Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03263:H2-M11'

414947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M11

Ensembl Gene

ENSMUSG00000037537

Gene Name

histocompatibility 2, M region locus 11

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03263

Quality Score

Status

Chromosome

Chromosomal Location

36857967-36860142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36859805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 266 (Q266L)

Ref Sequence

ENSEMBL: ENSMUSP00000042522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041964]

AlphaFold

F6U8V3

Predicted Effect

probably damaging
Transcript: ENSMUST00000041964
AA Change: Q266L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: Q266L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	203	2.8e-44	PFAM
IGc1	222	293	1.91e-18	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173968

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
1700123K08Rik	T	A	5: 138,562,499 (GRCm39)	I81F	probably damaging	Het
Acacb	C	T	5: 114,351,754 (GRCm39)	H1164Y	probably damaging	Het
Adamts5	A	T	16: 85,666,830 (GRCm39)	V554E	probably damaging	Het
Asns	G	A	6: 7,689,404 (GRCm39)	R33C	probably benign	Het
BC051076	T	G	5: 88,111,977 (GRCm39)		noncoding transcript	Het
Bcas3	C	T	11: 85,712,948 (GRCm39)		probably benign	Het
Bpifb1	A	G	2: 154,057,226 (GRCm39)	M395V	probably benign	Het
Cdcp1	C	A	9: 123,009,152 (GRCm39)	V509L	probably benign	Het
Cdhr2	A	G	13: 54,865,926 (GRCm39)	T277A	possibly damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clca4a	T	A	3: 144,672,192 (GRCm39)	E250V	probably damaging	Het
Cplx4	T	C	18: 66,100,559 (GRCm39)	D79G	probably benign	Het
Dcaf11	A	G	14: 55,802,949 (GRCm39)	D246G	probably damaging	Het
Dnah2	A	T	11: 69,420,207 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,807,330 (GRCm39)		probably benign	Het
Fam170a	T	C	18: 50,413,588 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,782,149 (GRCm39)	M423L	probably benign	Het
Gabra2	A	G	5: 71,130,836 (GRCm39)	F331L	probably damaging	Het
Galnt18	C	T	7: 111,119,321 (GRCm39)	R400Q	probably damaging	Het
Igf2bp1	A	T	11: 95,857,499 (GRCm39)	V502D	probably damaging	Het
Ik	A	G	18: 36,881,699 (GRCm39)	N111S	probably damaging	Het
Intu	T	A	3: 40,627,027 (GRCm39)	Y269*	probably null	Het
Krt82	T	C	15: 101,450,307 (GRCm39)	Y463C	probably benign	Het
Lrig1	A	G	6: 94,588,628 (GRCm39)	M507T	probably benign	Het
Lrrc37	A	G	11: 103,504,525 (GRCm39)	V2481A	possibly damaging	Het
Mag	T	G	7: 30,598,953 (GRCm39)		probably null	Het
Map7	T	A	10: 20,121,068 (GRCm39)	Y121*	probably null	Het
Marchf6	A	G	15: 31,486,508 (GRCm39)	I349T	probably benign	Het
Mas1	A	G	17: 13,060,451 (GRCm39)	V324A	possibly damaging	Het
Nckap1l	T	C	15: 103,372,832 (GRCm39)	W259R	probably damaging	Het
Nhsl1	T	A	10: 18,373,827 (GRCm39)	Y164*	probably null	Het
Or52e5	T	A	7: 104,719,209 (GRCm39)	H178Q	probably damaging	Het
Or8b38	A	T	9: 37,973,009 (GRCm39)	Y131F	probably damaging	Het
Pcdhb2	A	G	18: 37,429,059 (GRCm39)	D344G	probably damaging	Het
Pclo	T	C	5: 14,731,824 (GRCm39)	V3442A	unknown	Het
Polr3c	C	T	3: 96,621,567 (GRCm39)		probably benign	Het
Ppp2r2d	C	T	7: 138,474,651 (GRCm39)	R11*	probably null	Het
Ptgfr	T	A	3: 151,541,500 (GRCm39)	M3L	probably benign	Het
Rfx6	A	G	10: 51,601,903 (GRCm39)	S741G	probably benign	Het
Rif1	T	C	2: 51,980,273 (GRCm39)	V490A	probably damaging	Het
Samd7	T	A	3: 30,816,302 (GRCm39)	H349Q	probably damaging	Het
Sh3pxd2a	T	C	19: 47,302,482 (GRCm39)	N199S	probably damaging	Het
Spef2	T	A	15: 9,667,305 (GRCm39)	K794N	possibly damaging	Het
Spta1	C	T	1: 174,041,484 (GRCm39)	A1316V	probably damaging	Het
Vwa7	A	G	17: 35,240,575 (GRCm39)	E410G	probably benign	Het
Washc2	T	A	6: 116,215,084 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,064,711 (GRCm39)	Y581S	probably damaging	Het
Zdhhc17	T	C	10: 110,796,877 (GRCm39)	D298G	probably damaging	Het

Other mutations in H2-M11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:H2-M11	APN	17	36,858,445 (GRCm39)	missense	probably benign	0.00
IGL01657:H2-M11	APN	17	36,858,465 (GRCm39)	missense	probably benign	0.00
IGL02249:H2-M11	APN	17	36,858,829 (GRCm39)	missense	probably benign	0.39
R0481:H2-M11	UTSW	17	36,859,846 (GRCm39)	nonsense	probably null
R0639:H2-M11	UTSW	17	36,858,283 (GRCm39)	missense	probably benign	0.00
R0866:H2-M11	UTSW	17	36,859,829 (GRCm39)	missense	probably benign	0.00
R0924:H2-M11	UTSW	17	36,860,106 (GRCm39)	missense	probably benign
R0925:H2-M11	UTSW	17	36,858,353 (GRCm39)	missense	probably benign	0.00
R1707:H2-M11	UTSW	17	36,859,658 (GRCm39)	missense	probably damaging	1.00
R2212:H2-M11	UTSW	17	36,859,822 (GRCm39)	missense	probably damaging	1.00
R2566:H2-M11	UTSW	17	36,859,042 (GRCm39)	missense	possibly damaging	0.76
R2567:H2-M11	UTSW	17	36,859,042 (GRCm39)	missense	possibly damaging	0.76
R3029:H2-M11	UTSW	17	36,859,042 (GRCm39)	missense	possibly damaging	0.76
R3030:H2-M11	UTSW	17	36,859,042 (GRCm39)	missense	possibly damaging	0.76
R3893:H2-M11	UTSW	17	36,857,982 (GRCm39)	missense	probably benign	0.01
R3946:H2-M11	UTSW	17	36,860,123 (GRCm39)	missense	probably damaging	1.00
R4647:H2-M11	UTSW	17	36,858,883 (GRCm39)	missense	probably benign	0.06
R4679:H2-M11	UTSW	17	36,859,042 (GRCm39)	missense	possibly damaging	0.76
R4868:H2-M11	UTSW	17	36,859,811 (GRCm39)	missense	probably damaging	1.00
R4876:H2-M11	UTSW	17	36,858,401 (GRCm39)	missense	probably benign	0.09
R5496:H2-M11	UTSW	17	36,858,871 (GRCm39)	missense	possibly damaging	0.73
R6514:H2-M11	UTSW	17	36,859,839 (GRCm39)	missense	probably damaging	1.00
R7779:H2-M11	UTSW	17	36,859,698 (GRCm39)	missense	probably benign	0.14
R8072:H2-M11	UTSW	17	36,859,026 (GRCm39)	missense	probably benign	0.13
R8210:H2-M11	UTSW	17	36,858,860 (GRCm39)	missense	probably damaging	0.98
R8249:H2-M11	UTSW	17	36,859,900 (GRCm39)	missense	probably damaging	1.00
R8425:H2-M11	UTSW	17	36,859,649 (GRCm39)	missense	probably benign	0.00
R8466:H2-M11	UTSW	17	36,858,985 (GRCm39)	missense	probably benign	0.35
R8906:H2-M11	UTSW	17	36,859,851 (GRCm39)	nonsense	probably null
R9688:H2-M11	UTSW	17	36,859,054 (GRCm39)	missense	probably damaging	1.00
Z1176:H2-M11	UTSW	17	36,859,662 (GRCm39)	missense	possibly damaging	0.81

Posted On

2016-08-02