Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00885:Gm597'

26578

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 #

IGL00885

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28776845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 702 (E702G)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

unknown
Transcript: ENSMUST00000059937
AA Change: E702G

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: E702G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 42,714,315		probably benign	Het
Adora2a	T	G	10: 75,333,451	F250V	probably damaging	Het
Atp8b5	T	C	4: 43,355,567	S516P	probably damaging	Het
Btbd16	A	G	7: 130,788,822	I150V	probably damaging	Het
Capn13	A	T	17: 73,339,425	I331N	possibly damaging	Het
Capzb	A	G	4: 139,287,050	S233G	probably benign	Het
Clasp2	A	G	9: 113,911,416	R1171G	probably damaging	Het
Col16a1	T	G	4: 130,096,910	I1419S	probably damaging	Het
Coro7	T	A	16: 4,635,026	Y286F	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Cyp11b2	T	C	15: 74,853,515	T252A	probably benign	Het
Daam1	T	A	12: 71,944,091	C160S	unknown	Het
Ephx4	T	C	5: 107,406,125		probably benign	Het
Fbxo47	A	T	11: 97,878,120	D63E	probably benign	Het
Fgf3	A	T	7: 144,840,784		probably benign	Het
Fstl4	C	T	11: 53,148,982	T331I	possibly damaging	Het
Gpr158	T	C	2: 21,649,021	F467S	probably damaging	Het
Igfbpl1	C	T	4: 45,826,478	V106I	probably damaging	Het
Ikzf2	T	C	1: 69,539,322	T271A	possibly damaging	Het
Kat14	T	A	2: 144,394,255	N302K	probably benign	Het
Kmt2c	G	T	5: 25,409,171	Q184K	possibly damaging	Het
Moxd2	A	G	6: 40,884,179		probably benign	Het
Nbeal2	C	A	9: 110,638,661	E479D	probably damaging	Het
Neo1	A	G	9: 58,888,463	L1231P	probably damaging	Het
Nfatc3	C	T	8: 106,099,177	P620L	probably damaging	Het
Nol9	T	C	4: 152,041,600	F253L	probably damaging	Het
Nutm2	T	A	13: 50,474,860	S653R	probably benign	Het
Olfr138	A	C	17: 38,274,899	I43L	probably benign	Het
Olfr1504	A	T	19: 13,888,168	M14K	probably benign	Het
Plcg1	A	G	2: 160,758,083	D921G	probably benign	Het
Plpp4	A	T	7: 129,321,533	I101F	probably damaging	Het
Psg17	A	T	7: 18,820,166	L53Q	probably damaging	Het
Ptpn4	A	T	1: 119,802,363	I20N	possibly damaging	Het
R3hdm1	A	T	1: 128,236,438	I1030L	probably damaging	Het
Rpl7	A	C	1: 16,102,583	S171A	possibly damaging	Het
Snx25	G	A	8: 46,038,476	T859M	probably damaging	Het
Tmem94	A	G	11: 115,795,328	M990V	probably damaging	Het
Tnnt2	A	G	1: 135,846,764		probably benign	Het
Ttn	T	C	2: 76,709,685	H34319R	possibly damaging	Het
Vmn1r72	A	G	7: 11,670,497	V8A	probably benign	Het
Zbtb41	A	G	1: 139,430,324	T457A	probably benign	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28778651	missense	possibly damaging	0.94
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
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

2013-04-17