Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Unc80'

586121

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C230061B10Rik, C030018G13Rik

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66507526-66738307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66560696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 808 (G808D)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061620
AA Change: G808D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: G808D

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 damaging
Transcript: ENSMUST00000212557
AA Change: G808D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	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
R6117:Unc80	UTSW	1	66,714,226 (GRCm39)	missense	possibly damaging	0.72
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
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'- AAAGTGAGTTTGTTGAGCTCTTCAC -3'
(R):5'- ATTGCCCCAAGACAGTATTGATCAC -3'

Sequencing Primer
(F):5'- AGGTTAACAGGCGTGTCT -3'
(R):5'- GTTTTCAGGGAACATTGACCC -3'

Posted On

2019-10-24