Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Unc80'

205007

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C030018G13Rik, C230061B10Rik

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66468367-66699148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66639248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 2063 (T2063S)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061620] [ENSMUST00000212557]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061620
AA Change: T2063S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: T2063S

Domain	Start	End	E-Value	Type
Pfam:UNC80	16	236	2.2e-94	PFAM
low complexity region	372	385	N/A	INTRINSIC
low complexity region	493	502	N/A	INTRINSIC
low complexity region	693	711	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	739	769	N/A	INTRINSIC
low complexity region	1038	1055	N/A	INTRINSIC
low complexity region	1067	1084	N/A	INTRINSIC
low complexity region	1309	1328	N/A	INTRINSIC
low complexity region	1477	1489	N/A	INTRINSIC
low complexity region	1676	1681	N/A	INTRINSIC
low complexity region	1842	1848	N/A	INTRINSIC
low complexity region	1854	1868	N/A	INTRINSIC
low complexity region	2461	2480	N/A	INTRINSIC
low complexity region	2726	2740	N/A	INTRINSIC
low complexity region	3121	3144	N/A	INTRINSIC
low complexity region	3245	3254	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000212557
AA Change: T1995S

Meta Mutation Damage Score

0.0987

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487 (GRCm38)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898 (GRCm38)	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665 (GRCm38)	R319G	probably benign	Het
Abca3	A	T	17: 24,376,692 (GRCm38)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,423,117 (GRCm38)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,235,475 (GRCm38)	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094 (GRCm38)		probably benign	Het
Acss2	T	A	2: 155,558,630 (GRCm38)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231 (GRCm38)		probably benign	Het
Afm	T	A	5: 90,526,424 (GRCm38)	M265K	probably benign	Het
Agl	A	G	3: 116,788,351 (GRCm38)	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991 (GRCm38)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703 (GRCm38)	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437 (GRCm38)	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831 (GRCm38)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718 (GRCm38)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219 (GRCm38)	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491 (GRCm38)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214 (GRCm38)	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015 (GRCm38)	A328P	probably damaging	Het
Col4a2	A	G	8: 11,402,997 (GRCm38)	E188G	probably benign	Het
Creb1	C	T	1: 64,550,950 (GRCm38)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966 (GRCm38)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101 (GRCm38)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,892,453 (GRCm38)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,959,497 (GRCm38)	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701 (GRCm38)		probably benign	Het
Dmrt1	A	T	19: 25,509,699 (GRCm38)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124 (GRCm38)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759 (GRCm38)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632 (GRCm38)	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001 (GRCm38)	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128 (GRCm38)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463 (GRCm38)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm38)	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118 (GRCm38)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778 (GRCm38)		probably benign	Het
Fem1c	C	T	18: 46,505,282 (GRCm38)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869 (GRCm38)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680 (GRCm38)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431 (GRCm38)	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879 (GRCm38)		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776 (GRCm38)	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679 (GRCm38)	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092 (GRCm38)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079 (GRCm38)	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236 (GRCm38)		probably benign	Het
Ice1	G	A	13: 70,615,338 (GRCm38)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606 (GRCm38)	R618S	unknown	Het
Itga2	C	A	13: 114,856,726 (GRCm38)	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727 (GRCm38)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485 (GRCm38)	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880 (GRCm38)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518 (GRCm38)	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411 (GRCm38)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273 (GRCm38)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811 (GRCm38)	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022 (GRCm38)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129 (GRCm38)	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895 (GRCm38)	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941 (GRCm38)		probably benign	Het
Nsd1	A	G	13: 55,313,351 (GRCm38)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187 (GRCm38)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076 (GRCm38)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116 (GRCm38)	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482 (GRCm38)	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653 (GRCm38)	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141 (GRCm38)	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832 (GRCm38)	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173 (GRCm38)	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346 (GRCm38)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945 (GRCm38)		probably null	Het
Pi16	A	G	17: 29,327,445 (GRCm38)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123 (GRCm38)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522 (GRCm38)	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213 (GRCm38)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm38)	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338 (GRCm38)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659 (GRCm38)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213 (GRCm38)	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059 (GRCm38)	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299 (GRCm38)	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734 (GRCm38)	Y641H	possibly damaging	Het
Scn1a	T	A	2: 66,324,617 (GRCm38)	Q666L	probably benign	Het
Scn1a	C	A	2: 66,324,616 (GRCm38)	Q666H	probably benign	Het
Sdhaf4	T	C	1: 24,003,153 (GRCm38)		probably null	Het
Sec14l3	A	G	11: 4,066,510 (GRCm38)		probably benign	Het
Selp	C	A	1: 164,128,160 (GRCm38)		probably null	Het
Sim1	A	G	10: 50,909,828 (GRCm38)	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001 (GRCm38)		probably benign	Het
Sptbn4	T	A	7: 27,366,646 (GRCm38)	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327 (GRCm38)	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189 (GRCm38)	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604 (GRCm38)	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365 (GRCm38)	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665 (GRCm38)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635 (GRCm38)	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004 (GRCm38)	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,761,481 (GRCm38)	V610A	probably benign	Het
Tmem163	A	G	1: 127,677,509 (GRCm38)	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113 (GRCm38)	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225 (GRCm38)	V356A	possibly damaging	Het
Ttn	C	T	2: 76,763,260 (GRCm38)	V20679I	probably benign	Het
Ttn	T	C	2: 76,732,158 (GRCm38)	D28781G	probably damaging	Het
Vav3	A	G	3: 109,506,426 (GRCm38)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456 (GRCm38)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410 (GRCm38)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030 (GRCm38)		probably benign	Het
Vwa3a	A	G	7: 120,790,136 (GRCm38)	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140 (GRCm38)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530 (GRCm38)	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935 (GRCm38)	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970 (GRCm38)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887 (GRCm38)	I593F	probably damaging	Het

Other mutations in Unc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Unc80	APN	1	66,654,395 (GRCm38)	missense	possibly damaging	0.53
IGL00340:Unc80	APN	1	66,606,459 (GRCm38)	missense	possibly damaging	0.73
IGL00783:Unc80	APN	1	66,608,437 (GRCm38)	missense	probably benign	0.37
IGL00784:Unc80	APN	1	66,608,437 (GRCm38)	missense	probably benign	0.37
IGL00935:Unc80	APN	1	66,627,266 (GRCm38)	missense	possibly damaging	0.53
IGL01094:Unc80	APN	1	66,695,433 (GRCm38)	missense	possibly damaging	0.90
IGL01466:Unc80	APN	1	66,622,486 (GRCm38)	missense	probably benign	0.33
IGL01577:Unc80	APN	1	66,529,968 (GRCm38)	splice site	probably null
IGL01626:Unc80	APN	1	66,551,054 (GRCm38)	critical splice donor site	probably null
IGL01640:Unc80	APN	1	66,679,585 (GRCm38)	missense	probably benign	0.33
IGL01775:Unc80	APN	1	66,601,056 (GRCm38)	missense	possibly damaging	0.94
IGL01960:Unc80	APN	1	66,608,500 (GRCm38)	splice site	probably benign
IGL01991:Unc80	APN	1	66,469,509 (GRCm38)	nonsense	probably null
IGL02022:Unc80	APN	1	66,626,516 (GRCm38)	missense	possibly damaging	0.53
IGL02073:Unc80	APN	1	66,612,227 (GRCm38)	missense	possibly damaging	0.85
IGL02077:Unc80	APN	1	66,525,716 (GRCm38)	missense	possibly damaging	0.77
IGL02197:Unc80	APN	1	66,530,065 (GRCm38)	missense	probably benign	0.39
IGL02198:Unc80	APN	1	66,529,986 (GRCm38)	missense	possibly damaging	0.88
IGL02228:Unc80	APN	1	66,608,428 (GRCm38)	missense	possibly damaging	0.72
IGL02327:Unc80	APN	1	66,641,673 (GRCm38)	missense	probably benign	0.33
IGL02447:Unc80	APN	1	66,503,544 (GRCm38)	missense	possibly damaging	0.86
IGL02489:Unc80	APN	1	66,525,701 (GRCm38)	missense	probably benign	0.07
IGL02546:Unc80	APN	1	66,554,953 (GRCm38)	missense	possibly damaging	0.83
IGL02629:Unc80	APN	1	66,483,317 (GRCm38)	missense	possibly damaging	0.46
IGL02631:Unc80	APN	1	66,530,063 (GRCm38)	missense	probably damaging	0.98
IGL02839:Unc80	APN	1	66,671,675 (GRCm38)	missense	possibly damaging	0.53
IGL02960:Unc80	APN	1	66,678,058 (GRCm38)	splice site	probably benign
IGL02974:Unc80	APN	1	66,525,658 (GRCm38)	missense	possibly damaging	0.95
IGL03060:Unc80	APN	1	66,637,010 (GRCm38)	missense	possibly damaging	0.96
IGL03062:Unc80	APN	1	66,509,489 (GRCm38)	missense	probably damaging	0.96
IGL03074:Unc80	APN	1	66,671,718 (GRCm38)	splice site	probably benign
IGL03086:Unc80	APN	1	66,509,474 (GRCm38)	missense	probably damaging	0.99
IGL03105:Unc80	APN	1	66,472,099 (GRCm38)	missense	probably damaging	0.96
IGL03107:Unc80	APN	1	66,631,454 (GRCm38)	missense	probably damaging	0.98
IGL03158:Unc80	APN	1	66,641,674 (GRCm38)	missense	probably benign	0.33
IGL03220:Unc80	APN	1	66,504,938 (GRCm38)	missense	probably damaging	0.99
IGL03271:Unc80	APN	1	66,695,603 (GRCm38)	unclassified	probably benign
IGL03332:Unc80	APN	1	66,503,631 (GRCm38)	missense	probably damaging	1.00
IGL03347:Unc80	APN	1	66,695,466 (GRCm38)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,507,391 (GRCm38)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,507,391 (GRCm38)	missense	probably damaging	1.00
R0026:Unc80	UTSW	1	66,521,584 (GRCm38)	missense	probably benign	0.27
R0055:Unc80	UTSW	1	66,506,623 (GRCm38)	splice site	probably benign
R0149:Unc80	UTSW	1	66,521,601 (GRCm38)	missense	possibly damaging	0.82
R0325:Unc80	UTSW	1	66,510,881 (GRCm38)	missense	probably damaging	1.00
R0329:Unc80	UTSW	1	66,674,087 (GRCm38)	missense	possibly damaging	0.96
R0330:Unc80	UTSW	1	66,674,087 (GRCm38)	missense	possibly damaging	0.96
R0355:Unc80	UTSW	1	66,549,856 (GRCm38)	missense	possibly damaging	0.77
R0412:Unc80	UTSW	1	66,550,937 (GRCm38)	splice site	probably benign
R0422:Unc80	UTSW	1	66,483,338 (GRCm38)	missense	probably damaging	1.00
R0477:Unc80	UTSW	1	66,570,001 (GRCm38)	missense	probably damaging	0.99
R0507:Unc80	UTSW	1	66,527,893 (GRCm38)	missense	possibly damaging	0.66
R0513:Unc80	UTSW	1	66,622,474 (GRCm38)	missense	possibly damaging	0.73
R0553:Unc80	UTSW	1	66,506,669 (GRCm38)	missense	probably damaging	0.97
R0626:Unc80	UTSW	1	66,608,442 (GRCm38)	missense	probably benign	0.01
R0655:Unc80	UTSW	1	66,503,781 (GRCm38)	missense	probably damaging	0.98
R0742:Unc80	UTSW	1	66,527,893 (GRCm38)	missense	possibly damaging	0.66
R0755:Unc80	UTSW	1	66,504,923 (GRCm38)	missense	probably damaging	1.00
R0782:Unc80	UTSW	1	66,622,581 (GRCm38)	missense	possibly damaging	0.53
R0837:Unc80	UTSW	1	66,648,944 (GRCm38)	missense	possibly damaging	0.73
R0841:Unc80	UTSW	1	66,472,088 (GRCm38)	missense	probably damaging	1.00
R0893:Unc80	UTSW	1	66,521,486 (GRCm38)	missense	probably damaging	0.97
R0900:Unc80	UTSW	1	66,671,598 (GRCm38)	missense	probably benign	0.33
R0924:Unc80	UTSW	1	66,510,641 (GRCm38)	missense	possibly damaging	0.95
R0930:Unc80	UTSW	1	66,510,641 (GRCm38)	missense	possibly damaging	0.95
R0989:Unc80	UTSW	1	66,646,440 (GRCm38)	missense	possibly damaging	0.53
R1145:Unc80	UTSW	1	66,472,088 (GRCm38)	missense	probably damaging	1.00
R1145:Unc80	UTSW	1	66,472,088 (GRCm38)	missense	probably damaging	1.00
R1224:Unc80	UTSW	1	66,471,980 (GRCm38)	missense	probably damaging	1.00
R1240:Unc80	UTSW	1	66,635,902 (GRCm38)	missense	possibly damaging	0.85
R1245:Unc80	UTSW	1	66,555,095 (GRCm38)	missense	possibly damaging	0.94
R1467:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R1473:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R1500:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R1556:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R1562:Unc80	UTSW	1	66,637,957 (GRCm38)	missense	probably damaging	1.00
R1655:Unc80	UTSW	1	66,672,756 (GRCm38)	missense	possibly damaging	0.86
R1674:Unc80	UTSW	1	66,509,308 (GRCm38)	missense	probably damaging	1.00
R1680:Unc80	UTSW	1	66,503,669 (GRCm38)	nonsense	probably null
R1739:Unc80	UTSW	1	66,527,892 (GRCm38)	missense	probably damaging	0.97
R1756:Unc80	UTSW	1	66,639,248 (GRCm38)	missense	possibly damaging	0.53
R1783:Unc80	UTSW	1	66,683,273 (GRCm38)	missense	probably benign	0.01
R1854:Unc80	UTSW	1	66,631,414 (GRCm38)	missense	possibly damaging	0.93
R1871:Unc80	UTSW	1	66,510,717 (GRCm38)	missense	possibly damaging	0.77
R1878:Unc80	UTSW	1	66,509,402 (GRCm38)	missense	probably damaging	0.96
R1883:Unc80	UTSW	1	66,525,770 (GRCm38)	missense	possibly damaging	0.89
R1912:Unc80	UTSW	1	66,510,625 (GRCm38)	missense	probably damaging	1.00
R1990:Unc80	UTSW	1	66,692,549 (GRCm38)	missense	probably damaging	0.97
R2007:Unc80	UTSW	1	66,503,776 (GRCm38)	missense	probably damaging	1.00
R2035:Unc80	UTSW	1	66,606,593 (GRCm38)	missense	probably damaging	0.98
R2056:Unc80	UTSW	1	66,640,552 (GRCm38)	missense	possibly damaging	0.72
R2060:Unc80	UTSW	1	66,640,595 (GRCm38)	missense	possibly damaging	0.53
R2074:Unc80	UTSW	1	66,679,744 (GRCm38)	critical splice donor site	probably null
R2088:Unc80	UTSW	1	66,590,227 (GRCm38)	missense	possibly damaging	0.77
R2089:Unc80	UTSW	1	66,671,715 (GRCm38)	splice site	probably benign
R2091:Unc80	UTSW	1	66,671,715 (GRCm38)	splice site	probably benign
R2139:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R2169:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R2175:Unc80	UTSW	1	66,677,355 (GRCm38)	missense	probably damaging	1.00
R2248:Unc80	UTSW	1	66,623,206 (GRCm38)	splice site	probably benign
R2255:Unc80	UTSW	1	66,618,258 (GRCm38)	missense	possibly damaging	0.53
R2308:Unc80	UTSW	1	66,648,997 (GRCm38)	missense	possibly damaging	0.53
R2484:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
R2507:Unc80	UTSW	1	66,612,107 (GRCm38)	missense	possibly damaging	0.53
R2512:Unc80	UTSW	1	66,671,608 (GRCm38)	missense	possibly damaging	0.70
R2878:Unc80	UTSW	1	66,671,576 (GRCm38)	critical splice acceptor site	probably benign
R3040:Unc80	UTSW	1	66,639,305 (GRCm38)	missense	probably benign	0.33
R3104:Unc80	UTSW	1	66,623,291 (GRCm38)	missense	probably benign	0.33
R3402:Unc80	UTSW	1	66,510,686 (GRCm38)	missense	probably damaging	0.97
R3403:Unc80	UTSW	1	66,510,686 (GRCm38)	missense	probably damaging	0.97
R3413:Unc80	UTSW	1	66,639,305 (GRCm38)	missense	probably benign	0.33
R3426:Unc80	UTSW	1	66,639,305 (GRCm38)	missense	probably benign	0.33
R3427:Unc80	UTSW	1	66,639,305 (GRCm38)	missense	probably benign	0.33
R3428:Unc80	UTSW	1	66,639,305 (GRCm38)	missense	probably benign	0.33
R3904:Unc80	UTSW	1	66,639,296 (GRCm38)	nonsense	probably null
R3916:Unc80	UTSW	1	66,677,495 (GRCm38)	missense	probably benign	0.11
R3950:Unc80	UTSW	1	66,622,570 (GRCm38)	missense	possibly damaging	0.53
R4642:Unc80	UTSW	1	66,671,714 (GRCm38)	splice site	probably null
R4646:Unc80	UTSW	1	66,669,235 (GRCm38)	missense	probably benign	0.03
R4655:Unc80	UTSW	1	66,671,662 (GRCm38)	missense	probably benign	0.18
R4662:Unc80	UTSW	1	66,646,436 (GRCm38)	missense	probably benign	0.01
R4720:Unc80	UTSW	1	66,510,792 (GRCm38)	missense	possibly damaging	0.92
R4736:Unc80	UTSW	1	66,649,672 (GRCm38)	critical splice acceptor site	probably null
R4795:Unc80	UTSW	1	66,527,941 (GRCm38)	missense	probably damaging	0.97
R4888:Unc80	UTSW	1	66,644,447 (GRCm38)	missense	probably damaging	0.98
R4917:Unc80	UTSW	1	66,646,550 (GRCm38)	missense	possibly damaging	0.86
R4918:Unc80	UTSW	1	66,646,550 (GRCm38)	missense	possibly damaging	0.86
R4983:Unc80	UTSW	1	66,674,732 (GRCm38)	splice site	probably null
R5051:Unc80	UTSW	1	66,509,477 (GRCm38)	missense	probably damaging	0.96
R5111:Unc80	UTSW	1	66,527,995 (GRCm38)	missense	possibly damaging	0.66
R5122:Unc80	UTSW	1	66,679,590 (GRCm38)	missense	possibly damaging	0.53
R5260:Unc80	UTSW	1	66,646,587 (GRCm38)	missense	possibly damaging	0.53
R5351:Unc80	UTSW	1	66,606,513 (GRCm38)	missense	possibly damaging	0.73
R5387:Unc80	UTSW	1	66,530,021 (GRCm38)	missense	possibly damaging	0.77
R5437:Unc80	UTSW	1	66,654,578 (GRCm38)	missense	possibly damaging	0.96
R5525:Unc80	UTSW	1	66,606,614 (GRCm38)	missense	possibly damaging	0.72
R5621:Unc80	UTSW	1	66,638,043 (GRCm38)	missense	possibly damaging	0.53
R5690:Unc80	UTSW	1	66,640,572 (GRCm38)	missense	probably benign	0.08
R5762:Unc80	UTSW	1	66,693,796 (GRCm38)	missense	possibly damaging	0.82
R5956:Unc80	UTSW	1	66,527,964 (GRCm38)	missense	probably damaging	0.97
R6005:Unc80	UTSW	1	66,627,257 (GRCm38)	missense	possibly damaging	0.53
R6025:Unc80	UTSW	1	66,695,568 (GRCm38)	missense	possibly damaging	0.90
R6033:Unc80	UTSW	1	66,473,260 (GRCm38)	missense	possibly damaging	0.92
R6033:Unc80	UTSW	1	66,473,260 (GRCm38)	missense	possibly damaging	0.92
R6117:Unc80	UTSW	1	66,675,067 (GRCm38)	missense	possibly damaging	0.72
R6156:Unc80	UTSW	1	66,612,250 (GRCm38)	missense	probably benign	0.01
R6157:Unc80	UTSW	1	66,654,029 (GRCm38)	nonsense	probably null
R6189:Unc80	UTSW	1	66,677,471 (GRCm38)	missense	probably benign	0.33
R6291:Unc80	UTSW	1	66,521,597 (GRCm38)	missense	possibly damaging	0.82
R6367:Unc80	UTSW	1	66,672,766 (GRCm38)	missense	probably benign	0.33
R6598:Unc80	UTSW	1	66,468,540 (GRCm38)	critical splice donor site	probably null
R6724:Unc80	UTSW	1	66,683,191 (GRCm38)	missense	possibly damaging	0.90
R6763:Unc80	UTSW	1	66,521,477 (GRCm38)	missense	probably benign	0.00
R6773:Unc80	UTSW	1	66,651,543 (GRCm38)	missense	probably benign	0.33
R6883:Unc80	UTSW	1	66,646,404 (GRCm38)	missense	probably benign	0.33
R6951:Unc80	UTSW	1	66,648,511 (GRCm38)	missense	possibly damaging	0.53
R6965:Unc80	UTSW	1	66,646,566 (GRCm38)	missense	probably benign	0.33
R6993:Unc80	UTSW	1	66,549,793 (GRCm38)	missense	possibly damaging	0.60
R7041:Unc80	UTSW	1	66,503,593 (GRCm38)	missense	probably benign	0.00
R7050:Unc80	UTSW	1	66,550,908 (GRCm38)	splice site	probably null
R7067:Unc80	UTSW	1	66,646,572 (GRCm38)	missense	possibly damaging	0.86
R7080:Unc80	UTSW	1	66,646,521 (GRCm38)	missense	possibly damaging	0.53
R7193:Unc80	UTSW	1	66,549,784 (GRCm38)	missense	possibly damaging	0.60
R7197:Unc80	UTSW	1	66,521,566 (GRCm38)	nonsense	probably null
R7278:Unc80	UTSW	1	66,552,209 (GRCm38)	missense	possibly damaging	0.82
R7290:Unc80	UTSW	1	66,601,197 (GRCm38)	missense	probably damaging	0.97
R7391:Unc80	UTSW	1	66,695,528 (GRCm38)	missense	probably benign	0.18
R7401:Unc80	UTSW	1	66,646,415 (GRCm38)	missense	possibly damaging	0.96
R7470:Unc80	UTSW	1	66,622,462 (GRCm38)	missense	probably benign	0.02
R7573:Unc80	UTSW	1	66,521,537 (GRCm38)	missense	probably damaging	1.00
R7637:Unc80	UTSW	1	66,672,684 (GRCm38)	missense	possibly damaging	0.86
R7678:Unc80	UTSW	1	66,649,722 (GRCm38)	missense	probably benign	0.33
R7697:Unc80	UTSW	1	66,637,945 (GRCm38)	missense	possibly damaging	0.93
R7746:Unc80	UTSW	1	66,677,385 (GRCm38)	missense	probably benign	0.33
R7768:Unc80	UTSW	1	66,510,595 (GRCm38)	missense	possibly damaging	0.56
R7796:Unc80	UTSW	1	66,503,714 (GRCm38)	missense	probably benign
R7855:Unc80	UTSW	1	66,483,349 (GRCm38)	missense	possibly damaging	0.78
R7878:Unc80	UTSW	1	66,601,141 (GRCm38)	missense	possibly damaging	0.88
R7879:Unc80	UTSW	1	66,510,707 (GRCm38)	missense	probably benign	0.00
R8024:Unc80	UTSW	1	66,606,644 (GRCm38)	missense	possibly damaging	0.86
R8026:Unc80	UTSW	1	66,483,304 (GRCm38)	missense	possibly damaging	0.92
R8115:Unc80	UTSW	1	66,648,913 (GRCm38)	missense	probably benign	0.00
R8135:Unc80	UTSW	1	66,509,287 (GRCm38)	missense	possibly damaging	0.49
R8170:Unc80	UTSW	1	66,651,533 (GRCm38)	missense	probably benign	0.33
R8239:Unc80	UTSW	1	66,654,019 (GRCm38)	missense	probably benign
R8249:Unc80	UTSW	1	66,619,491 (GRCm38)	missense	probably benign	0.01
R8275:Unc80	UTSW	1	66,640,614 (GRCm38)	nonsense	probably null
R8288:Unc80	UTSW	1	66,473,350 (GRCm38)	missense	probably benign	0.07
R8341:Unc80	UTSW	1	66,649,033 (GRCm38)	missense	possibly damaging	0.73
R8356:Unc80	UTSW	1	66,641,629 (GRCm38)	missense	possibly damaging	0.85
R8433:Unc80	UTSW	1	66,638,028 (GRCm38)	nonsense	probably null
R8456:Unc80	UTSW	1	66,641,629 (GRCm38)	missense	possibly damaging	0.85
R8464:Unc80	UTSW	1	66,473,264 (GRCm38)	missense	probably damaging	1.00
R8483:Unc80	UTSW	1	66,693,710 (GRCm38)	missense	possibly damaging	0.83
R8509:Unc80	UTSW	1	66,641,629 (GRCm38)	missense	possibly damaging	0.85
R8686:Unc80	UTSW	1	66,612,268 (GRCm38)	missense	possibly damaging	0.53
R8701:Unc80	UTSW	1	66,638,032 (GRCm38)	missense	possibly damaging	0.85
R8729:Unc80	UTSW	1	66,608,490 (GRCm38)	missense	probably benign	0.01
R8755:Unc80	UTSW	1	66,612,131 (GRCm38)	missense	possibly damaging	0.53
R8771:Unc80	UTSW	1	66,646,395 (GRCm38)	missense	possibly damaging	0.85
R8866:Unc80	UTSW	1	66,590,229 (GRCm38)	missense	probably benign	0.05
R8877:Unc80	UTSW	1	66,527,985 (GRCm38)	missense	possibly damaging	0.89
R8942:Unc80	UTSW	1	66,473,309 (GRCm38)	missense	possibly damaging	0.94
R8976:Unc80	UTSW	1	66,472,010 (GRCm38)	missense	possibly damaging	0.87
R9063:Unc80	UTSW	1	66,606,657 (GRCm38)	critical splice donor site	probably null
R9095:Unc80	UTSW	1	66,506,753 (GRCm38)	missense	probably damaging	1.00
R9125:Unc80	UTSW	1	66,679,581 (GRCm38)	missense	probably benign	0.18
R9130:Unc80	UTSW	1	66,638,085 (GRCm38)	missense	possibly damaging	0.85
R9165:Unc80	UTSW	1	66,549,841 (GRCm38)	missense	probably null	0.95
R9220:Unc80	UTSW	1	66,507,375 (GRCm38)	missense	probably damaging	1.00
R9262:Unc80	UTSW	1	66,555,252 (GRCm38)	intron	probably benign
R9334:Unc80	UTSW	1	66,649,760 (GRCm38)	missense	possibly damaging	0.73
R9374:Unc80	UTSW	1	66,590,301 (GRCm38)	missense	possibly damaging	0.95
R9387:Unc80	UTSW	1	66,549,938 (GRCm38)	critical splice donor site	probably null
R9415:Unc80	UTSW	1	66,510,905 (GRCm38)	missense
R9427:Unc80	UTSW	1	66,554,999 (GRCm38)	missense	probably damaging	1.00
R9436:Unc80	UTSW	1	66,693,805 (GRCm38)	critical splice donor site	probably null
R9454:Unc80	UTSW	1	66,695,590 (GRCm38)	missense	possibly damaging	0.53
R9522:Unc80	UTSW	1	66,638,062 (GRCm38)	missense	possibly damaging	0.73
R9539:Unc80	UTSW	1	66,570,004 (GRCm38)	critical splice donor site	probably null
R9552:Unc80	UTSW	1	66,678,123 (GRCm38)	missense	possibly damaging	0.85
R9667:Unc80	UTSW	1	66,612,128 (GRCm38)	missense	possibly damaging	0.86
R9720:Unc80	UTSW	1	66,644,326 (GRCm38)	missense	possibly damaging	0.53
R9749:Unc80	UTSW	1	66,505,020 (GRCm38)	missense	probably damaging	0.99
R9789:Unc80	UTSW	1	66,612,212 (GRCm38)	missense	possibly damaging	0.53
X0019:Unc80	UTSW	1	66,648,382 (GRCm38)	missense	probably benign	0.33
X0021:Unc80	UTSW	1	66,509,266 (GRCm38)	critical splice acceptor site	probably null
X0024:Unc80	UTSW	1	66,491,046 (GRCm38)	missense	probably benign	0.21
X0062:Unc80	UTSW	1	66,623,259 (GRCm38)	missense	probably benign	0.02
X0066:Unc80	UTSW	1	66,530,757 (GRCm38)	missense	possibly damaging	0.77
Y4335:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
Y4336:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
Y4338:Unc80	UTSW	1	66,521,581 (GRCm38)	missense	possibly damaging	0.46
Z1088:Unc80	UTSW	1	66,646,451 (GRCm38)	missense	possibly damaging	0.85
Z1176:Unc80	UTSW	1	66,694,409 (GRCm38)	missense	probably benign
Z1177:Unc80	UTSW	1	66,695,339 (GRCm38)	missense	probably benign	0.03
Z1177:Unc80	UTSW	1	66,646,398 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGCACTCACATTCTTAAGAGTTTG -3'
(R):5'- TCCAAAACATGTTTACTGTGGG -3'

Sequencing Primer
(F):5'- CTCACATTCTTAAGAGTTTGGCAAC -3'
(R):5'- AAACATGTTTACTGTGGGAGCATTG -3'

Posted On

2014-06-23