Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03193:Gm382'

412697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm382

Ensembl Gene

ENSMUSG00000062791

Gene Name

predicted gene 382

Synonyms

LOC211208

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL03193

Quality Score

Status

Chromosome

Chromosomal Location

125947595-125971609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125971321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1169 (A1169T)

Ref Sequence

ENSEMBL: ENSMUSP00000094056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096332]

AlphaFold

B1AXN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096332
AA Change: A1169T

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

SMART Domains

Protein: ENSMUSP00000094056
Gene: ENSMUSG00000062791
AA Change: A1169T

Domain	Start	End	E-Value	Type
KH	351	416	4.04e-3	SMART
KH	421	489	2.98e-1	SMART
KH	493	562	2.26e-6	SMART
KH	567	635	1.55e-13	SMART
KH	639	708	1.12e-1	SMART
KH	713	782	7.82e-10	SMART
KH	786	855	1.73e-2	SMART
KH	859	957	1.28e-5	SMART
KH	958	1024	9.48e-9	SMART
KH	1036	1106	1.18e-4	SMART
KH	1110	1178	6.11e-12	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Arhgef12	T	C	9: 42,903,829 (GRCm39)		probably benign	Het
Bmper	C	A	9: 23,277,544 (GRCm39)	H211Q	possibly damaging	Het
C130074G19Rik	A	T	1: 184,614,899 (GRCm39)	L97Q	probably damaging	Het
Csmd3	A	T	15: 47,492,626 (GRCm39)		probably benign	Het
Cyb561a3	T	C	19: 10,559,764 (GRCm39)	Y30H	probably benign	Het
Cyp2a22	T	A	7: 26,635,846 (GRCm39)	D239V	probably benign	Het
Fras1	A	T	5: 96,925,965 (GRCm39)	Y3723F	probably damaging	Het
Frem1	C	T	4: 82,912,263 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,020 (GRCm39)	L696P	probably damaging	Het
Gse1	G	T	8: 121,298,079 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,309,962 (GRCm39)	L1104P	probably benign	Het
Myh14	A	G	7: 44,279,369 (GRCm39)	V945A	possibly damaging	Het
Myo7a	A	G	7: 97,740,264 (GRCm39)	F577L	probably damaging	Het
Ndst2	A	T	14: 20,779,917 (GRCm39)	S108T	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Neo1	T	C	9: 58,815,767 (GRCm39)	Y836C	probably damaging	Het
Nlrp4e	T	C	7: 23,020,251 (GRCm39)	L246P	probably damaging	Het
Or52n2	A	G	7: 104,542,263 (GRCm39)	C191R	probably benign	Het
Osbpl9	A	G	4: 108,924,163 (GRCm39)	S471P	possibly damaging	Het
Patl1	T	A	19: 11,898,204 (GRCm39)	D127E	possibly damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Prlr	T	A	15: 10,328,376 (GRCm39)	S284T	possibly damaging	Het
Prps2	A	T	X: 166,157,080 (GRCm39)	N75K	possibly damaging	Het
Sec16b	A	T	1: 157,362,963 (GRCm39)	M265L	probably benign	Het
Slc9a2	G	T	1: 40,795,431 (GRCm39)	V511L	probably benign	Het
Tm9sf5	A	G	X: 56,463,503 (GRCm39)		probably benign	Het
Tnp1	G	A	1: 73,054,923 (GRCm39)	R34W	probably damaging	Het
Tpr	A	G	1: 150,315,831 (GRCm39)	D2036G	possibly damaging	Het
Trpm6	T	C	19: 18,803,236 (GRCm39)	V893A	possibly damaging	Het
Tshb	T	C	3: 102,685,515 (GRCm39)	Y38C	probably damaging	Het
Usp17lb	A	T	7: 104,490,484 (GRCm39)	S148T	possibly damaging	Het

Other mutations in Gm382

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Gm382	APN	X	125,971,238 (GRCm39)	missense	probably damaging	1.00
IGL00594:Gm382	APN	X	125,970,775 (GRCm39)	missense	probably benign	0.32
IGL00768:Gm382	APN	X	125,968,366 (GRCm39)	nonsense	probably null
IGL03285:Gm382	APN	X	125,969,318 (GRCm39)	missense	possibly damaging	0.93
R2128:Gm382	UTSW	X	125,970,274 (GRCm39)	missense	possibly damaging	0.81
R4391:Gm382	UTSW	X	125,968,942 (GRCm39)	missense	probably benign	0.08
X0026:Gm382	UTSW	X	125,969,770 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02