Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01878:H2-M10.5'

178942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M10.5

Ensembl Gene

ENSMUSG00000037246

Gene Name

histocompatibility 2, M region locus 10.5

Synonyms

6.9H

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01878

Quality Score

Status

Chromosome

Chromosomal Location

37083802-37087126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37084708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 144 (Y144C)

Ref Sequence

ENSEMBL: ENSMUSP00000047766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041531]

AlphaFold

Q85ZW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041531
AA Change: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047766
Gene: ENSMUSG00000037246
AA Change: Y144C

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	8.6e-44	PFAM
IGc1	221	292	5.56e-20	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox8	G	T	11: 69,087,864 (GRCm39)	Q147K	probably benign	Het
Ankib1	T	A	5: 3,784,152 (GRCm39)	M275L	possibly damaging	Het
Asb2	G	A	12: 103,287,922 (GRCm39)	P546S	possibly damaging	Het
B9d1	T	C	11: 61,398,449 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,557,257 (GRCm39)	D1957G	possibly damaging	Het
Cryzl2	T	C	1: 157,299,970 (GRCm39)	V44A	possibly damaging	Het
Fbxw19	A	C	9: 109,312,347 (GRCm39)		probably benign	Het
Gabrb3	T	C	7: 57,466,163 (GRCm39)	F326L	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11168	T	C	9: 3,005,204 (GRCm39)	C16R	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm7808	T	A	9: 19,839,542 (GRCm39)		probably benign	Het
Gpam	T	C	19: 55,071,806 (GRCm39)	I312V	probably benign	Het
Hivep3	T	C	4: 119,952,424 (GRCm39)	S247P	possibly damaging	Het
Hs3st4	T	G	7: 123,996,536 (GRCm39)	C401G	probably damaging	Het
Klhl2	A	G	8: 65,212,858 (GRCm39)	V227A	probably damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Lipm	T	A	19: 34,093,911 (GRCm39)	L276Q	possibly damaging	Het
Lmf2	T	A	15: 89,236,621 (GRCm39)	H515L	probably damaging	Het
Mccc1	G	A	3: 36,030,041 (GRCm39)	S423L	probably damaging	Het
Mettl21e	G	A	1: 44,250,193 (GRCm39)	S71L	probably null	Het
Muc16	T	A	9: 18,406,839 (GRCm39)	H251L	possibly damaging	Het
Neb	T	C	2: 52,059,852 (GRCm39)		probably benign	Het
Ntf5	T	C	7: 45,065,450 (GRCm39)	I194T	probably damaging	Het
Or10ag58	T	C	2: 87,265,314 (GRCm39)	I161T	possibly damaging	Het
Or1o4	A	G	17: 37,590,891 (GRCm39)	V140A	possibly damaging	Het
Or2w6	T	C	13: 21,842,953 (GRCm39)	D180G	possibly damaging	Het
Or4x11	T	C	2: 89,867,478 (GRCm39)	S72P	probably damaging	Het
Or9m1	A	T	2: 87,733,675 (GRCm39)	L115*	probably null	Het
Pigv	T	C	4: 133,392,428 (GRCm39)	I247M	probably benign	Het
Pik3r5	A	G	11: 68,383,356 (GRCm39)	N392D	probably benign	Het
Postn	A	G	3: 54,290,901 (GRCm39)		probably null	Het
Prl2c5	G	A	13: 13,360,402 (GRCm39)	S23N	probably benign	Het
Prpf40b	T	C	15: 99,204,413 (GRCm39)	C220R	possibly damaging	Het
Pzp	A	G	6: 128,472,261 (GRCm39)	S843P	probably damaging	Het
Rpl23	C	A	11: 97,669,177 (GRCm39)	R85L	probably benign	Het
Shcbp1	A	G	8: 4,799,721 (GRCm39)	S252P	probably damaging	Het
Slc26a7	C	T	4: 14,519,388 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,063,571 (GRCm39)	E2285G	probably damaging	Het
Telo2	G	T	17: 25,320,332 (GRCm39)	T784K	probably benign	Het
Tnfrsf19	C	T	14: 61,234,093 (GRCm39)	V136M	probably damaging	Het
Trpm5	T	A	7: 142,628,234 (GRCm39)	I22F	probably damaging	Het
Trpv6	G	T	6: 41,603,801 (GRCm39)		probably benign	Het
Vmn1r173	T	G	7: 23,401,877 (GRCm39)	H37Q	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo6	T	A	7: 125,773,365 (GRCm39)	H20L	probably benign	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	Het

Other mutations in H2-M10.5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:H2-M10.5	APN	17	37,084,227 (GRCm39)	missense	possibly damaging	0.86
IGL01562:H2-M10.5	APN	17	37,084,668 (GRCm39)	missense	possibly damaging	0.53
IGL03271:H2-M10.5	APN	17	37,084,243 (GRCm39)	missense	possibly damaging	0.86
IGL03377:H2-M10.5	APN	17	37,084,377 (GRCm39)	missense	probably benign	0.11
R0555:H2-M10.5	UTSW	17	37,085,620 (GRCm39)	missense	probably damaging	1.00
R1556:H2-M10.5	UTSW	17	37,084,205 (GRCm39)	missense	probably damaging	1.00
R1815:H2-M10.5	UTSW	17	37,084,836 (GRCm39)	missense	probably damaging	1.00
R1913:H2-M10.5	UTSW	17	37,085,660 (GRCm39)	missense	probably damaging	1.00
R2420:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2421:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2422:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R5668:H2-M10.5	UTSW	17	37,085,473 (GRCm39)	missense	probably damaging	0.99
R7694:H2-M10.5	UTSW	17	37,084,641 (GRCm39)	missense	probably damaging	1.00
R8390:H2-M10.5	UTSW	17	37,085,487 (GRCm39)	missense	probably benign	0.10
R8441:H2-M10.5	UTSW	17	37,084,199 (GRCm39)	missense	probably benign	0.14
R8497:H2-M10.5	UTSW	17	37,084,729 (GRCm39)	missense	probably damaging	1.00
R8960:H2-M10.5	UTSW	17	37,084,770 (GRCm39)	missense	probably benign	0.23
R9016:H2-M10.5	UTSW	17	37,084,226 (GRCm39)	missense	possibly damaging	0.86

Posted On

2014-05-07