Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Gm5134'

76147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

75954514-76009591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76004747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 475 (L475R)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099577]

AlphaFold

E9QAB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099577
AA Change: L475R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: L475R

Domain	Start	End	E-Value	Type
Pfam:SSF	32	466	2.9e-119	PFAM
transmembrane domain	500	522	N/A	INTRINSIC
transmembrane domain	651	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184957

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,776	E504G	possibly damaging	Het
Abcc9	C	T	6: 142,656,614	R691Q	probably benign	Het
AI314180	A	G	4: 58,809,718	L1583P	probably damaging	Het
Ambra1	G	T	2: 91,825,286	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,682,960	I198V	probably benign	Het
Bptf	T	C	11: 107,055,907	N2353S	probably benign	Het
Cd84	A	T	1: 171,886,370	T312S	probably benign	Het
Chl1	G	T	6: 103,715,364	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,960,672	D473G	probably damaging	Het
Dsp	A	G	13: 38,193,617	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,638,851	N2374S	probably benign	Het
Gm43191	A	T	3: 116,645,463	I130N	probably damaging	Het
Grm1	A	G	10: 10,720,039	V615A	probably benign	Het
Loxl1	T	A	9: 58,294,422	Q462L	possibly damaging	Het
Nwd1	T	C	8: 72,675,115	W755R	probably damaging	Het
Olfr1102	A	T	2: 87,002,923	K318M	probably benign	Het
Olfr1408	A	G	1: 173,130,531	S229P	possibly damaging	Het
Olfr1459	G	A	19: 13,145,828	T277I	possibly damaging	Het
Otud4	T	C	8: 79,673,761	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325	D551E	probably benign	Het
Panx3	T	G	9: 37,661,475	T260P	probably benign	Het
Ppfia4	A	T	1: 134,328,086	S194T	probably benign	Het
Rnf135	T	A	11: 80,189,255	I124N	probably benign	Het
Rpf1	T	C	3: 146,507,547	N283S	probably damaging	Het
Smg5	A	G	3: 88,359,644		probably benign	Het
Stard9	A	G	2: 120,701,368	E2702G	probably benign	Het
Tbk1	A	T	10: 121,559,871	M439K	probably benign	Het
Tmem235	T	C	11: 117,862,306	L85P	possibly damaging	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Ttn	T	C	2: 76,790,264		probably benign	Het
Vmn1r83	A	G	7: 12,321,233	F299S	probably benign	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gm5134	APN	10	76000421	missense	possibly damaging	0.70
IGL02140:Gm5134	APN	10	75986111	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75954702	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	76008500	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75992489	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75974224	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75992525	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75978381	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75992527	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75976346	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	76004846	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75966393	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	76004884	missense	possibly damaging	0.92
R2188:Gm5134	UTSW	10	75995836	missense	probably damaging	1.00
R3551:Gm5134	UTSW	10	76000447	missense	probably benign	0.08
R4074:Gm5134	UTSW	10	76008531	missense	probably damaging	1.00
R4435:Gm5134	UTSW	10	75995824	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	76008575	missense	probably benign	0.00
R5180:Gm5134	UTSW	10	75976366	missense	probably damaging	1.00
R5446:Gm5134	UTSW	10	75995836	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75985952	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75986108	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	76004760	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	76008616	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75995839	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75986025	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75995809	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75954660	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	76008619	missense	probably benign
R7049:Gm5134	UTSW	10	75992458	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	76000399	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75964437	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	76008811	missense	probably damaging	1.00
X0050:Gm5134	UTSW	10	75992510	missense	probably damaging	1.00

Posted On

2013-10-07