Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03177:H2-M3'

412028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M3

Ensembl Gene

ENSMUSG00000016206

Gene Name

histocompatibility 2, M region locus 3

Synonyms

H-2M3, Hmt, R4B2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03177

Quality Score

Status

Chromosome

Chromosomal Location

37581111-37585375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37581207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 19 (V19F)

Ref Sequence

ENSEMBL: ENSMUSP00000035687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038580]

AlphaFold

Q31093

PDB Structure

MODEL OF MHC CLASS I H2-M3 WITH NONAPEPTIDE FROM RAT ND1 REFINED AT 2.3 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038580
AA Change: V19F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: V19F

Domain	Start	End	E-Value	Type
Pfam:MHC_I	25	203	6.6e-76	PFAM
IGc1	222	293	4.91e-21	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122476

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	T	C	X: 159,221,259 (GRCm39)	I23T	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anxa7	T	C	14: 20,506,654 (GRCm39)	I451V	probably benign	Het
Capn10	T	C	1: 92,862,704 (GRCm39)	F37L	probably benign	Het
Cyp4f13	A	G	17: 33,165,888 (GRCm39)	I30T	possibly damaging	Het
Ddx27	A	G	2: 166,869,840 (GRCm39)	N392D	possibly damaging	Het
Dhx30	T	C	9: 109,917,078 (GRCm39)	H479R	possibly damaging	Het
Dnah5	A	G	15: 28,295,545 (GRCm39)	Y1426C	probably damaging	Het
Dnajc2	A	G	5: 21,980,079 (GRCm39)		probably benign	Het
Fbxw8	C	A	5: 118,267,045 (GRCm39)		probably benign	Het
Grik5	G	A	7: 24,714,879 (GRCm39)	T705I	probably damaging	Het
H2ac4	T	A	13: 23,935,509 (GRCm39)		probably benign	Het
Hapln2	C	A	3: 87,930,078 (GRCm39)	C266F	probably damaging	Het
Hspbp1	A	T	7: 4,667,700 (GRCm39)		probably null	Het
Jak3	T	A	8: 72,135,014 (GRCm39)	V549D	probably damaging	Het
Mark1	A	G	1: 184,677,104 (GRCm39)	S49P	probably damaging	Het
Mdfic	T	C	6: 15,770,450 (GRCm39)	V152A	probably damaging	Het
Mgat4a	C	A	1: 37,483,968 (GRCm39)	V501L	probably damaging	Het
Mlxip	C	A	5: 123,584,044 (GRCm39)	P536T	possibly damaging	Het
Mrpl2	A	T	17: 46,959,963 (GRCm39)	T213S	probably damaging	Het
Nos1ap	C	A	1: 170,218,299 (GRCm39)		probably null	Het
Or4a74	C	T	2: 89,439,826 (GRCm39)	V207I	probably benign	Het
Or6c1b	T	C	10: 129,272,684 (GRCm39)	M1T	probably null	Het
Or8b50	T	A	9: 38,517,867 (GRCm39)	Y35*	probably null	Het
P2rx2	T	C	5: 110,489,479 (GRCm39)	I251V	probably damaging	Het
Parva	T	A	7: 112,172,140 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,166,493 (GRCm39)	T459I	probably damaging	Het
Prg4	T	A	1: 150,331,354 (GRCm39)		probably benign	Het
Pum3	A	T	19: 27,367,612 (GRCm39)	I639N	probably benign	Het
Rlf	T	A	4: 121,005,276 (GRCm39)	K1235*	probably null	Het
Ryr3	T	A	2: 112,859,016 (GRCm39)	I46F	probably benign	Het
Sall3	A	G	18: 81,016,183 (GRCm39)	S582P	probably benign	Het
Scn3b	A	C	9: 40,181,338 (GRCm39)	Y17S	probably benign	Het
Senp8	A	G	9: 59,644,611 (GRCm39)	C169R	probably damaging	Het
Sgsm1	C	T	5: 113,398,859 (GRCm39)	A1025T	probably damaging	Het
Six1	T	C	12: 73,090,514 (GRCm39)	E217G	possibly damaging	Het
Slc38a8	T	C	8: 120,212,251 (GRCm39)	D364G	probably damaging	Het
Stk10	A	T	11: 32,564,592 (GRCm39)	E801V	probably damaging	Het
Ston2	A	T	12: 91,614,431 (GRCm39)	I659N	probably damaging	Het
Stxbp4	T	C	11: 90,462,579 (GRCm39)	Q331R	probably benign	Het
Synpo2	A	T	3: 122,914,864 (GRCm39)	V54E	probably damaging	Het
Tax1bp1	A	G	6: 52,713,932 (GRCm39)	D237G	possibly damaging	Het
Tmigd1	T	C	11: 76,797,774 (GRCm39)	Y39H	probably benign	Het
Vmn1r15	A	G	6: 57,235,458 (GRCm39)	T109A	probably benign	Het
Vmn1r209	T	C	13: 22,990,024 (GRCm39)	Y222C	possibly damaging	Het
Zfp809	A	G	9: 22,146,347 (GRCm39)	D12G	probably damaging	Het

Other mutations in H2-M3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:H2-M3	APN	17	37,581,548 (GRCm39)	missense	possibly damaging	0.89
IGL01891:H2-M3	APN	17	37,583,608 (GRCm39)	missense	probably benign	0.23
IGL02689:H2-M3	APN	17	37,581,432 (GRCm39)	nonsense	probably null
IGL02755:H2-M3	APN	17	37,581,913 (GRCm39)	missense	possibly damaging	0.81
IGL02994:H2-M3	APN	17	37,581,629 (GRCm39)	missense	probably benign
IGL03135:H2-M3	APN	17	37,583,324 (GRCm39)	missense	possibly damaging	0.90
R1328:H2-M3	UTSW	17	37,581,925 (GRCm39)	missense	possibly damaging	0.71
R1632:H2-M3	UTSW	17	37,582,054 (GRCm39)	missense	probably benign	0.01
R1919:H2-M3	UTSW	17	37,582,080 (GRCm39)	missense	possibly damaging	0.67
R3981:H2-M3	UTSW	17	37,582,021 (GRCm39)	missense	probably damaging	0.97
R4304:H2-M3	UTSW	17	37,583,295 (GRCm39)	missense	probably benign	0.07
R4620:H2-M3	UTSW	17	37,583,310 (GRCm39)	missense	probably damaging	0.97
R5765:H2-M3	UTSW	17	37,583,334 (GRCm39)	missense	probably damaging	0.97
R7262:H2-M3	UTSW	17	37,582,084 (GRCm39)	missense	probably damaging	1.00
R7437:H2-M3	UTSW	17	37,583,569 (GRCm39)	missense	probably benign	0.23
R7585:H2-M3	UTSW	17	37,581,599 (GRCm39)	missense	probably damaging	1.00
R7645:H2-M3	UTSW	17	37,581,620 (GRCm39)	missense	probably damaging	0.99
R9181:H2-M3	UTSW	17	37,583,172 (GRCm39)	missense	probably damaging	0.99
R9471:H2-M3	UTSW	17	37,581,988 (GRCm39)	missense	probably damaging	0.98
R9608:H2-M3	UTSW	17	37,581,159 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02