Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Gm597'

406594

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 #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28778054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 299 (H299R)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: H299R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: H299R

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431 (GRCm38)	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518 (GRCm38)	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815 (GRCm38)	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687 (GRCm38)	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776 (GRCm38)	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674 (GRCm38)	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm38)		probably benign	Het
Ces1a	A	G	8: 93,044,975 (GRCm38)	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539 (GRCm38)		probably benign	Het
Fat4	T	C	3: 38,890,843 (GRCm38)	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232 (GRCm38)	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769 (GRCm38)	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145 (GRCm38)		probably null	Het
Golgb1	A	C	16: 36,925,810 (GRCm38)	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988 (GRCm38)	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859 (GRCm38)	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709 (GRCm38)	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566 (GRCm38)	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149 (GRCm38)	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517 (GRCm38)	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611 (GRCm38)	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826 (GRCm38)	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208 (GRCm38)	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377 (GRCm38)	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109 (GRCm38)	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952 (GRCm38)	I84F	probably benign	Het
Plek	T	A	11: 16,981,826 (GRCm38)	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348 (GRCm38)	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707 (GRCm38)	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628 (GRCm38)	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684 (GRCm38)	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361 (GRCm38)	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549 (GRCm38)	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288 (GRCm38)	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253 (GRCm38)	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586 (GRCm38)	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853 (GRCm38)	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439 (GRCm38)	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441 (GRCm38)	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066 (GRCm38)	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870 (GRCm38)	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567 (GRCm38)	E367G	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
IGL03031:Gm597	APN	1	28,778,583 (GRCm38)	missense	probably benign	0.03
IGL03267:Gm597	APN	1	28,777,121 (GRCm38)	missense	probably damaging	1.00
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