Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01975:Gm10272'

182623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10272

Ensembl Gene

ENSMUSG00000069584

Gene Name

predicted gene 10272

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL01975

Quality Score

Status

Chromosome

Chromosomal Location

77542460-77542809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77542608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 50 (C50Y)

Ref Sequence

ENSEMBL: ENSMUSP00000090025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371]

AlphaFold

F7CZ33

Predicted Effect

probably benign
Transcript: ENSMUST00000075421

SMART Domains

Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	2.6e-8	PFAM
Pfam:Keratin_B2_2	29	74	9.2e-10	PFAM
low complexity region	92	105	N/A	INTRINSIC

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 damaging
Transcript: ENSMUST00000092371
AA Change: C50Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584
AA Change: C50Y

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.8e-7	PFAM
Pfam:Keratin_B2_2	40	83	3.7e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,217,396 (GRCm39)	C133Y	probably damaging	Het
Akap3	G	T	6: 126,850,963 (GRCm39)	S827I	probably damaging	Het
Arhgap20	C	T	9: 51,761,097 (GRCm39)	Q947*	probably null	Het
Csf2rb2	A	G	15: 78,173,086 (GRCm39)	I258T	probably benign	Het
Egln2	T	C	7: 26,859,745 (GRCm39)	I323V	possibly damaging	Het
Erlin1	C	A	19: 44,025,370 (GRCm39)	G348V	probably damaging	Het
Fbxo38	C	T	18: 62,648,484 (GRCm39)	A685T	probably damaging	Het
Gm11559	G	T	11: 99,755,682 (GRCm39)	Q110H	unknown	Het
Gpr75	T	C	11: 30,841,835 (GRCm39)	S247P	probably benign	Het
Grid1	A	T	14: 35,045,383 (GRCm39)	M409L	probably benign	Het
Herc3	A	C	6: 58,893,561 (GRCm39)	D941A	possibly damaging	Het
Ilf3	T	A	9: 21,303,675 (GRCm39)	S166T	probably benign	Het
Kcnu1	A	C	8: 26,424,525 (GRCm39)	E273D	probably benign	Het
Kdm8	A	G	7: 125,051,529 (GRCm39)	S41G	probably benign	Het
Ldlr	G	A	9: 21,644,993 (GRCm39)	V174I	probably benign	Het
Lpar5	T	C	6: 125,058,750 (GRCm39)	L157P	probably damaging	Het
Mcrs1	A	G	15: 99,141,559 (GRCm39)		probably null	Het
Ndst3	T	A	3: 123,395,163 (GRCm39)	Y489F	possibly damaging	Het
Or6c69c	A	G	10: 129,911,139 (GRCm39)	I287V	probably damaging	Het
Palmd	A	T	3: 116,717,283 (GRCm39)	S405T	probably benign	Het
Ptger1	T	C	8: 84,396,149 (GRCm39)		probably benign	Het
Rbp3	A	T	14: 33,680,602 (GRCm39)	K1068M	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf20	T	A	4: 49,654,473 (GRCm39)	D843E	probably benign	Het
Rxfp1	A	G	3: 79,567,385 (GRCm39)	S322P	possibly damaging	Het
Slc22a8	T	A	19: 8,582,775 (GRCm39)	I152N	probably damaging	Het
Slc6a21	T	A	7: 44,937,275 (GRCm39)	D268E	probably benign	Het
Sstr1	A	G	12: 58,260,412 (GRCm39)	N345S	probably benign	Het
Stx17	T	C	4: 48,180,670 (GRCm39)	S172P	probably damaging	Het
Syne1	A	G	10: 5,018,908 (GRCm39)		probably benign	Het
Tpte	A	G	8: 22,839,353 (GRCm39)	T467A	probably damaging	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trav13-2	A	T	14: 53,872,823 (GRCm39)	T100S	possibly damaging	Het
Trip12	A	G	1: 84,792,534 (GRCm39)		probably benign	Het
Wdr36	A	G	18: 32,985,541 (GRCm39)	H486R	probably damaging	Het
Zswim5	T	C	4: 116,822,889 (GRCm39)	I453T	probably benign	Het

Other mutations in Gm10272

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03176:Gm10272	APN	10	77,542,467 (GRCm39)	missense	probably null
R0635:Gm10272	UTSW	10	77,542,535 (GRCm39)	intron	probably benign
R4209:Gm10272	UTSW	10	77,542,665 (GRCm39)	missense	possibly damaging	0.95
R7540:Gm10272	UTSW	10	77,542,460 (GRCm39)	start codon destroyed	unknown
R7887:Gm10272	UTSW	10	77,542,779 (GRCm39)	missense	probably benign	0.06
R8990:Gm10272	UTSW	10	77,542,658 (GRCm39)	missense	probably damaging	0.98
R9687:Gm10272	UTSW	10	77,542,764 (GRCm39)	missense	possibly damaging	0.81

Posted On

2014-05-07