Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40938889 bp (GRCm39)

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: 114,376,760 (GRCm39)	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,750,919 (GRCm39)	V531A	probably benign	Het
Ano3	A	T	2: 110,601,271 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,257,875 (GRCm39)	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,884,762 (GRCm39)		probably benign	Het
Atp13a5	T	A	16: 29,146,554 (GRCm39)	K247*	probably null	Het
Col9a1	C	T	1: 24,262,690 (GRCm39)	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 126,868,805 (GRCm39)	V223A	probably benign	Het
Eml1	T	C	12: 108,503,700 (GRCm39)	S766P	possibly damaging	Het
Fam13b	G	T	18: 34,595,158 (GRCm39)	A402E	probably benign	Het
Gad2	A	G	2: 22,519,951 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,274,369 (GRCm39)	E1859G	probably damaging	Het
Gli3	T	G	13: 15,898,278 (GRCm39)	V786G	probably damaging	Het
Hgs	A	G	11: 120,373,377 (GRCm39)	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,147,579 (GRCm39)		probably benign	Het
Id4	C	A	13: 48,415,189 (GRCm39)	Y72*	probably null	Het
Il5ra	T	A	6: 106,719,619 (GRCm39)	E71D	probably benign	Het
Kcnh4	G	A	11: 100,647,768 (GRCm39)	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,967,291 (GRCm39)	I1699L	probably damaging	Het
Madd	A	G	2: 90,992,836 (GRCm39)	Y1048H	probably damaging	Het
Mix23	T	C	16: 35,912,205 (GRCm39)	V87A	probably damaging	Het
Nr2f1	C	A	13: 78,343,527 (GRCm39)	V246L	probably damaging	Het
Oas2	A	T	5: 120,874,153 (GRCm39)	I560N	probably benign	Het
Or1j17	A	T	2: 36,578,016 (GRCm39)	M1L	probably benign	Het
Or1m1	T	C	9: 18,666,065 (GRCm39)	I289V	probably damaging	Het
Or8g19	T	C	9: 39,055,939 (GRCm39)	L181P	probably damaging	Het
Pclo	A	G	5: 14,727,552 (GRCm39)		probably benign	Het
Pdss2	T	C	10: 43,221,639 (GRCm39)	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,104,510 (GRCm39)	T525I	probably benign	Het
Ralgps1	A	T	2: 33,047,782 (GRCm39)		probably null	Het
Rasal3	A	G	17: 32,618,323 (GRCm39)	W161R	probably damaging	Het
Sema5b	T	A	16: 35,470,125 (GRCm39)	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,670,514 (GRCm39)	M1L	probably benign	Het
Sptb	C	T	12: 76,667,788 (GRCm39)	D770N	probably damaging	Het
Tdp2	T	C	13: 25,025,335 (GRCm39)	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Vmn2r130	T	C	17: 23,280,501 (GRCm39)	V54A	possibly damaging	Het
Vmn2r9	T	A	5: 108,990,850 (GRCm39)	N837I	probably benign	Het
Wdr7	A	T	18: 63,998,407 (GRCm39)	E1118V	probably benign	Het
Wwox	A	G	8: 115,438,858 (GRCm39)	H308R	probably benign	Het
Zbtb41	C	A	1: 139,374,838 (GRCm39)	P766Q	probably damaging	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	40,938,519 (GRCm39)	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	40,935,498 (GRCm39)	splice site	probably benign
IGL01718:Gm5592	APN	7	40,938,617 (GRCm39)	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	40,935,795 (GRCm39)	nonsense	probably null
IGL02318:Gm5592	APN	7	40,936,212 (GRCm39)	missense	probably benign	0.37
IGL02904:Gm5592	APN	7	40,937,810 (GRCm39)	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	40,935,778 (GRCm39)	nonsense	probably null
R0465:Gm5592	UTSW	7	40,805,481 (GRCm39)	intron	probably benign
R0669:Gm5592	UTSW	7	40,805,254 (GRCm39)	intron	probably benign
R0675:Gm5592	UTSW	7	40,938,811 (GRCm39)	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	40,935,596 (GRCm39)	missense	probably benign
R1731:Gm5592	UTSW	7	40,937,837 (GRCm39)	missense	probably damaging	0.99
R3149:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3150:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	40,807,052 (GRCm39)	intron	probably benign
R3797:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3854:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3856:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R4009:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	40,936,052 (GRCm39)	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	40,938,491 (GRCm39)	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	40,867,202 (GRCm39)	intron	probably benign
R4289:Gm5592	UTSW	7	40,808,336 (GRCm39)	intron	probably benign
R4304:Gm5592	UTSW	7	40,935,686 (GRCm39)	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4408:Gm5592	UTSW	7	40,935,872 (GRCm39)	missense	probably benign	0.04
R4572:Gm5592	UTSW	7	40,865,583 (GRCm39)	intron	probably benign
R4764:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4822:Gm5592	UTSW	7	40,805,314 (GRCm39)	intron	probably benign
R4836:Gm5592	UTSW	7	40,864,958 (GRCm39)	intron	probably benign
R4854:Gm5592	UTSW	7	40,866,895 (GRCm39)	intron	probably benign
R5032:Gm5592	UTSW	7	40,939,159 (GRCm39)	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	40,808,387 (GRCm39)	intron	probably benign
R5369:Gm5592	UTSW	7	40,867,635 (GRCm39)	intron	probably benign
R5424:Gm5592	UTSW	7	40,805,017 (GRCm39)	intron	probably benign
R5700:Gm5592	UTSW	7	40,808,003 (GRCm39)	intron	probably benign
R5741:Gm5592	UTSW	7	40,938,625 (GRCm39)	missense	probably benign
R5802:Gm5592	UTSW	7	40,868,529 (GRCm39)	intron	probably benign
R5945:Gm5592	UTSW	7	40,865,036 (GRCm39)	intron	probably benign
R6117:Gm5592	UTSW	7	40,937,888 (GRCm39)	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	40,935,959 (GRCm39)	missense	probably damaging	0.98
R6449:Gm5592	UTSW	7	40,938,010 (GRCm39)	missense	probably benign	0.09
R6571:Gm5592	UTSW	7	40,937,999 (GRCm39)	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	40,939,153 (GRCm39)	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	40,935,867 (GRCm39)	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	40,938,134 (GRCm39)	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	40,939,283 (GRCm39)	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	40,936,118 (GRCm39)	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	40,936,183 (GRCm39)	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	40,935,887 (GRCm39)	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	40,937,975 (GRCm39)	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	40,938,246 (GRCm39)	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	40,938,274 (GRCm39)	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	40,938,887 (GRCm39)	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	40,938,407 (GRCm39)	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	40,935,876 (GRCm39)	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	40,939,234 (GRCm39)	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	40,937,932 (GRCm39)	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	40,938,105 (GRCm39)	missense	probably benign	0.00
Z1176:Gm5592	UTSW	7	40,935,743 (GRCm39)	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	40,935,741 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16