Mutagenetix > Incidental Mutation

Incidental Mutation 'R9415:Unc80'

711976

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C230061B10Rik, C030018G13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R9415 (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 T at 66550064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 774 (N774I)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: N774I

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: N774I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,476,598 (GRCm39)	M1340T	probably benign	Het
Arhgef15	A	G	11: 68,842,233 (GRCm39)	L457P	probably damaging	Het
Arih2	A	T	9: 108,486,986 (GRCm39)	C317S	probably damaging	Het
Asb14	A	T	14: 26,633,793 (GRCm39)	T333S	probably damaging	Het
Atp13a4	T	C	16: 29,227,821 (GRCm39)	N1012S		Het
Capn9	C	A	8: 125,332,449 (GRCm39)	D429E	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cntrob	C	T	11: 69,193,741 (GRCm39)	R803Q	possibly damaging	Het
Dnah8	A	G	17: 31,029,297 (GRCm39)	I4089V	probably benign	Het
Fam162b	A	G	10: 51,466,155 (GRCm39)		probably null	Het
Fhod3	A	G	18: 25,102,244 (GRCm39)	D180G	probably damaging	Het
Gtf3c4	A	G	2: 28,723,966 (GRCm39)	S589P	possibly damaging	Het
Jcad	T	C	18: 4,673,912 (GRCm39)	L558P	probably damaging	Het
Kmt2d	A	G	15: 98,737,586 (GRCm39)	I5170T	unknown	Het
Lamb3	T	C	1: 193,008,319 (GRCm39)	F251L	probably benign	Het
Lpxn	T	A	19: 12,802,336 (GRCm39)	D220E	probably benign	Het
Mex3a	T	A	3: 88,444,480 (GRCm39)	F519I	probably damaging	Het
Mfap1a	T	C	2: 121,337,001 (GRCm39)	M8V	probably benign	Het
Mical3	T	A	6: 120,934,712 (GRCm39)	D1789V	probably damaging	Het
Mpdz	G	A	4: 81,235,905 (GRCm39)	Q1211*	probably null	Het
Myd88	A	G	9: 119,167,070 (GRCm39)		probably null	Het
Myof	T	A	19: 37,941,412 (GRCm39)	K799N	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntn4	A	G	10: 93,480,488 (GRCm39)	T71A	probably benign	Het
Omd	A	C	13: 49,745,837 (GRCm39)	M416L	probably benign	Het
Oog1	G	C	12: 87,655,086 (GRCm39)	L411F	probably damaging	Het
Or10a3m	T	A	7: 108,313,042 (GRCm39)	W161R	probably damaging	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or56a5	T	G	7: 104,793,498 (GRCm39)	M7L	probably benign	Het
Or7e171-ps1	A	G	9: 19,853,200 (GRCm39)	W179R	probably benign	Het
Pde4dip	T	C	3: 97,660,468 (GRCm39)	Q670R	possibly damaging	Het
Pex13	C	A	11: 23,601,034 (GRCm39)	G272V	probably damaging	Het
Pfkl	A	T	10: 77,824,081 (GRCm39)	V769D	probably damaging	Het
Pkn3	A	G	2: 29,968,332 (GRCm39)	Y10C	probably benign	Het
Pomgnt1	A	G	4: 116,013,378 (GRCm39)	H500R	probably damaging	Het
Rasef	T	C	4: 73,645,882 (GRCm39)	T496A	probably benign	Het
Rgs6	A	G	12: 83,184,166 (GRCm39)	S459G	probably benign	Het
Serpinb6b	A	T	13: 33,159,002 (GRCm39)	M187L		Het
Shcbp1l	A	G	1: 153,321,627 (GRCm39)	I408M	possibly damaging	Het
Slc25a45	T	C	19: 5,934,967 (GRCm39)	V272A	probably damaging	Het
Tlr4	T	C	4: 66,746,160 (GRCm39)		probably null	Het
Urb2	T	A	8: 124,756,613 (GRCm39)	S773R	possibly damaging	Het
Vmn1r35	A	T	6: 66,656,115 (GRCm39)	V185E	probably damaging	Het
Vps13d	A	C	4: 144,796,527 (GRCm39)	V3691G		Het
Wdtc1	A	G	4: 133,022,684 (GRCm39)	V554A	possibly damaging	Het
Xrn1	A	T	9: 95,851,527 (GRCm39)	M182L	probably damaging	Het
Zfp747	T	C	7: 126,973,198 (GRCm39)	H324R	possibly 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
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
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
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'- CTTCCAGTTCAAAGGCGTGTC -3'
(R):5'- CCTGCTGAGCACATCATTTAAAAG -3'

Sequencing Primer
(F):5'- CCAGTTCAAAGGCGTGTCTTCAAG -3'
(R):5'- GCTGAGCACATCATTTAAAAGATTTC -3'

Posted On

2022-05-16