Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Unc80'

165881

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C030018G13Rik, C230061B10Rik

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66468367-66699148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66521581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 823 (H823Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148517 (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: H823Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: H823Y

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

possibly damaging
Transcript: ENSMUST00000212557
AA Change: H823Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236 (GRCm38)	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041 (GRCm38)	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753 (GRCm38)	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743 (GRCm38)	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,776,108 (GRCm38)	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279 (GRCm38)	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935 (GRCm38)	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697 (GRCm38)	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609 (GRCm38)	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264 (GRCm38)	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904 (GRCm38)		probably benign	Het
Clcn6	A	C	4: 148,024,156 (GRCm38)	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908 (GRCm38)		probably benign	Het
Crip2	T	A	12: 113,143,500 (GRCm38)	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763 (GRCm38)	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368 (GRCm38)	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068 (GRCm38)	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014 (GRCm38)	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244 (GRCm38)	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520 (GRCm38)	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121 (GRCm38)	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058 (GRCm38)	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443 (GRCm38)	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207 (GRCm38)	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963 (GRCm38)	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819 (GRCm38)	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091 (GRCm38)		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846 (GRCm38)	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549 (GRCm38)	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735 (GRCm38)	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614 (GRCm38)	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249 (GRCm38)	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968 (GRCm38)	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072 (GRCm38)	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552 (GRCm38)	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876 (GRCm38)	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654 (GRCm38)	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767 (GRCm38)	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011 (GRCm38)	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047 (GRCm38)	N410I	probably benign	Het
Jup	T	C	11: 100,379,601 (GRCm38)	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496 (GRCm38)	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046 (GRCm38)		probably null	Het
Lrig1	T	A	6: 94,607,313 (GRCm38)	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955 (GRCm38)	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519 (GRCm38)	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533 (GRCm38)	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961 (GRCm38)	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688 (GRCm38)	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864 (GRCm38)	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187 (GRCm38)	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906 (GRCm38)	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912 (GRCm38)	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643 (GRCm38)	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749 (GRCm38)	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175 (GRCm38)		probably null	Het
Otud7a	C	A	7: 63,754,629 (GRCm38)		probably benign	Het
Phf3	G	A	1: 30,805,940 (GRCm38)	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983 (GRCm38)	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664 (GRCm38)	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246 (GRCm38)	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915 (GRCm38)	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322 (GRCm38)	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665 (GRCm38)	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584 (GRCm38)	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252 (GRCm38)	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502 (GRCm38)	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257 (GRCm38)	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111 (GRCm38)	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837 (GRCm38)		probably benign	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448 (GRCm38)	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179 (GRCm38)	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739 (GRCm38)	M82T	probably benign	Het
Tat	T	C	8: 109,996,918 (GRCm38)	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625 (GRCm38)	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622 (GRCm38)	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962 (GRCm38)		probably null	Het
Tmem268	A	G	4: 63,580,338 (GRCm38)	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278 (GRCm38)	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032 (GRCm38)	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574 (GRCm38)		probably benign	Het
Ubqln4	A	G	3: 88,565,845 (GRCm38)	I536V	probably benign	Het
Vmn2r102	A	T	17: 19,694,581 (GRCm38)	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158 (GRCm38)	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410 (GRCm38)	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979 (GRCm38)	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220 (GRCm38)	E250G	possibly 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
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'- GGTGGCAAGGTTAACAGGCGT -3'
(R):5'- CCCTCTCCCAAGTGGTCTGCAA -3'

Sequencing Primer
(F):5'- GTGTCTTTCTTTCTCCATCTTGG -3'
(R):5'- CAGAGCAGTTTCCTAAGCTTCAG -3'

Posted On

2014-03-28