Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03267:Gm597'

415105

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: 0.057) question?

Stock #

IGL03267

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28777121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 610 (T610I)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: T610I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: T610I

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	C	T	5: 121,637,349 (GRCm38)	R430Q	probably benign	Het
Arfgef3	T	A	10: 18,591,882 (GRCm38)	I1857F	probably damaging	Het
Baat	T	A	4: 49,490,050 (GRCm38)	M345L	probably benign	Het
Babam1	T	G	8: 71,403,064 (GRCm38)		probably null	Het
Bbs7	A	G	3: 36,573,505 (GRCm38)	F711S	probably damaging	Het
Btrc	A	G	19: 45,518,823 (GRCm38)	E458G	probably damaging	Het
Car6	T	C	4: 150,196,046 (GRCm38)		probably benign	Het
Celsr3	T	C	9: 108,836,525 (GRCm38)		probably benign	Het
Csn2	A	G	5: 87,698,071 (GRCm38)	V3A	possibly damaging	Het
Ddc	T	C	11: 11,876,303 (GRCm38)	Y86C	probably damaging	Het
Dennd1b	A	T	1: 139,062,861 (GRCm38)	R188*	probably null	Het
Dnah1	C	A	14: 31,286,588 (GRCm38)	A2046S	probably benign	Het
Eif2b4	A	T	5: 31,192,659 (GRCm38)	S20T	possibly damaging	Het
Etl4	T	A	2: 20,785,182 (GRCm38)	C916*	probably null	Het
Fam78a	T	C	2: 32,069,667 (GRCm38)	I144V	probably benign	Het
Fcho1	A	G	8: 71,712,299 (GRCm38)		probably benign	Het
Gm4981	T	C	10: 58,235,787 (GRCm38)	T202A	probably damaging	Het
Il9r	T	A	11: 32,191,778 (GRCm38)	H320L	possibly damaging	Het
Kntc1	C	T	5: 123,758,480 (GRCm38)	T135M	probably damaging	Het
Lca5l	T	A	16: 96,159,783 (GRCm38)	Q498L	probably benign	Het
Map4k3	T	C	17: 80,664,028 (GRCm38)	H70R	probably damaging	Het
Mrps26	A	G	2: 130,564,936 (GRCm38)		probably null	Het
Olfr1057	A	T	2: 86,374,634 (GRCm38)	Y259*	probably null	Het
Olfr352	G	T	2: 36,870,501 (GRCm38)	A312S	probably benign	Het
Olfr729	A	G	14: 50,148,847 (GRCm38)	V9A	probably damaging	Het
Pik3cg	C	A	12: 32,205,308 (GRCm38)	G227C	possibly damaging	Het
Ptprn2	C	T	12: 116,876,344 (GRCm38)	Q496*	probably null	Het
Rif1	T	G	2: 52,076,988 (GRCm38)	N96K	possibly damaging	Het
Rreb1	A	C	13: 37,932,193 (GRCm38)	D1176A	probably benign	Het
Slc22a30	A	G	19: 8,337,958 (GRCm38)	I436T	probably benign	Het
Slc51a	G	A	16: 32,478,750 (GRCm38)	R110C	probably damaging	Het
Stab1	A	G	14: 31,142,729 (GRCm38)	C1950R	probably damaging	Het
Tns2	T	C	15: 102,105,378 (GRCm38)		probably null	Het
Ttf2	G	A	3: 100,944,804 (GRCm38)	R1009*	probably null	Het
Wfdc16	A	G	2: 164,638,542 (GRCm38)	V11A	possibly damaging	Het
Zfp367	A	G	13: 64,144,283 (GRCm38)		probably benign	Het
Zfp420	G	A	7: 29,875,483 (GRCm38)	R376H	probably damaging	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28,778,651 (GRCm38)	missense	possibly damaging	0.94
IGL00885:Gm597	APN	1	28,776,845 (GRCm38)	missense	unknown
IGL01296:Gm597	APN	1	28,777,056 (GRCm38)	missense	probably benign	0.23
IGL01476:Gm597	APN	1	28,777,453 (GRCm38)	missense	probably benign	0.04
IGL02125:Gm597	APN	1	28,776,338 (GRCm38)	missense	possibly damaging	0.91
IGL02410:Gm597	APN	1	28,778,631 (GRCm38)	missense	probably benign	0.25
IGL02982:Gm597	APN	1	28,778,054 (GRCm38)	missense	probably damaging	1.00
IGL03031:Gm597	APN	1	28,778,583 (GRCm38)	missense	probably benign	0.03
R0294:Gm597	UTSW	1	28,778,663 (GRCm38)	missense	probably benign	0.00
R0433:Gm597	UTSW	1	28,777,342 (GRCm38)	nonsense	probably null
R0485:Gm597	UTSW	1	28,778,142 (GRCm38)	missense	probably damaging	1.00
R0645:Gm597	UTSW	1	28,776,930 (GRCm38)	missense	probably damaging	0.99
R0744:Gm597	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R0836:Gm597	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R1036:Gm597	UTSW	1	28,777,802 (GRCm38)	missense	probably benign	0.01
R1302:Gm597	UTSW	1	28,776,340 (GRCm38)	missense	probably benign	0.00
R1394:Gm597	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1395:Gm597	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1514:Gm597	UTSW	1	28,778,748 (GRCm38)	missense	possibly damaging	0.83
R1535:Gm597	UTSW	1	28,777,424 (GRCm38)	missense	probably damaging	1.00
R2004:Gm597	UTSW	1	28,777,179 (GRCm38)	missense	probably damaging	1.00
R2021:Gm597	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R2022:Gm597	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R3115:Gm597	UTSW	1	28,776,329 (GRCm38)	missense	possibly damaging	0.92
R3615:Gm597	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3616:Gm597	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3862:Gm597	UTSW	1	28,777,641 (GRCm38)	missense	probably damaging	0.98
R4067:Gm597	UTSW	1	28,777,631 (GRCm38)	missense	probably damaging	0.98
R4119:Gm597	UTSW	1	28,777,973 (GRCm38)	missense	probably damaging	0.99
R4415:Gm597	UTSW	1	28,777,133 (GRCm38)	missense	probably benign	0.01
R5010:Gm597	UTSW	1	28,777,862 (GRCm38)	missense	possibly damaging	0.52
R5109:Gm597	UTSW	1	28,777,555 (GRCm38)	missense	possibly damaging	0.46
R5122:Gm597	UTSW	1	28,780,060 (GRCm38)	missense	probably benign	0.00
R5533:Gm597	UTSW	1	28,778,082 (GRCm38)	missense	probably damaging	1.00
R6085:Gm597	UTSW	1	28,778,227 (GRCm38)	missense	possibly damaging	0.55
R6116:Gm597	UTSW	1	28,778,699 (GRCm38)	missense	probably benign	0.01
R6750:Gm597	UTSW	1	28,777,414 (GRCm38)	missense	probably damaging	0.98
R6757:Gm597	UTSW	1	28,780,110 (GRCm38)	missense	probably damaging	0.98
R6774:Gm597	UTSW	1	28,776,893 (GRCm38)	missense	probably benign	0.00
R7156:Gm597	UTSW	1	28,776,767 (GRCm38)	missense	possibly damaging	0.53
R7365:Gm597	UTSW	1	28,780,152 (GRCm38)	missense	probably benign	0.04
R7739:Gm597	UTSW	1	28,777,608 (GRCm38)	missense	possibly damaging	0.72
R7996:Gm597	UTSW	1	28,778,406 (GRCm38)	missense	probably damaging	0.98
R8082:Gm597	UTSW	1	28,777,498 (GRCm38)	missense	probably benign	0.08
R8281:Gm597	UTSW	1	28,778,144 (GRCm38)	missense	possibly damaging	0.77
R8514:Gm597	UTSW	1	28,778,505 (GRCm38)	missense	probably damaging	1.00
R8944:Gm597	UTSW	1	28,777,074 (GRCm38)	missense	probably benign	0.00
R9042:Gm597	UTSW	1	28,776,956 (GRCm38)	missense	possibly damaging	0.72
R9101:Gm597	UTSW	1	28,776,659 (GRCm38)	missense	probably benign	0.04
R9106:Gm597	UTSW	1	28,776,894 (GRCm38)	missense	probably benign	0.00
R9173:Gm597	UTSW	1	28,777,349 (GRCm38)	missense	probably benign	0.22
R9596:Gm597	UTSW	1	28,776,607 (GRCm38)	missense	probably benign	0.07
R9632:Gm597	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20
R9656:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9659:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9661:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9663:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9710:Gm597	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20

Posted On

2016-08-02