Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02904:Gm5592'

363739

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: 0.061) question?

Stock #

IGL02904

Quality Score

Status

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41288386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 364 (L364P)

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: L364P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: L364P

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: ENSMUST00000206040

Predicted Effect

probably damaging
Transcript: ENSMUST00000206490
AA Change: L364P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,484,454	S564P	probably damaging	Het
A1cf	A	C	19: 31,934,806	K432N	probably damaging	Het
Acp7	A	T	7: 28,608,003	D476E	probably benign	Het
Aqp9	T	A	9: 71,138,148	I60F	probably damaging	Het
B2m	A	C	2: 122,151,161		probably benign	Het
B3galt1	T	A	2: 68,118,745	V268E	probably damaging	Het
BC037034	C	T	5: 138,260,602	V232I	probably benign	Het
Cacna1a	T	C	8: 84,579,520	L1299P	probably damaging	Het
Ces2e	C	T	8: 104,931,338	P356L	probably benign	Het
Crmp1	A	T	5: 37,288,918	K639N	possibly damaging	Het
Ddx17	G	A	15: 79,530,437	R510*	probably null	Het
Dner	C	T	1: 84,534,944	V301M	probably damaging	Het
Efr3b	T	G	12: 3,984,583	I196L	probably damaging	Het
Fat1	T	C	8: 45,040,682	V3955A	probably damaging	Het
Gid4	T	C	11: 60,417,735	I27T	probably benign	Het
Glis3	A	G	19: 28,357,952	F571L	possibly damaging	Het
Gm4950	T	C	18: 51,865,731	I51V	probably benign	Het
Gm884	A	C	11: 103,616,361		probably benign	Het
Gucy2d	G	A	7: 98,462,189		probably null	Het
Kpna6	A	G	4: 129,650,687	I411T	probably benign	Het
Lcn11	A	G	2: 25,779,266	D145G	probably null	Het
Med12	A	G	X: 101,294,178		probably null	Het
Mtor	A	G	4: 148,452,394	K42E	possibly damaging	Het
Mtor	A	G	4: 148,491,612		probably benign	Het
Mybpc2	T	C	7: 44,522,341	D55G	probably benign	Het
Myo1f	T	A	17: 33,585,658	C445*	probably null	Het
Naca	C	T	10: 128,043,290		probably benign	Het
Nlgn2	T	C	11: 69,825,840	Y625C	possibly damaging	Het
Nlrp9c	A	T	7: 26,375,290	C827S	probably damaging	Het
Nudt12	T	A	17: 59,010,352	N100I	probably benign	Het
Olfr1009	T	C	2: 85,721,755	S117P	probably damaging	Het
Olfr224	T	A	11: 58,566,797	T183S	possibly damaging	Het
Olfr284	A	T	15: 98,340,848	L31Q	probably null	Het
Olfr77	A	T	9: 19,921,097	D296V	probably damaging	Het
Picalm	G	A	7: 90,176,411		probably benign	Het
Pkd1l1	A	G	11: 8,868,450		probably benign	Het
Scube3	T	C	17: 28,167,600	V831A	probably benign	Het
Slco5a1	A	G	1: 12,921,097	I456T	probably damaging	Het
Snx3	A	G	10: 42,534,694	H110R	probably damaging	Het
Spef2	T	C	15: 9,679,346	D635G	probably damaging	Het
St3gal5	A	T	6: 72,147,124	I212L	possibly damaging	Het
Syvn1	T	A	19: 6,049,815	Y192*	probably null	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Tmtc1	A	G	6: 148,249,482		probably benign	Het
Trip11	T	G	12: 101,886,838	E499D	probably damaging	Het
Ttn	A	T	2: 76,732,031	N28823K	probably damaging	Het
Unc13c	C	A	9: 73,481,067	G2146*	probably null	Het
Ush2a	G	T	1: 188,906,506	V4038L	probably benign	Het
Zc3h7a	T	G	16: 11,150,666	D483A	probably damaging	Het
Zfyve19	T	C	2: 119,210,472		probably benign	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
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
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

Posted On

2015-12-18