Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Gm9631'

311142

Institutional Source

Beutler Lab

Gene Symbol

Gm9631

Ensembl Gene

Gene Name

predicted gene 9631

Synonyms

MMRRC Submission

040941-MU

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121906652-121925337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121943568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 281 (Y281H)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130783
AA Change: Y281H

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118097
Gene: ENSMUSG00000078564
AA Change: Y281H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
KRAB	30	86	3.16e-12	SMART
ZnF_C2H2	157	177	1.69e2	SMART
ZnF_C2H2	185	207	1.36e-2	SMART
ZnF_C2H2	213	235	6.78e-3	SMART
ZnF_C2H2	241	263	2.79e-4	SMART
ZnF_C2H2	269	291	1.2e-3	SMART
ZnF_C2H2	297	319	9.88e-5	SMART
ZnF_C2H2	325	347	7.78e-3	SMART
ZnF_C2H2	353	375	1.12e-3	SMART
ZnF_C2H2	381	403	7.78e-3	SMART
ZnF_C2H2	409	431	1.5e-4	SMART
ZnF_C2H2	437	459	9.08e-4	SMART
ZnF_C2H2	465	487	1.04e-3	SMART
ZnF_C2H2	493	515	2.27e-4	SMART
ZnF_C2H2	521	543	4.17e-3	SMART
ZnF_C2H2	550	572	1.1e-2	SMART
ZnF_C2H2	578	600	3.95e-4	SMART
ZnF_C2H2	606	628	7.9e-4	SMART
ZnF_C2H2	634	656	9.73e-4	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674	T61A	probably benign	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933		probably null	Het
Azin1	A	T	15: 38,498,713	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,897,088		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089		probably benign	Het
Eif3i	T	C	4: 129,592,336	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035	M402L	probably benign	Het
Fga	A	T	3: 83,030,183		probably null	Het
Foxp2	A	G	6: 15,197,208		probably benign	Het
Gbp2	C	T	3: 142,629,986	T149I	possibly damaging	Het
Gpr21	C	T	2: 37,517,850	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Lin9	T	A	1: 180,668,792	I298N	possibly damaging	Het
Lyst	G	A	13: 13,634,168	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr485	A	G	7: 108,159,612	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747		probably null	Het
Rorb	A	G	19: 18,937,890	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860		probably null	Het
Slc5a5	A	G	8: 70,889,395	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Tspan9	A	G	6: 127,967,247	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705		probably null	Het
Vmn2r68	T	A	7: 85,232,462	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het
Wee1	G	T	7: 110,124,555	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284	G36D	probably damaging	Het
Zmym6	T	C	4: 127,123,555	I951T	possibly damaging	Het

Other mutations in Gm9631

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Gm9631	APN	11	121945628	missense	possibly damaging	0.83
IGL02411:Gm9631	APN	11	121943652
IGL02417:Gm9631	APN	11	121943652
IGL02419:Gm9631	APN	11	121943652
IGL02420:Gm9631	APN	11	121943652
R0646:Gm9631	UTSW	11	121945629	missense	probably damaging	0.99
R0715:Gm9631	UTSW	11	121942502	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACGACTGTGTCCTCCA -3'
(R):5'- TCACAGCAGTCTCCAAATGCATA -3'

Sequencing Primer
(F):5'- TCCAAAGTCTTTACCACATTGATCAC -3'
(R):5'- ATCCATGTGGTAAAGCCTTTGC -3'

Posted On

2015-04-29