Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02489:Gm10100'

295535

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10100

Ensembl Gene

ENSMUSG00000096421

Gene Name

predicted gene 10100

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02489

Quality Score

Status

Chromosome

Chromosomal Location

77562320-77562682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77562645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 109 (C109Y)

Ref Sequence

ENSEMBL: ENSMUSP00000137358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000179726]

AlphaFold

J3QK64

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179726
AA Change: C109Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137358
Gene: ENSMUSG00000096421
AA Change: C109Y

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	7.9e-8	PFAM
Pfam:Keratin_B2_2	29	74	2e-9	PFAM
Pfam:Keratin_B2_2	49	103	9.9e-6	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,847 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,480,746 (GRCm39)	T430A	possibly damaging	Het
Ankrd6	T	C	4: 32,810,298 (GRCm39)	D426G	probably damaging	Het
Arhgef37	A	G	18: 61,639,540 (GRCm39)	S280P	possibly damaging	Het
Bicd1	T	C	6: 149,414,535 (GRCm39)	L416P	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpp	T	C	13: 49,803,594 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,431,971 (GRCm39)		probably null	Het
Ctsa	A	G	2: 164,680,565 (GRCm39)	Y402C	probably damaging	Het
Dnah7a	A	G	1: 53,686,481 (GRCm39)	V223A	possibly damaging	Het
Dnajb3	G	T	1: 88,133,032 (GRCm39)	N123K	probably benign	Het
Fhad1	G	T	4: 141,684,931 (GRCm39)	N469K	probably damaging	Het
Fmo3	G	T	1: 162,781,856 (GRCm39)	T499K	possibly damaging	Het
Lrrc27	G	T	7: 138,805,977 (GRCm39)	R214L	probably benign	Het
Mc5r	T	A	18: 68,472,597 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	C	5: 63,962,570 (GRCm39)	Y718S	probably damaging	Het
Or8h7	T	G	2: 86,721,339 (GRCm39)	Y60S	probably damaging	Het
Ppa1	T	A	10: 61,501,223 (GRCm39)	D163E	probably damaging	Het
Ptprk	G	T	10: 28,259,468 (GRCm39)	G303W	probably damaging	Het
Rnf182	T	C	13: 43,821,779 (GRCm39)	L110P	probably damaging	Het
Slc12a2	T	C	18: 58,045,074 (GRCm39)	F659S	probably damaging	Het
Slc5a3	T	A	16: 91,874,593 (GRCm39)	Y217N	possibly damaging	Het
Ttc41	G	T	10: 86,596,778 (GRCm39)	E1008*	probably null	Het
Unc80	T	C	1: 66,564,860 (GRCm39)	M849T	probably benign	Het
Vmn2r76	A	T	7: 85,878,071 (GRCm39)	I442N	probably benign	Het

Other mutations in Gm10100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4557:Gm10100	UTSW	10	77,562,365 (GRCm39)	intron	probably benign
R5388:Gm10100	UTSW	10	77,562,560 (GRCm39)	missense	probably benign	0.07
R6225:Gm10100	UTSW	10	77,562,498 (GRCm39)	missense	possibly damaging	0.86
R6259:Gm10100	UTSW	10	77,562,498 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16