Mutagenetix > Incidental Mutation

Incidental Mutation 'R6117:Unc80'

485143

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C230061B10Rik, C030018G13Rik

MMRRC Submission

044266-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R6117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66507526-66738307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66714226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2856 (E2856G)

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: E2856G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: E2856G

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

probably benign
Transcript: ENSMUST00000152844

SMART Domains

Protein: ENSMUSP00000117070
Gene: ENSMUSG00000055567

Domain	Start	End	E-Value	Type
low complexity region	76	99	N/A	INTRINSIC
low complexity region	200	209	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187179

Predicted Effect

unknown
Transcript: ENSMUST00000212557
AA Change: E2788G

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,348,534 (GRCm39)	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,788,996 (GRCm39)		probably benign	Het
Apmap	T	C	2: 150,442,252 (GRCm39)	T41A	probably benign	Het
Cacna1a	A	G	8: 85,341,350 (GRCm39)	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,437,537 (GRCm39)	I333N	possibly damaging	Het
Cdsn	C	A	17: 35,865,931 (GRCm39)	S153R	unknown	Het
Celsr1	A	T	15: 85,816,612 (GRCm39)	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,901,139 (GRCm39)	M249V	probably benign	Het
Cmya5	A	G	13: 93,231,674 (GRCm39)	L1138P	probably damaging	Het
Crim1	A	C	17: 78,610,517 (GRCm39)	D324A	probably damaging	Het
Dmap1	T	A	4: 117,532,732 (GRCm39)		probably null	Het
Dnah17	T	C	11: 118,010,397 (GRCm39)	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,566 (GRCm39)	L956H	probably damaging	Het
Enpp3	C	T	10: 24,663,750 (GRCm39)	S537N	probably damaging	Het
Eya3	T	A	4: 132,439,173 (GRCm39)	L323Q	probably damaging	Het
Fads3	A	T	19: 10,031,631 (GRCm39)	H226L	probably damaging	Het
Flrt3	T	A	2: 140,502,365 (GRCm39)	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,607,060 (GRCm39)	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,580,471 (GRCm39)		probably null	Het
Gm2178	T	C	14: 26,235,995 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,937,888 (GRCm39)	N390S	probably benign	Het
Hoxa10	T	A	6: 52,211,800 (GRCm39)	R39*	probably null	Het
Kcnj1	A	G	9: 32,308,478 (GRCm39)	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Naip1	T	A	13: 100,581,245 (GRCm39)	M1L	probably damaging	Het
Or10ak9	A	T	4: 118,726,341 (GRCm39)	Y121F	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,568,695 (GRCm39)		probably benign	Het
Pde1b	T	C	15: 103,429,909 (GRCm39)	V134A	probably damaging	Het
Plxnb2	A	T	15: 89,042,203 (GRCm39)	D1600E	probably benign	Het
Prss54	T	A	8: 96,292,086 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,465,741 (GRCm39)	I4757N	probably damaging	Het
Slc1a6	T	C	10: 78,624,822 (GRCm39)	Y76H	possibly damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Sox15	G	T	11: 69,546,716 (GRCm39)	G173V	possibly damaging	Het
Stard3	T	C	11: 98,263,088 (GRCm39)	S48P	probably damaging	Het
Stk32c	G	A	7: 138,702,839 (GRCm39)	Q67*	probably null	Het
Svil	T	A	18: 5,116,016 (GRCm39)	W2101R	probably damaging	Het
Taar7e	T	A	10: 23,914,427 (GRCm39)	Y306N	probably damaging	Het
Tarbp1	T	A	8: 127,154,280 (GRCm39)	M1485L	probably benign	Het
Togaram1	A	G	12: 65,014,261 (GRCm39)	D504G	probably damaging	Het
Trrap	T	C	5: 144,739,771 (GRCm39)	L1091S	possibly damaging	Het
Usp47	C	T	7: 111,687,139 (GRCm39)	T699M	probably damaging	Het

Other mutations in Unc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Unc80	APN	1	66,693,554 (GRCm39)	missense	possibly damaging	0.53
IGL00340:Unc80	APN	1	66,645,618 (GRCm39)	missense	possibly damaging	0.73
IGL00783:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00784:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00935:Unc80	APN	1	66,666,425 (GRCm39)	missense	possibly damaging	0.53
IGL01094:Unc80	APN	1	66,734,592 (GRCm39)	missense	possibly damaging	0.90
IGL01466:Unc80	APN	1	66,661,645 (GRCm39)	missense	probably benign	0.33
IGL01577:Unc80	APN	1	66,569,127 (GRCm39)	splice site	probably null
IGL01626:Unc80	APN	1	66,590,213 (GRCm39)	critical splice donor site	probably null
IGL01640:Unc80	APN	1	66,718,744 (GRCm39)	missense	probably benign	0.33
IGL01775:Unc80	APN	1	66,640,215 (GRCm39)	missense	possibly damaging	0.94
IGL01960:Unc80	APN	1	66,647,659 (GRCm39)	splice site	probably benign
IGL01991:Unc80	APN	1	66,508,668 (GRCm39)	nonsense	probably null
IGL02022:Unc80	APN	1	66,665,675 (GRCm39)	missense	possibly damaging	0.53
IGL02073:Unc80	APN	1	66,651,386 (GRCm39)	missense	possibly damaging	0.85
IGL02077:Unc80	APN	1	66,564,875 (GRCm39)	missense	possibly damaging	0.77
IGL02197:Unc80	APN	1	66,569,224 (GRCm39)	missense	probably benign	0.39
IGL02198:Unc80	APN	1	66,569,145 (GRCm39)	missense	possibly damaging	0.88
IGL02228:Unc80	APN	1	66,647,587 (GRCm39)	missense	possibly damaging	0.72
IGL02327:Unc80	APN	1	66,680,832 (GRCm39)	missense	probably benign	0.33
IGL02447:Unc80	APN	1	66,542,703 (GRCm39)	missense	possibly damaging	0.86
IGL02489:Unc80	APN	1	66,564,860 (GRCm39)	missense	probably benign	0.07
IGL02546:Unc80	APN	1	66,594,112 (GRCm39)	missense	possibly damaging	0.83
IGL02629:Unc80	APN	1	66,522,476 (GRCm39)	missense	possibly damaging	0.46
IGL02631:Unc80	APN	1	66,569,222 (GRCm39)	missense	probably damaging	0.98
IGL02839:Unc80	APN	1	66,710,834 (GRCm39)	missense	possibly damaging	0.53
IGL02960:Unc80	APN	1	66,717,217 (GRCm39)	splice site	probably benign
IGL02974:Unc80	APN	1	66,564,817 (GRCm39)	missense	possibly damaging	0.95
IGL03060:Unc80	APN	1	66,676,169 (GRCm39)	missense	possibly damaging	0.96
IGL03062:Unc80	APN	1	66,548,648 (GRCm39)	missense	probably damaging	0.96
IGL03074:Unc80	APN	1	66,710,877 (GRCm39)	splice site	probably benign
IGL03086:Unc80	APN	1	66,548,633 (GRCm39)	missense	probably damaging	0.99
IGL03105:Unc80	APN	1	66,511,258 (GRCm39)	missense	probably damaging	0.96
IGL03107:Unc80	APN	1	66,670,613 (GRCm39)	missense	probably damaging	0.98
IGL03158:Unc80	APN	1	66,680,833 (GRCm39)	missense	probably benign	0.33
IGL03220:Unc80	APN	1	66,544,097 (GRCm39)	missense	probably damaging	0.99
IGL03271:Unc80	APN	1	66,734,762 (GRCm39)	unclassified	probably benign
IGL03332:Unc80	APN	1	66,542,790 (GRCm39)	missense	probably damaging	1.00
IGL03347:Unc80	APN	1	66,734,625 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0026:Unc80	UTSW	1	66,560,743 (GRCm39)	missense	probably benign	0.27
R0055:Unc80	UTSW	1	66,545,782 (GRCm39)	splice site	probably benign
R0149:Unc80	UTSW	1	66,560,760 (GRCm39)	missense	possibly damaging	0.82
R0325:Unc80	UTSW	1	66,550,040 (GRCm39)	missense	probably damaging	1.00
R0329:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0330:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0355:Unc80	UTSW	1	66,589,015 (GRCm39)	missense	possibly damaging	0.77
R0412:Unc80	UTSW	1	66,590,096 (GRCm39)	splice site	probably benign
R0422:Unc80	UTSW	1	66,522,497 (GRCm39)	missense	probably damaging	1.00
R0477:Unc80	UTSW	1	66,609,160 (GRCm39)	missense	probably damaging	0.99
R0507:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0513:Unc80	UTSW	1	66,661,633 (GRCm39)	missense	possibly damaging	0.73
R0553:Unc80	UTSW	1	66,545,828 (GRCm39)	missense	probably damaging	0.97
R0626:Unc80	UTSW	1	66,647,601 (GRCm39)	missense	probably benign	0.01
R0655:Unc80	UTSW	1	66,542,940 (GRCm39)	missense	probably damaging	0.98
R0742:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0755:Unc80	UTSW	1	66,544,082 (GRCm39)	missense	probably damaging	1.00
R0782:Unc80	UTSW	1	66,661,740 (GRCm39)	missense	possibly damaging	0.53
R0837:Unc80	UTSW	1	66,688,103 (GRCm39)	missense	possibly damaging	0.73
R0841:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R0893:Unc80	UTSW	1	66,560,645 (GRCm39)	missense	probably damaging	0.97
R0900:Unc80	UTSW	1	66,710,757 (GRCm39)	missense	probably benign	0.33
R0924:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0930:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0989:Unc80	UTSW	1	66,685,599 (GRCm39)	missense	possibly damaging	0.53
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1224:Unc80	UTSW	1	66,511,139 (GRCm39)	missense	probably damaging	1.00
R1240:Unc80	UTSW	1	66,675,061 (GRCm39)	missense	possibly damaging	0.85
R1245:Unc80	UTSW	1	66,594,254 (GRCm39)	missense	possibly damaging	0.94
R1467:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1473:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1500:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1556:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1562:Unc80	UTSW	1	66,677,116 (GRCm39)	missense	probably damaging	1.00
R1655:Unc80	UTSW	1	66,711,915 (GRCm39)	missense	possibly damaging	0.86
R1674:Unc80	UTSW	1	66,548,467 (GRCm39)	missense	probably damaging	1.00
R1680:Unc80	UTSW	1	66,542,828 (GRCm39)	nonsense	probably null
R1739:Unc80	UTSW	1	66,567,051 (GRCm39)	missense	probably damaging	0.97
R1756:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1783:Unc80	UTSW	1	66,722,432 (GRCm39)	missense	probably benign	0.01
R1834:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1854:Unc80	UTSW	1	66,670,573 (GRCm39)	missense	possibly damaging	0.93
R1871:Unc80	UTSW	1	66,549,876 (GRCm39)	missense	possibly damaging	0.77
R1878:Unc80	UTSW	1	66,548,561 (GRCm39)	missense	probably damaging	0.96
R1883:Unc80	UTSW	1	66,564,929 (GRCm39)	missense	possibly damaging	0.89
R1912:Unc80	UTSW	1	66,549,784 (GRCm39)	missense	probably damaging	1.00
R1990:Unc80	UTSW	1	66,731,708 (GRCm39)	missense	probably damaging	0.97
R2007:Unc80	UTSW	1	66,542,935 (GRCm39)	missense	probably damaging	1.00
R2035:Unc80	UTSW	1	66,645,752 (GRCm39)	missense	probably damaging	0.98
R2056:Unc80	UTSW	1	66,679,711 (GRCm39)	missense	possibly damaging	0.72
R2060:Unc80	UTSW	1	66,679,754 (GRCm39)	missense	possibly damaging	0.53
R2074:Unc80	UTSW	1	66,718,903 (GRCm39)	critical splice donor site	probably null
R2088:Unc80	UTSW	1	66,629,386 (GRCm39)	missense	possibly damaging	0.77
R2089:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2091:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2139:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2169:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2175:Unc80	UTSW	1	66,716,514 (GRCm39)	missense	probably damaging	1.00
R2248:Unc80	UTSW	1	66,662,365 (GRCm39)	splice site	probably benign
R2255:Unc80	UTSW	1	66,657,417 (GRCm39)	missense	possibly damaging	0.53
R2308:Unc80	UTSW	1	66,688,156 (GRCm39)	missense	possibly damaging	0.53
R2484:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2507:Unc80	UTSW	1	66,651,266 (GRCm39)	missense	possibly damaging	0.53
R2512:Unc80	UTSW	1	66,710,767 (GRCm39)	missense	possibly damaging	0.70
R2878:Unc80	UTSW	1	66,710,735 (GRCm39)	critical splice acceptor site	probably benign
R3040:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3104:Unc80	UTSW	1	66,662,450 (GRCm39)	missense	probably benign	0.33
R3402:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3403:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3413:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3426:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3427:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3428:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3904:Unc80	UTSW	1	66,678,455 (GRCm39)	nonsense	probably null
R3916:Unc80	UTSW	1	66,716,654 (GRCm39)	missense	probably benign	0.11
R3950:Unc80	UTSW	1	66,661,729 (GRCm39)	missense	possibly damaging	0.53
R4642:Unc80	UTSW	1	66,710,873 (GRCm39)	splice site	probably null
R4646:Unc80	UTSW	1	66,708,394 (GRCm39)	missense	probably benign	0.03
R4655:Unc80	UTSW	1	66,710,821 (GRCm39)	missense	probably benign	0.18
R4662:Unc80	UTSW	1	66,685,595 (GRCm39)	missense	probably benign	0.01
R4720:Unc80	UTSW	1	66,549,951 (GRCm39)	missense	possibly damaging	0.92
R4736:Unc80	UTSW	1	66,688,831 (GRCm39)	critical splice acceptor site	probably null
R4795:Unc80	UTSW	1	66,567,100 (GRCm39)	missense	probably damaging	0.97
R4888:Unc80	UTSW	1	66,683,606 (GRCm39)	missense	probably damaging	0.98
R4917:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4918:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4983:Unc80	UTSW	1	66,713,891 (GRCm39)	splice site	probably null
R5051:Unc80	UTSW	1	66,548,636 (GRCm39)	missense	probably damaging	0.96
R5111:Unc80	UTSW	1	66,567,154 (GRCm39)	missense	possibly damaging	0.66
R5122:Unc80	UTSW	1	66,718,749 (GRCm39)	missense	possibly damaging	0.53
R5260:Unc80	UTSW	1	66,685,746 (GRCm39)	missense	possibly damaging	0.53
R5351:Unc80	UTSW	1	66,645,672 (GRCm39)	missense	possibly damaging	0.73
R5387:Unc80	UTSW	1	66,569,180 (GRCm39)	missense	possibly damaging	0.77
R5437:Unc80	UTSW	1	66,693,737 (GRCm39)	missense	possibly damaging	0.96
R5525:Unc80	UTSW	1	66,645,773 (GRCm39)	missense	possibly damaging	0.72
R5621:Unc80	UTSW	1	66,677,202 (GRCm39)	missense	possibly damaging	0.53
R5690:Unc80	UTSW	1	66,679,731 (GRCm39)	missense	probably benign	0.08
R5762:Unc80	UTSW	1	66,732,955 (GRCm39)	missense	possibly damaging	0.82
R5956:Unc80	UTSW	1	66,567,123 (GRCm39)	missense	probably damaging	0.97
R6005:Unc80	UTSW	1	66,666,416 (GRCm39)	missense	possibly damaging	0.53
R6025:Unc80	UTSW	1	66,734,727 (GRCm39)	missense	possibly damaging	0.90
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6156:Unc80	UTSW	1	66,651,409 (GRCm39)	missense	probably benign	0.01
R6157:Unc80	UTSW	1	66,693,188 (GRCm39)	nonsense	probably null
R6189:Unc80	UTSW	1	66,716,630 (GRCm39)	missense	probably benign	0.33
R6291:Unc80	UTSW	1	66,560,756 (GRCm39)	missense	possibly damaging	0.82
R6367:Unc80	UTSW	1	66,711,925 (GRCm39)	missense	probably benign	0.33
R6598:Unc80	UTSW	1	66,507,699 (GRCm39)	critical splice donor site	probably null
R6724:Unc80	UTSW	1	66,722,350 (GRCm39)	missense	possibly damaging	0.90
R6763:Unc80	UTSW	1	66,560,636 (GRCm39)	missense	probably benign	0.00
R6773:Unc80	UTSW	1	66,690,702 (GRCm39)	missense	probably benign	0.33
R6883:Unc80	UTSW	1	66,685,563 (GRCm39)	missense	probably benign	0.33
R6951:Unc80	UTSW	1	66,687,670 (GRCm39)	missense	possibly damaging	0.53
R6965:Unc80	UTSW	1	66,685,725 (GRCm39)	missense	probably benign	0.33
R6993:Unc80	UTSW	1	66,588,952 (GRCm39)	missense	possibly damaging	0.60
R7041:Unc80	UTSW	1	66,542,752 (GRCm39)	missense	probably benign	0.00
R7050:Unc80	UTSW	1	66,590,067 (GRCm39)	splice site	probably null
R7067:Unc80	UTSW	1	66,685,731 (GRCm39)	missense	possibly damaging	0.86
R7080:Unc80	UTSW	1	66,685,680 (GRCm39)	missense	possibly damaging	0.53
R7193:Unc80	UTSW	1	66,588,943 (GRCm39)	missense	possibly damaging	0.60
R7197:Unc80	UTSW	1	66,560,725 (GRCm39)	nonsense	probably null
R7278:Unc80	UTSW	1	66,591,368 (GRCm39)	missense	possibly damaging	0.82
R7290:Unc80	UTSW	1	66,640,356 (GRCm39)	missense	probably damaging	0.97
R7391:Unc80	UTSW	1	66,734,687 (GRCm39)	missense	probably benign	0.18
R7401:Unc80	UTSW	1	66,685,574 (GRCm39)	missense	possibly damaging	0.96
R7470:Unc80	UTSW	1	66,661,621 (GRCm39)	missense	probably benign	0.02
R7573:Unc80	UTSW	1	66,560,696 (GRCm39)	missense	probably damaging	1.00
R7637:Unc80	UTSW	1	66,711,843 (GRCm39)	missense	possibly damaging	0.86
R7678:Unc80	UTSW	1	66,688,881 (GRCm39)	missense	probably benign	0.33
R7697:Unc80	UTSW	1	66,677,104 (GRCm39)	missense	possibly damaging	0.93
R7746:Unc80	UTSW	1	66,716,544 (GRCm39)	missense	probably benign	0.33
R7768:Unc80	UTSW	1	66,549,754 (GRCm39)	missense	possibly damaging	0.56
R7796:Unc80	UTSW	1	66,542,873 (GRCm39)	missense	probably benign
R7855:Unc80	UTSW	1	66,522,508 (GRCm39)	missense	possibly damaging	0.78
R7878:Unc80	UTSW	1	66,640,300 (GRCm39)	missense	possibly damaging	0.88
R7879:Unc80	UTSW	1	66,549,866 (GRCm39)	missense	probably benign	0.00
R8024:Unc80	UTSW	1	66,645,803 (GRCm39)	missense	possibly damaging	0.86
R8026:Unc80	UTSW	1	66,522,463 (GRCm39)	missense	possibly damaging	0.92
R8115:Unc80	UTSW	1	66,688,072 (GRCm39)	missense	probably benign	0.00
R8135:Unc80	UTSW	1	66,548,446 (GRCm39)	missense	possibly damaging	0.49
R8170:Unc80	UTSW	1	66,690,692 (GRCm39)	missense	probably benign	0.33
R8239:Unc80	UTSW	1	66,693,178 (GRCm39)	missense	probably benign
R8249:Unc80	UTSW	1	66,658,650 (GRCm39)	missense	probably benign	0.01
R8275:Unc80	UTSW	1	66,679,773 (GRCm39)	nonsense	probably null
R8288:Unc80	UTSW	1	66,512,509 (GRCm39)	missense	probably benign	0.07
R8341:Unc80	UTSW	1	66,688,192 (GRCm39)	missense	possibly damaging	0.73
R8356:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8433:Unc80	UTSW	1	66,677,187 (GRCm39)	nonsense	probably null
R8456:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8464:Unc80	UTSW	1	66,512,423 (GRCm39)	missense	probably damaging	1.00
R8483:Unc80	UTSW	1	66,732,869 (GRCm39)	missense	possibly damaging	0.83
R8509:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8686:Unc80	UTSW	1	66,651,427 (GRCm39)	missense	possibly damaging	0.53
R8701:Unc80	UTSW	1	66,677,191 (GRCm39)	missense	possibly damaging	0.85
R8729:Unc80	UTSW	1	66,647,649 (GRCm39)	missense	probably benign	0.01
R8755:Unc80	UTSW	1	66,651,290 (GRCm39)	missense	possibly damaging	0.53
R8771:Unc80	UTSW	1	66,685,554 (GRCm39)	missense	possibly damaging	0.85
R8866:Unc80	UTSW	1	66,629,388 (GRCm39)	missense	probably benign	0.05
R8877:Unc80	UTSW	1	66,567,144 (GRCm39)	missense	possibly damaging	0.89
R8942:Unc80	UTSW	1	66,512,468 (GRCm39)	missense	possibly damaging	0.94
R8976:Unc80	UTSW	1	66,511,169 (GRCm39)	missense	possibly damaging	0.87
R9063:Unc80	UTSW	1	66,645,816 (GRCm39)	critical splice donor site	probably null
R9095:Unc80	UTSW	1	66,545,912 (GRCm39)	missense	probably damaging	1.00
R9125:Unc80	UTSW	1	66,718,740 (GRCm39)	missense	probably benign	0.18
R9130:Unc80	UTSW	1	66,677,244 (GRCm39)	missense	possibly damaging	0.85
R9165:Unc80	UTSW	1	66,589,000 (GRCm39)	missense	probably null	0.95
R9220:Unc80	UTSW	1	66,546,534 (GRCm39)	missense	probably damaging	1.00
R9262:Unc80	UTSW	1	66,594,411 (GRCm39)	intron	probably benign
R9334:Unc80	UTSW	1	66,688,919 (GRCm39)	missense	possibly damaging	0.73
R9374:Unc80	UTSW	1	66,629,460 (GRCm39)	missense	possibly damaging	0.95
R9387:Unc80	UTSW	1	66,589,097 (GRCm39)	critical splice donor site	probably null
R9415:Unc80	UTSW	1	66,550,064 (GRCm39)	missense
R9427:Unc80	UTSW	1	66,594,158 (GRCm39)	missense	probably damaging	1.00
R9436:Unc80	UTSW	1	66,732,964 (GRCm39)	critical splice donor site	probably null
R9454:Unc80	UTSW	1	66,734,749 (GRCm39)	missense	possibly damaging	0.53
R9522:Unc80	UTSW	1	66,677,221 (GRCm39)	missense	possibly damaging	0.73
R9539:Unc80	UTSW	1	66,609,163 (GRCm39)	critical splice donor site	probably null
R9552:Unc80	UTSW	1	66,717,282 (GRCm39)	missense	possibly damaging	0.85
R9667:Unc80	UTSW	1	66,651,287 (GRCm39)	missense	possibly damaging	0.86
R9720:Unc80	UTSW	1	66,683,485 (GRCm39)	missense	possibly damaging	0.53
R9749:Unc80	UTSW	1	66,544,179 (GRCm39)	missense	probably damaging	0.99
R9789:Unc80	UTSW	1	66,651,371 (GRCm39)	missense	possibly damaging	0.53
X0019:Unc80	UTSW	1	66,687,541 (GRCm39)	missense	probably benign	0.33
X0021:Unc80	UTSW	1	66,548,425 (GRCm39)	critical splice acceptor site	probably null
X0024:Unc80	UTSW	1	66,530,205 (GRCm39)	missense	probably benign	0.21
X0062:Unc80	UTSW	1	66,662,418 (GRCm39)	missense	probably benign	0.02
X0066:Unc80	UTSW	1	66,569,916 (GRCm39)	missense	possibly damaging	0.77
Y4335:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4336:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4338:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Z1088:Unc80	UTSW	1	66,685,610 (GRCm39)	missense	possibly damaging	0.85
Z1176:Unc80	UTSW	1	66,733,568 (GRCm39)	missense	probably benign
Z1177:Unc80	UTSW	1	66,734,498 (GRCm39)	missense	probably benign	0.03
Z1177:Unc80	UTSW	1	66,685,557 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AATGCACTTCAGATAGCCCG -3'
(R):5'- CTACACAGAGAAACCCTGTCTTG -3'

Sequencing Primer
(F):5'- CATCCAGGAGCAAGAACT -3'
(R):5'- GCCAAGATGAATCCATGG -3'

Posted On

2017-08-16