Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:Unc80'

77974

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C030018G13Rik, C230061B10Rik

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66468367-66699148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66648944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 2367 (C2367Y)

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: C2367Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: C2367Y

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: C2299Y

Meta Mutation Damage Score

0.2308

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,095,926 (GRCm38)		probably benign	Het
4930579C12Rik	A	G	9: 89,168,207 (GRCm38)		noncoding transcript	Het
Adam34	T	A	8: 43,651,500 (GRCm38)	K369N	probably benign	Het
Ap1g1	T	C	8: 109,851,065 (GRCm38)	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,731,292 (GRCm38)	P26S	probably benign	Het
Cacna1c	A	T	6: 118,630,270 (GRCm38)	C1224*	probably null	Het
Cpsf2	C	T	12: 101,997,242 (GRCm38)		probably benign	Het
Cyp11b2	G	A	15: 74,853,641 (GRCm38)	R210W	probably damaging	Het
Dock7	C	T	4: 98,989,258 (GRCm38)	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979 (GRCm38)	A2908S	probably benign	Het
Elane	A	G	10: 79,887,108 (GRCm38)	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,507,816 (GRCm38)	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,722,420 (GRCm38)	P617L	probably damaging	Het
Hist2h2ab	G	A	3: 96,220,123 (GRCm38)	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,746,861 (GRCm38)	I106L	probably benign	Het
Man2b1	A	G	8: 85,096,829 (GRCm38)	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,215,390 (GRCm38)	E100G	probably damaging	Het
Mto1	A	T	9: 78,473,790 (GRCm38)	I639F	probably damaging	Het
Myo15	A	G	11: 60,487,251 (GRCm38)	E177G	probably damaging	Het
Naip5	T	A	13: 100,230,743 (GRCm38)	M282L	probably benign	Het
Olfr433	A	G	1: 174,042,487 (GRCm38)	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,957,699 (GRCm38)		probably benign	Het
Prl7d1	T	A	13: 27,714,338 (GRCm38)	M64L	probably benign	Het
Prnp	A	T	2: 131,936,524 (GRCm38)	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,149,111 (GRCm38)	V406I	probably benign	Het
Rab40c	G	A	17: 25,884,693 (GRCm38)	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,234,271 (GRCm38)		probably null	Het
Rnf145	T	C	11: 44,524,988 (GRCm38)	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,880,692 (GRCm38)	N70S	probably damaging	Het
Scaper	A	T	9: 55,859,042 (GRCm38)	C483*	probably null	Het
Sema4a	T	A	3: 88,453,098 (GRCm38)	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,100,948 (GRCm38)		probably null	Het
Sycp1	G	T	3: 102,915,245 (GRCm38)	N364K	probably benign	Het
Tenm4	T	C	7: 96,896,275 (GRCm38)		probably benign	Het
Tnfaip2	A	G	12: 111,450,707 (GRCm38)	T537A	probably damaging	Het
Trappc12	A	G	12: 28,703,597 (GRCm38)	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,411,773 (GRCm38)	T420I	probably damaging	Het
Ulk1	A	T	5: 110,789,545 (GRCm38)		probably benign	Het
Usp7	C	A	16: 8,703,502 (GRCm38)	G135C	probably damaging	Het
Vmn2r103	A	G	17: 19,793,927 (GRCm38)	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,488,027 (GRCm38)	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,259,162 (GRCm38)	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,245,408 (GRCm38)	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850 (GRCm38)	Y638*	probably null	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
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'- AGCCCTAAAATTCTTCAGCAGAATGTCA -3'
(R):5'- TGCCACCAAAGACCTTGTCTTTCC -3'

Sequencing Primer
(F):5'- TCTTCAGCAGAATGTCAGACAG -3'
(R):5'- TCATGACGGAGGATTCCTTATTC -3'

Posted On

2013-10-16