Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Gm5592'

444790

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41289201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 636 (I636V)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]

AlphaFold

Q3V0A6

Predicted Effect

probably benign
Transcript: ENSMUST00000097044
AA Change: I636V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: I636V

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	6.1e-60	PFAM
low complexity region	607	612	N/A	INTRINSIC
low complexity region	708	725	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably benign
Transcript: ENSMUST00000206490
AA Change: I636V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 107,028,489	F220C	probably damaging	Het
4932443I19Rik	A	T	8: 13,734,835	Q32L	possibly damaging	Het
Acox3	C	T	5: 35,608,324	H140Y	probably benign	Het
Ano3	A	T	2: 110,658,273	I938K	probably benign	Het
Ap3m1	A	C	14: 21,045,720	I14S	possibly damaging	Het
Arg1	T	C	10: 24,917,999	T127A	probably benign	Het
Asah2	A	G	19: 32,008,615	Y552H	probably damaging	Het
Chst12	A	G	5: 140,523,933	N105S	probably benign	Het
Cped1	G	A	6: 22,123,621	V458I	probably benign	Het
Cyld	T	G	8: 88,744,846	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,444,643	V489I	probably benign	Het
Dlgap4	T	C	2: 156,711,048	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,367	A617D	probably benign	Het
Erc2	T	A	14: 28,302,869		probably null	Het
Fancm	A	G	12: 65,101,615	N668S	probably benign	Het
Gtf2h2	A	T	13: 100,480,558	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,495	H122Q	probably damaging	Het
Ints10	G	A	8: 68,804,922	R258K	probably damaging	Het
Kir3dl1	G	A	X: 136,526,482	D56N	probably damaging	Het
Lrguk	T	A	6: 34,048,867	D199E	probably damaging	Het
Lyst	A	G	13: 13,634,030	D95G	probably benign	Het
Map2k1	A	T	9: 64,214,601	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,560,890		probably null	Het
Nfatc3	T	A	8: 106,079,066	I181N	probably damaging	Het
Nipbl	T	C	15: 8,324,649	K1668R	possibly damaging	Het
Olfr1467	A	G	19: 13,365,483	N285S	probably damaging	Het
Olfr862	A	G	9: 19,883,561	V248A	possibly damaging	Het
Olfr924	T	A	9: 38,848,603	L163*	probably null	Het
Otud7b	C	T	3: 96,144,304	T189I	probably damaging	Het
Pkia	A	T	3: 7,442,045	E62D	probably benign	Het
Plcb3	G	A	19: 6,954,422	Q1154*	probably null	Het
Pole4	T	C	6: 82,651,466	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,883	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,679,289	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,756,029	D564G	probably damaging	Het
Samhd1	C	T	2: 157,112,831	R387H	probably benign	Het
Spag1	A	G	15: 36,183,703	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,728,686	V345D	possibly damaging	Het
Spin1	G	A	13: 51,149,135	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,692,051	V197A	probably benign	Het
Tmigd1	T	C	11: 76,907,090	V86A	possibly damaging	Het
Ttn	T	C	2: 76,712,073	D31777G	probably damaging	Het
Tymp	T	A	15: 89,376,436	M60L	probably benign	Het
Ugdh	T	C	5: 65,427,523	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,229,469	C215F	probably benign	Het
Wnt5b	T	C	6: 119,433,729	D250G	probably damaging	Het
Xrn1	T	A	9: 96,045,551	C1463S	probably benign	Het
Zfp831	T	A	2: 174,645,152	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,840,017	D189G	probably damaging	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	41289095	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	41286074	splice site	probably benign
IGL01718:Gm5592	APN	7	41289193	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	41286371	nonsense	probably null
IGL02318:Gm5592	APN	7	41286788	missense	probably benign	0.37
IGL02346:Gm5592	APN	7	41289465	missense	probably damaging	0.97
IGL02904:Gm5592	APN	7	41288386	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	41286354	nonsense	probably null
R0465:Gm5592	UTSW	7	41156057	intron	probably benign
R0669:Gm5592	UTSW	7	41155830	intron	probably benign
R0675:Gm5592	UTSW	7	41289387	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	41286172	missense	probably benign
R1731:Gm5592	UTSW	7	41288413	missense	probably damaging	0.99
R3149:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3150:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	41157628	intron	probably benign
R3797:Gm5592	UTSW	7	41157835	intron	probably benign
R3854:Gm5592	UTSW	7	41157835	intron	probably benign
R3856:Gm5592	UTSW	7	41157835	intron	probably benign
R4009:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	41286628	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	41289067	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	41217778	intron	probably benign
R4289:Gm5592	UTSW	7	41158912	intron	probably benign
R4304:Gm5592	UTSW	7	41286262	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	41216118	intron	probably benign
R4408:Gm5592	UTSW	7	41286448	missense	probably benign	0.04
R4572:Gm5592	UTSW	7	41216159	intron	probably benign
R4764:Gm5592	UTSW	7	41216118	intron	probably benign
R4822:Gm5592	UTSW	7	41155890	intron	probably benign
R4836:Gm5592	UTSW	7	41215534	intron	probably benign
R4854:Gm5592	UTSW	7	41217471	intron	probably benign
R5032:Gm5592	UTSW	7	41289735	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	41158963	intron	probably benign
R5369:Gm5592	UTSW	7	41218211	intron	probably benign
R5424:Gm5592	UTSW	7	41155593	intron	probably benign
R5700:Gm5592	UTSW	7	41158579	intron	probably benign
R5802:Gm5592	UTSW	7	41219105	intron	probably benign
R5945:Gm5592	UTSW	7	41215612	intron	probably benign
R6117:Gm5592	UTSW	7	41288464	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	41286535	missense	probably damaging	0.98
R6449:Gm5592	UTSW	7	41288586	missense	probably benign	0.09
R6571:Gm5592	UTSW	7	41288575	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	41289729	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	41286443	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	41288710	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	41289859	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	41286694	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	41286759	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	41286463	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	41288551	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	41288822	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	41288850	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	41289463	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	41288983	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	41286452	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	41289810	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	41288508	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	41286317	missense	probably damaging	1.00
Z1176:Gm5592	UTSW	7	41286319	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	41288681	missense	probably benign	0.00

Predicted Primers

Posted On

2016-11-21