Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00771:H2-M10.2'

11196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M10.2

Ensembl Gene

ENSMUSG00000023083

Gene Name

histocompatibility 2, M region locus 10.2

Synonyms

4.7H

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL00771

Quality Score

Status

Chromosome

Chromosomal Location

36595173-36597313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36597288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 9 (L9P)

Ref Sequence

ENSEMBL: ENSMUSP00000023845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023845]

AlphaFold

Q85ZW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023845
AA Change: L9P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023845
Gene: ENSMUSG00000023083
AA Change: L9P

Domain	Start	End	E-Value	Type
Pfam:MHC_I	23	201	6.5e-50	PFAM
IGc1	220	291	1.32e-21	SMART
transmembrane domain	304	326	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	G	17: 48,452,855 (GRCm39)	L28S	possibly damaging	Het
Abca13	T	A	11: 9,240,870 (GRCm39)	L911Q	probably damaging	Het
Armc9	C	A	1: 86,127,557 (GRCm39)		probably null	Het
Asxl2	A	G	12: 3,524,560 (GRCm39)	H196R	probably damaging	Het
Atm	T	C	9: 53,404,354 (GRCm39)	D1329G	probably benign	Het
Cds2	T	C	2: 132,146,272 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,233,861 (GRCm39)	C2184S	probably damaging	Het
Cpeb2	T	C	5: 43,394,890 (GRCm39)	F623L	possibly damaging	Het
Dmd	G	A	X: 82,951,978 (GRCm39)		probably null	Het
F11r	T	A	1: 171,290,510 (GRCm39)		probably null	Het
Gbp3	C	T	3: 142,271,005 (GRCm39)		probably benign	Het
Gpc4	A	G	X: 51,163,527 (GRCm39)	S119P	possibly damaging	Het
Ica1l	T	C	1: 60,053,106 (GRCm39)	D144G	probably damaging	Het
Jaml	A	G	9: 45,005,105 (GRCm39)	K124E	possibly damaging	Het
Lamc2	T	C	1: 153,005,802 (GRCm39)	N950S	probably benign	Het
Ltbp1	A	T	17: 75,669,511 (GRCm39)	D1099V	probably damaging	Het
Mlxipl	C	T	5: 135,161,632 (GRCm39)	T517I	probably damaging	Het
Nbeal1	C	T	1: 60,274,512 (GRCm39)	R308C	probably benign	Het
Nlrp1a	A	T	11: 71,013,567 (GRCm39)	L561*	probably null	Het
Prom1	A	T	5: 44,187,118 (GRCm39)		probably benign	Het
Ptprc	T	A	1: 138,041,415 (GRCm39)	E148V	probably benign	Het
Rap1gap	T	C	4: 137,443,835 (GRCm39)	V224A	probably damaging	Het
Slc7a6	T	C	8: 106,905,872 (GRCm39)	S35P	probably benign	Het
Snx17	C	T	5: 31,354,679 (GRCm39)	R314C	probably damaging	Het
Spats2l	T	C	1: 57,982,231 (GRCm39)	L371P	probably damaging	Het
Spsb1	C	T	4: 149,991,564 (GRCm39)	M1I	probably null	Het
Sv2a	G	A	3: 96,100,600 (GRCm39)	V661I	probably benign	Het
Taar7b	T	A	10: 23,876,096 (GRCm39)	V87E	probably benign	Het
Tcf7l2	G	A	19: 55,905,853 (GRCm39)	V292I	probably damaging	Het
Teddm1b	T	A	1: 153,750,340 (GRCm39)	C50S	possibly damaging	Het
Trmt10a	A	G	3: 137,856,216 (GRCm39)	D159G	probably benign	Het
Urod	T	C	4: 116,847,581 (GRCm39)	N336S	probably damaging	Het
Usp8	A	G	2: 126,567,353 (GRCm39)		probably null	Het
Zfp182	A	G	X: 20,896,896 (GRCm39)	Y467H	probably damaging	Het

Other mutations in H2-M10.2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:H2-M10.2	APN	17	36,596,377 (GRCm39)	missense	probably damaging	0.96
IGL02347:H2-M10.2	APN	17	36,596,505 (GRCm39)	missense	probably benign	0.00
IGL02884:H2-M10.2	APN	17	36,595,568 (GRCm39)	missense	probably damaging	1.00
IGL03244:H2-M10.2	APN	17	36,596,463 (GRCm39)	missense	probably benign	0.33
R0383:H2-M10.2	UTSW	17	36,595,253 (GRCm39)	missense	probably benign	0.04
R1756:H2-M10.2	UTSW	17	36,597,015 (GRCm39)	splice site	probably benign
R1803:H2-M10.2	UTSW	17	36,596,763 (GRCm39)	missense	probably benign
R2496:H2-M10.2	UTSW	17	36,596,771 (GRCm39)	missense	possibly damaging	0.93
R3816:H2-M10.2	UTSW	17	36,597,254 (GRCm39)	nonsense	probably null
R4597:H2-M10.2	UTSW	17	36,596,285 (GRCm39)	missense	probably benign	0.07
R4832:H2-M10.2	UTSW	17	36,595,219 (GRCm39)	missense	probably damaging	0.99
R5200:H2-M10.2	UTSW	17	36,595,641 (GRCm39)	missense	probably benign	0.17
R5325:H2-M10.2	UTSW	17	36,596,471 (GRCm39)	missense	probably benign	0.00
R7443:H2-M10.2	UTSW	17	36,596,945 (GRCm39)	missense	probably benign
R8064:H2-M10.2	UTSW	17	36,595,442 (GRCm39)	missense	probably damaging	1.00
R8894:H2-M10.2	UTSW	17	36,595,555 (GRCm39)	missense	possibly damaging	0.65
R9420:H2-M10.2	UTSW	17	36,595,643 (GRCm39)	missense	probably benign	0.01
R9489:H2-M10.2	UTSW	17	36,596,936 (GRCm39)	missense	probably benign	0.04

Posted On

2012-12-06