Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01476:Gm597'

88471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01476

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28777453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 499 (H499Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059937]

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: H499Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: H499Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	112	129	N/A	INTRINSIC
Pfam:FAM75	137	472	8.1e-14	PFAM
low complexity region	664	675	N/A	INTRINSIC
internal_repeat_1	718	807	1.4e-5	PROSPERO
internal_repeat_1	807	894	1.4e-5	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,403,834	T3719A	probably damaging	Het
Abcc10	A	G	17: 46,327,937		probably benign	Het
Atp13a2	G	A	4: 141,000,770	C558Y	probably damaging	Het
BC017643	T	C	11: 121,225,845	Y86C	probably damaging	Het
Btbd1	G	A	7: 81,801,049	R328*	probably null	Het
Cdk8	A	G	5: 146,295,163		probably null	Het
Chd8	A	T	14: 52,205,490	N534K	probably benign	Het
Dlgap2	C	T	8: 14,778,301	R570*	probably null	Het
Eri2	A	C	7: 119,790,249	F149V	probably damaging	Het
Esyt1	A	G	10: 128,511,494	M1054T	probably damaging	Het
Gcm2	A	G	13: 41,105,741	V84A	probably damaging	Het
Got1	A	C	19: 43,524,409	V16G	probably damaging	Het
Itga9	C	T	9: 118,607,111	R62C	probably damaging	Het
Kif21a	T	C	15: 90,943,864	R1232G	possibly damaging	Het
Map1a	A	G	2: 121,305,207	Y1930C	probably damaging	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Olfr384	T	C	11: 73,603,230	S217P	probably damaging	Het
Olfr701	G	A	7: 106,818,620	C179Y	probably damaging	Het
Pclo	A	G	5: 14,521,108	K169R	probably damaging	Het
Rnf169	A	C	7: 99,955,484	Y174D	probably damaging	Het
Sarm1	T	C	11: 78,490,811	E282G	probably damaging	Het
Sec24a	A	G	11: 51,708,956	S840P	possibly damaging	Het
Skor2	A	T	18: 76,858,667	Q28L	unknown	Het
Slc35f2	T	C	9: 53,806,706	V168A	possibly damaging	Het
Slc6a7	A	T	18: 61,005,773	L221Q	probably damaging	Het
Syt4	A	T	18: 31,441,643	V307E	probably damaging	Het
Tasp1	A	G	2: 140,008,773	L110S	probably benign	Het
Thnsl1	T	A	2: 21,212,159	D241E	probably benign	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Tpbpb	A	T	13: 60,902,134	D60E	probably benign	Het
Trip11	T	C	12: 101,898,911	I168V	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Wscd2	A	G	5: 113,572,321	D302G	probably damaging	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28778651	missense	possibly damaging	0.94
IGL00885:Gm597	APN	1	28776845	missense	unknown
IGL01296:Gm597	APN	1	28777056	missense	probably benign	0.23
IGL02125:Gm597	APN	1	28776338	missense	possibly damaging	0.91
IGL02410:Gm597	APN	1	28778631	missense	probably benign	0.25
IGL02982:Gm597	APN	1	28778054	missense	probably damaging	1.00
IGL03031:Gm597	APN	1	28778583	missense	probably benign	0.03
IGL03267:Gm597	APN	1	28777121	missense	probably damaging	1.00
R0294:Gm597	UTSW	1	28778663	missense	probably benign	0.00
R0433:Gm597	UTSW	1	28777342	nonsense	probably null
R0485:Gm597	UTSW	1	28778142	missense	probably damaging	1.00
R0645:Gm597	UTSW	1	28776930	missense	probably damaging	0.99
R0744:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R0836:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R1036:Gm597	UTSW	1	28777802	missense	probably benign	0.01
R1302:Gm597	UTSW	1	28776340	missense	probably benign	0.00
R1394:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1395:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1514:Gm597	UTSW	1	28778748	missense	possibly damaging	0.83
R1535:Gm597	UTSW	1	28777424	missense	probably damaging	1.00
R2004:Gm597	UTSW	1	28777179	missense	probably damaging	1.00
R2021:Gm597	UTSW	1	28778153	missense	probably damaging	0.98
R2022:Gm597	UTSW	1	28778153	missense	probably damaging	0.98
R3115:Gm597	UTSW	1	28776329	missense	possibly damaging	0.92
R3615:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3616:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3862:Gm597	UTSW	1	28777641	missense	probably damaging	0.98
R4067:Gm597	UTSW	1	28777631	missense	probably damaging	0.98
R4119:Gm597	UTSW	1	28777973	missense	probably damaging	0.99
R4415:Gm597	UTSW	1	28777133	missense	probably benign	0.01
R5010:Gm597	UTSW	1	28777862	missense	possibly damaging	0.52
R5109:Gm597	UTSW	1	28777555	missense	possibly damaging	0.46
R5122:Gm597	UTSW	1	28780060	missense	probably benign	0.00
R5533:Gm597	UTSW	1	28778082	missense	probably damaging	1.00
R6085:Gm597	UTSW	1	28778227	missense	possibly damaging	0.55
R6116:Gm597	UTSW	1	28778699	missense	probably benign	0.01
R6750:Gm597	UTSW	1	28777414	missense	probably damaging	0.98
R6757:Gm597	UTSW	1	28780110	missense	probably damaging	0.98
R6774:Gm597	UTSW	1	28776893	missense	probably benign	0.00
R7156:Gm597	UTSW	1	28776767	missense	possibly damaging	0.53
R7365:Gm597	UTSW	1	28780152	missense	probably benign	0.04
R7739:Gm597	UTSW	1	28777608	missense	possibly damaging	0.72
R7996:Gm597	UTSW	1	28778406	missense	probably damaging	0.98
R8082:Gm597	UTSW	1	28777498	missense	probably benign	0.08
R8281:Gm597	UTSW	1	28778144	missense	possibly damaging	0.77
R8514:Gm597	UTSW	1	28778505	missense	probably damaging	1.00
R8944:Gm597	UTSW	1	28777074	missense	probably benign	0.00
R9042:Gm597	UTSW	1	28776956	missense	possibly damaging	0.72
R9101:Gm597	UTSW	1	28776659	missense	probably benign	0.04
R9106:Gm597	UTSW	1	28776894	missense	probably benign	0.00
R9173:Gm597	UTSW	1	28777349	missense	probably benign	0.22
R9596:Gm597	UTSW	1	28776607	missense	probably benign	0.07
R9632:Gm597	UTSW	1	28778039	missense	probably benign	0.20
R9656:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9659:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9661:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9663:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9710:Gm597	UTSW	1	28778039	missense	probably benign	0.20

Posted On

2013-11-18