Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Gm5134'

28351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

75790348-75845425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75836255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 412 (I412T)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

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

AlphaFold

E9QAB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099577
AA Change: I412T

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: I412T

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: ENSMUST00000134234

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Ace	A	T	11: 105,870,376 (GRCm39)	K265I	probably benign	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Clk2	A	G	3: 89,082,729 (GRCm39)	M393V	probably damaging	Het
Cyc1	A	G	15: 76,229,365 (GRCm39)	I242V	probably benign	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fbxw10	G	A	11: 62,764,327 (GRCm39)	V675M	probably damaging	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Gm5134	APN	10	75,840,581 (GRCm39)	missense	probably damaging	0.99
IGL02140:Gm5134	APN	10	75,821,945 (GRCm39)	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75,790,536 (GRCm39)	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	75,844,334 (GRCm39)	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75,828,323 (GRCm39)	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75,810,058 (GRCm39)	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75,829,718 (GRCm39)	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75,829,718 (GRCm39)	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75,829,698 (GRCm39)	missense	probably benign	0.01
R0035:Gm5134	UTSW	10	75,829,698 (GRCm39)	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75,810,079 (GRCm39)	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75,828,359 (GRCm39)	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75,810,079 (GRCm39)	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75,814,215 (GRCm39)	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75,828,361 (GRCm39)	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75,812,180 (GRCm39)	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	75,840,680 (GRCm39)	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75,802,227 (GRCm39)	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	75,840,718 (GRCm39)	missense	possibly damaging	0.92
R2188:Gm5134	UTSW	10	75,831,670 (GRCm39)	missense	probably damaging	1.00
R3551:Gm5134	UTSW	10	75,836,281 (GRCm39)	missense	probably benign	0.08
R4074:Gm5134	UTSW	10	75,844,365 (GRCm39)	missense	probably damaging	1.00
R4435:Gm5134	UTSW	10	75,831,658 (GRCm39)	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	75,844,409 (GRCm39)	missense	probably benign	0.00
R5180:Gm5134	UTSW	10	75,812,200 (GRCm39)	missense	probably damaging	1.00
R5446:Gm5134	UTSW	10	75,831,670 (GRCm39)	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75,821,786 (GRCm39)	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75,821,942 (GRCm39)	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	75,840,594 (GRCm39)	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	75,844,450 (GRCm39)	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75,831,673 (GRCm39)	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75,821,859 (GRCm39)	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75,831,643 (GRCm39)	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75,790,494 (GRCm39)	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	75,844,453 (GRCm39)	missense	probably benign
R7049:Gm5134	UTSW	10	75,828,292 (GRCm39)	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	75,836,233 (GRCm39)	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75,800,271 (GRCm39)	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	75,844,645 (GRCm39)	missense	probably damaging	1.00
R9716:Gm5134	UTSW	10	75,821,943 (GRCm39)	missense	probably benign	0.27
R9718:Gm5134	UTSW	10	75,828,331 (GRCm39)	missense	possibly damaging	0.90
X0050:Gm5134	UTSW	10	75,828,344 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17