Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02346:Gm5592'

289263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41289465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 724 (S724G)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

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

AlphaFold

Q3V0A6

Predicted Effect

probably damaging
Transcript: ENSMUST00000097044
AA Change: S724G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: S724G

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

probably damaging
Transcript: ENSMUST00000206490
AA Change: S724G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,238,699	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,443,919	V531A	probably benign	Het
Ano3	A	T	2: 110,770,926		probably benign	Het
Api5	A	T	2: 94,427,530	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,879,951		probably benign	Het
Atp13a5	T	A	16: 29,327,736	K247*	probably null	Het
Ccdc58	T	C	16: 36,091,835	V87A	probably damaging	Het
Col9a1	C	T	1: 24,223,609	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 127,032,936	V223A	probably benign	Het
Eml1	T	C	12: 108,537,441	S766P	possibly damaging	Het
Fam13b	G	T	18: 34,462,105	A402E	probably benign	Het
Gad2	A	G	2: 22,629,939		probably benign	Het
Gbf1	A	G	19: 46,285,930	E1859G	probably damaging	Het
Gli3	T	G	13: 15,723,693	V786G	probably damaging	Het
Hgs	A	G	11: 120,482,551	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,170,599		probably benign	Het
Id4	C	A	13: 48,261,713	Y72*	probably null	Het
Il5ra	T	A	6: 106,742,658	E71D	probably benign	Het
Kcnh4	G	A	11: 100,756,942	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,834,238	I1699L	probably damaging	Het
Madd	A	G	2: 91,162,491	Y1048H	probably damaging	Het
Nr2f1	C	A	13: 78,195,408	V246L	probably damaging	Het
Oas2	A	T	5: 120,736,088	I560N	probably benign	Het
Olfr24	T	C	9: 18,754,769	I289V	probably damaging	Het
Olfr27	T	C	9: 39,144,643	L181P	probably damaging	Het
Olfr346	A	T	2: 36,688,004	M1L	probably benign	Het
Pclo	A	G	5: 14,677,538		probably benign	Het
Pdss2	T	C	10: 43,345,643	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,057,736	T525I	probably benign	Het
Ralgps1	A	T	2: 33,157,770		probably null	Het
Rasal3	A	G	17: 32,399,349	W161R	probably damaging	Het
Sema5b	T	A	16: 35,649,755	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,486,531	M1L	probably benign	Het
Sptb	C	T	12: 76,621,014	D770N	probably damaging	Het
Tdp2	T	C	13: 24,841,352	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Vmn2r9	T	A	5: 108,842,984	N837I	probably benign	Het
Vmn2r-ps130	T	C	17: 23,061,527	V54A	possibly damaging	Het
Wdr7	A	T	18: 63,865,336	E1118V	probably benign	Het
Wwox	A	G	8: 114,712,118	H308R	probably benign	Het
Zbtb41	C	A	1: 139,447,100	P766Q	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
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
R5741:Gm5592	UTSW	7	41289201	missense	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
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

Posted On

2015-04-16