Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03031:Gm597'

408445

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 #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28778583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 123 (F123L)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: F123L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: F123L

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,314,024	D753G	probably benign	Het
Adat2	T	C	10: 13,556,846		probably benign	Het
Ahsa2	A	G	11: 23,490,426	L275S	probably benign	Het
Arhgef38	C	T	3: 133,132,067	D118N	possibly damaging	Het
Bicra	A	T	7: 15,975,801	H1097Q	probably benign	Het
C4b	T	C	17: 34,731,130	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,705,027	S194G	probably benign	Het
Chgb	C	A	2: 132,793,514	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385		probably benign	Het
Cpox	G	A	16: 58,672,560	G186R	probably damaging	Het
Cul5	A	G	9: 53,642,675		probably benign	Het
Epsti1	G	A	14: 77,974,581	R249K	probably benign	Het
Gabrg1	A	T	5: 70,794,682	Y90*	probably null	Het
Gabrp	T	C	11: 33,554,980	R274G	probably damaging	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Gm9825	T	C	6: 7,982,857		noncoding transcript	Het
Hectd4	C	T	5: 121,348,794	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,984,090	M245T	probably damaging	Het
Lpar6	T	C	14: 73,239,442	V281A	possibly damaging	Het
Med18	G	T	4: 132,459,613	Q192K	possibly damaging	Het
Mis18bp1	A	G	12: 65,161,930	V3A	probably benign	Het
Mpped2	G	T	2: 106,783,623		probably benign	Het
Ms4a10	A	G	19: 10,968,671	V32A	probably benign	Het
Mthfd1l	T	A	10: 4,018,601		probably null	Het
Myh1	A	T	11: 67,206,387	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,255,377	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,274,818	T921I	possibly damaging	Het
Olfr807	A	G	10: 129,755,369	L27P	possibly damaging	Het
Olfr894	A	C	9: 38,219,065	T81P	probably damaging	Het
Olfr960	A	G	9: 39,623,398	I92V	probably damaging	Het
Phf3	A	G	1: 30,804,653	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,650,232		probably null	Het
Poc5	A	G	13: 96,401,615	T263A	probably benign	Het
Prss41	T	A	17: 23,842,422	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,825,142	I329T	probably benign	Het
Rbm27	T	C	18: 42,333,399		probably null	Het
Rpgrip1l	A	T	8: 91,260,783	V882E	probably damaging	Het
Sec16b	T	C	1: 157,560,799	S579P	probably benign	Het
Senp7	A	G	16: 56,175,886	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638	I207V	probably benign	Het
Spats2	A	G	15: 99,180,688	T211A	probably benign	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Syt11	A	T	3: 88,748,841	M1K	probably null	Het
Tacc2	A	G	7: 130,623,855	T757A	possibly damaging	Het
Tecta	A	C	9: 42,345,493	M1629R	probably benign	Het
Ufsp2	T	A	8: 45,984,100	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368	C892S	probably damaging	Het
Ush1c	A	G	7: 46,224,937		probably benign	Het
Vwde	A	T	6: 13,208,382	V167E	probably benign	Het
Wdfy4	A	G	14: 33,140,651	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,574,821	T267A	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
IGL01476:Gm597	APN	1	28777453	missense	probably benign	0.04
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
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

2016-08-02