Mutagenetix > Incidental Mutations

Incidental Mutation 'R5429:Gm10770'

427050

Institutional Source

Beutler Lab

Gene Symbol

Gm10770

Ensembl Gene

ENSMUSG00000074837

Gene Name

predicted gene 10770

Synonyms

MMRRC Submission

042995-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150178882-150179679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150179423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 58 (R58H)

Ref Sequence

ENSEMBL: ENSMUSP00000097015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099418] [ENSMUST00000109926]

AlphaFold

F7D043

Predicted Effect

probably benign
Transcript: ENSMUST00000099418
AA Change: R58H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097015
Gene: ENSMUSG00000074837
AA Change: R58H

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	34	8.09e0	SMART
ZnF_C2H2	40	62	8.4e1	SMART
ZnF_C2H2	68	90	1.12e-3	SMART
ZnF_C2H2	96	118	3.47e1	SMART
ZnF_C2H2	124	146	1.09e2	SMART
ZnF_C2H2	152	174	3.58e-2	SMART
ZnF_C2H2	180	202	6.23e-2	SMART
ZnF_C2H2	208	230	2.49e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109926

SMART Domains

Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	7e-15	BLAST
ZnF_C2H2	71	93	8.6e-5	SMART
ZnF_C2H2	99	121	1.76e-1	SMART
ZnF_C2H2	127	149	3.02e0	SMART
ZnF_C2H2	183	205	6.08e-5	SMART
ZnF_C2H2	211	233	1.04e-3	SMART
ZnF_C2H2	239	261	2.57e-3	SMART
ZnF_C2H2	267	289	1.06e-4	SMART
ZnF_C2H2	295	317	2.2e-2	SMART
ZnF_C2H2	323	345	4.47e-3	SMART
ZnF_C2H2	351	373	7.37e-4	SMART
ZnF_C2H2	379	401	4.24e-4	SMART
ZnF_C2H2	407	429	1.2e-3	SMART
ZnF_C2H2	435	457	2.61e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Gm10770

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
F5770:Gm10770	UTSW	2	150179484	nonsense	probably null
R1765:Gm10770	UTSW	2	150179338	missense	probably damaging	1.00
R1842:Gm10770	UTSW	2	150179156	missense	probably damaging	1.00
R3438:Gm10770	UTSW	2	150179549	splice site	probably null
R4564:Gm10770	UTSW	2	150178911	missense	probably benign	0.00
R4863:Gm10770	UTSW	2	150178896	nonsense	probably null
R5134:Gm10770	UTSW	2	150179560	splice site	probably null
R5424:Gm10770	UTSW	2	150179028	missense	probably benign	0.01
R5976:Gm10770	UTSW	2	150179400	nonsense	probably null
R6436:Gm10770	UTSW	2	150178910	missense	probably benign	0.07
R6679:Gm10770	UTSW	2	150179649	missense	probably damaging	1.00
V7580:Gm10770	UTSW	2	150179484	nonsense	probably null
V7581:Gm10770	UTSW	2	150179484	nonsense	probably null
V7583:Gm10770	UTSW	2	150179484	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGATGACACTCATAGGGTTTCC -3'
(R):5'- GGAGAAAGCCTATGTATTTCAGAGTC -3'

Sequencing Primer
(F):5'- GGGTTTCCCTCCTGTATGCG -3'
(R):5'- GTGTCCAACATTGTGAAGCC -3'

Posted On

2016-09-01