Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Unc80'

57452

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C030018G13Rik, C230061B10Rik

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66468367-66699148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66608442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1514 (S1514G)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061620
AA Change: S1514G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: S1514G

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: S1446G

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,788,721 (GRCm38)		probably benign	Het
6430571L13Rik	T	A	9: 107,342,508 (GRCm38)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,550,773 (GRCm38)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,837,111 (GRCm38)	A85S	probably benign	Het
Acsl5	A	T	19: 55,284,472 (GRCm38)	M340L	probably benign	Het
Adam29	T	A	8: 55,871,577 (GRCm38)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,436,884 (GRCm38)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,179,370 (GRCm38)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,739,220 (GRCm38)	E510G	probably benign	Het
Angel1	A	G	12: 86,717,713 (GRCm38)		probably null	Het
Aox3	T	G	1: 58,172,299 (GRCm38)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,318,454 (GRCm38)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,016,193 (GRCm38)	D4387E	probably benign	Het
Apobr	T	C	7: 126,586,655 (GRCm38)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 67,896,113 (GRCm38)		probably null	Het
Aspm	G	T	1: 139,491,601 (GRCm38)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,522,880 (GRCm38)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,446,990 (GRCm38)		probably null	Het
Bach1	A	G	16: 87,729,471 (GRCm38)	D607G	possibly damaging	Het
Batf3	A	G	1: 191,100,738 (GRCm38)	D27G	probably damaging	Het
Baz1a	G	T	12: 54,975,270 (GRCm38)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,723,538 (GRCm38)	V86M	probably benign	Het
Birc7	A	G	2: 180,931,305 (GRCm38)	I172V	probably benign	Het
Bod1l	A	C	5: 41,831,537 (GRCm38)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,488,817 (GRCm38)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,393,546 (GRCm38)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,224,043 (GRCm38)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,584,493 (GRCm38)		probably benign	Het
Clec2d	T	A	6: 129,183,127 (GRCm38)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,662,578 (GRCm38)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,042,427 (GRCm38)	D245V	probably benign	Het
Col5a1	T	A	2: 27,928,243 (GRCm38)	L160*	probably null	Het
Col6a6	T	C	9: 105,777,744 (GRCm38)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,985,231 (GRCm38)	H142Q	probably benign	Het
Cr2	A	C	1: 195,171,111 (GRCm38)	S20A	possibly damaging	Het
Cyp2j5	A	T	4: 96,659,512 (GRCm38)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 104,167,950 (GRCm38)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 131,102,081 (GRCm38)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,416,554 (GRCm38)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,477,683 (GRCm38)	S1709T	probably benign	Het
Dopey2	T	C	16: 93,763,956 (GRCm38)	V776A	probably damaging	Het
Emc3	T	C	6: 113,516,031 (GRCm38)	T220A	probably benign	Het
Entpd1	A	C	19: 40,727,325 (GRCm38)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,671,223 (GRCm38)	I229F	probably damaging	Het
Fancc	G	A	13: 63,317,391 (GRCm38)	P501S	probably damaging	Het
Fasn	T	C	11: 120,811,925 (GRCm38)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,988,958 (GRCm38)	I5012V	probably benign	Het
Glce	T	C	9: 62,061,000 (GRCm38)	T290A	probably benign	Het
Gm648	G	A	X: 56,545,039 (GRCm38)	P134L	probably benign	Het
Gns	G	A	10: 121,383,444 (GRCm38)		probably null	Het
Gsdma2	A	G	11: 98,651,984 (GRCm38)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,277,824 (GRCm38)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,798,719 (GRCm38)		probably null	Het
Jup	A	T	11: 100,376,763 (GRCm38)	M578K	probably benign	Het
Kir3dl1	G	A	X: 136,533,845 (GRCm38)		probably null	Het
Krt75	A	G	15: 101,573,590 (GRCm38)	F81S	probably benign	Het
Lrp1	G	T	10: 127,567,364 (GRCm38)	D2113E	probably damaging	Het
Maged2	T	A	X: 150,811,834 (GRCm38)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,328,571 (GRCm38)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm38)	V74G	possibly damaging	Het
Naca	A	G	10: 128,041,162 (GRCm38)		probably benign	Het
Nav3	T	G	10: 109,823,464 (GRCm38)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,523,174 (GRCm38)	T293S	probably benign	Het
Numb	A	G	12: 83,795,840 (GRCm38)	Y510H	probably damaging	Het
Nynrin	T	G	14: 55,868,035 (GRCm38)	L834R	probably damaging	Het
Olfr1537	T	A	9: 39,237,866 (GRCm38)	N186I	possibly damaging	Het
Olfr318	G	T	11: 58,720,521 (GRCm38)	H176N	probably benign	Het
Olfr743	T	C	14: 50,533,702 (GRCm38)	S97P	possibly damaging	Het
Otog	T	C	7: 46,271,373 (GRCm38)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 25,297,129 (GRCm38)	V43A	possibly damaging	Het
Pcnx	A	G	12: 81,983,676 (GRCm38)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 102,520,831 (GRCm38)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,293,901 (GRCm38)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,019,258 (GRCm38)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,575,575 (GRCm38)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,717,301 (GRCm38)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,040,585 (GRCm38)	R16*	probably null	Het
Polm	C	A	11: 5,836,207 (GRCm38)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,860,405 (GRCm38)	M1T	probably null	Het
Ptprh	G	A	7: 4,564,272 (GRCm38)	L534F	probably benign	Het
Rabl6	C	T	2: 25,592,766 (GRCm38)		probably null	Het
Rap2a	A	G	14: 120,478,991 (GRCm38)	S89G	probably damaging	Het
Rara	A	T	11: 98,971,580 (GRCm38)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm38)	D623G	probably benign	Het
Relt	A	T	7: 100,848,816 (GRCm38)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm38)		probably null	Het
Rtn4rl2	T	G	2: 84,880,419 (GRCm38)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,688,437 (GRCm38)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,553,442 (GRCm38)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,267,415 (GRCm38)	M107K	probably benign	Het
Smg1	T	C	7: 118,182,383 (GRCm38)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,221,814 (GRCm38)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,642,783 (GRCm38)	S465P	probably benign	Het
Sp4	A	G	12: 118,299,579 (GRCm38)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,817,492 (GRCm38)		probably null	Het
Tbc1d17	T	C	7: 44,843,085 (GRCm38)	T385A	probably benign	Het
Tbx10	C	A	19: 3,997,873 (GRCm38)	D206E	probably benign	Het
Tcea2	C	T	2: 181,687,638 (GRCm38)	P275S	probably damaging	Het
Tns3	C	A	11: 8,493,121 (GRCm38)	R414L	probably benign	Het
Trip11	T	C	12: 101,885,976 (GRCm38)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 86,925,861 (GRCm38)	K213R	probably null	Het
Usp7	G	T	16: 8,693,914 (GRCm38)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,574,652 (GRCm38)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,229,745 (GRCm38)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,961,309 (GRCm38)	Y58*	probably null	Het
Wdr36	C	A	18: 32,850,531 (GRCm38)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,221,433 (GRCm38)	W465R	probably damaging	Het
Zscan4d	T	A	7: 11,165,019 (GRCm38)	R110S	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
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
R1834:Unc80	UTSW	1	66,639,248 (GRCm38)	missense	possibly damaging	0.53
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'- AACAAAGTCCTGTGCCCTGTAACC -3'
(R):5'- CAGAGGACAGAGTGAATCCTTGCC -3'

Sequencing Primer
(F):5'- CCAGGGAAACTGAGCATTGA -3'
(R):5'- gctttgcctactatcaactccc -3'

Posted On

2013-07-11