Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02755:H2-M3'

306400

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 #

IGL02755

Quality Score

Status

Chromosome

Chromosomal Location

37581111-37585375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37581913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

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: V123A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: V123A

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	A	11: 11,539,358 (GRCm39)	N189I	unknown	Het
Adamts19	T	A	18: 59,103,005 (GRCm39)	I682K	probably benign	Het
Adra1a	G	A	14: 66,965,110 (GRCm39)	V367I	probably benign	Het
Alpk3	A	G	7: 80,743,507 (GRCm39)	E1108G	possibly damaging	Het
Ccdc186	A	T	19: 56,801,828 (GRCm39)	N96K	probably benign	Het
Ccnb1	A	G	13: 100,918,168 (GRCm39)	Y160H	possibly damaging	Het
Cebpz	A	T	17: 79,238,759 (GRCm39)	V683E	probably damaging	Het
Cep104	A	G	4: 154,081,416 (GRCm39)	H786R	possibly damaging	Het
Chd9	T	C	8: 91,760,210 (GRCm39)	I1985T	probably benign	Het
Cntn2	T	A	1: 132,457,040 (GRCm39)	T36S	probably benign	Het
Cntnap5c	T	C	17: 58,671,189 (GRCm39)	S1126P	probably benign	Het
Cpt2	A	T	4: 107,764,972 (GRCm39)	V264E	probably damaging	Het
Degs2	T	C	12: 108,658,842 (GRCm39)	T46A	probably benign	Het
Dip2c	T	C	13: 9,600,356 (GRCm39)		probably null	Het
Dnaaf1	A	G	8: 120,317,410 (GRCm39)	D313G	probably damaging	Het
Ephb3	T	G	16: 21,040,448 (GRCm39)	D561E	probably damaging	Het
Eps15	A	G	4: 109,186,895 (GRCm39)	T321A	probably benign	Het
Ercc6	A	G	14: 32,297,705 (GRCm39)		probably benign	Het
Gcn1	T	A	5: 115,742,065 (GRCm39)		probably null	Het
Gm28177	G	A	1: 52,136,031 (GRCm39)		probably benign	Het
Gucy2g	C	A	19: 55,198,786 (GRCm39)	V786F	probably benign	Het
Hmgxb3	T	C	18: 61,305,260 (GRCm39)	K33E	probably damaging	Het
Ift22	T	C	5: 136,940,640 (GRCm39)	W102R	probably damaging	Het
Lgi4	T	C	7: 30,762,530 (GRCm39)	F44L	probably damaging	Het
Lingo3	T	C	10: 80,671,843 (GRCm39)	E29G	possibly damaging	Het
Nf2	A	G	11: 4,768,542 (GRCm39)	L109P	probably damaging	Het
Ntrk3	T	C	7: 78,110,187 (GRCm39)	H349R	probably benign	Het
Or6c8	T	A	10: 128,915,065 (GRCm39)	M256L	probably benign	Het
Otub1	T	A	19: 7,183,624 (GRCm39)	M1L	probably benign	Het
Pkp3	A	G	7: 140,668,318 (GRCm39)		probably null	Het
Popdc3	C	A	10: 45,191,314 (GRCm39)	H142N	probably damaging	Het
Pot1a	A	G	6: 25,771,612 (GRCm39)	F203S	possibly damaging	Het
Prdx5	A	G	19: 6,886,963 (GRCm39)	V8A	probably benign	Het
Rabgap1	T	C	2: 37,427,326 (GRCm39)	Y636H	probably damaging	Het
Rad51d	A	T	11: 82,772,458 (GRCm39)	I236N	probably benign	Het
Reep3	G	T	10: 66,857,656 (GRCm39)	T145K	possibly damaging	Het
Samd3	G	T	10: 26,120,475 (GRCm39)	L156F	probably damaging	Het
Sh3bp5l	A	G	11: 58,228,829 (GRCm39)	T101A	probably benign	Het
Slc3a1	T	C	17: 85,344,605 (GRCm39)	V257A	probably damaging	Het
Sptbn1	A	G	11: 30,092,247 (GRCm39)	V506A	probably damaging	Het
Stab1	A	T	14: 30,861,595 (GRCm39)	S2471T	probably benign	Het
Vmn2r85	T	C	10: 130,261,381 (GRCm39)	T319A	probably damaging	Het
Vmn2r94	C	T	17: 18,464,761 (GRCm39)	V510I	probably benign	Het
Wscd2	T	A	5: 113,712,092 (GRCm39)	M337K	possibly damaging	Het
Zfp866	A	G	8: 70,219,290 (GRCm39)		probably null	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
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
IGL03177:H2-M3	APN	17	37,581,207 (GRCm39)	missense	possibly damaging	0.86
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

2015-04-16