Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02994:H2-M3'

407067

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

37270220-37274484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37270738 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 97 (S97N)

Ref Sequence

ENSEMBL: ENSMUSP00000035687 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000038580
AA Change: S97N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: S97N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	T	A	9: 104,309,403		probably benign	Het
Ahnak2	A	G	12: 112,786,207	V137A	probably damaging	Het
Alk	G	T	17: 71,949,820	F681L	probably benign	Het
Ankrd35	T	C	3: 96,682,991		probably benign	Het
Aqp3	A	T	4: 41,093,614	C267S	probably benign	Het
Arl13b	T	A	16: 62,812,003	I76F	probably damaging	Het
Cdc42bpa	G	T	1: 179,999,437	R85L	probably damaging	Het
Ctgf	T	A	10: 24,596,865	N224K	probably damaging	Het
Dock4	T	G	12: 40,779,160	I1015R	probably damaging	Het
Dst	A	G	1: 34,229,252		probably benign	Het
Egfr	T	C	11: 16,911,811	Y1197H	probably damaging	Het
Endod1	A	G	9: 14,356,887	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,553,138		probably benign	Het
Fgg	G	T	3: 83,008,474	R74L	probably benign	Het
Fmo2	A	T	1: 162,880,620	D315E	probably damaging	Het
H2afy	T	C	13: 56,104,299		probably benign	Het
Ighv14-2	T	A	12: 113,994,591	T77S	probably benign	Het
Klhl9	A	T	4: 88,721,197	L269*	probably null	Het
Lin37	G	A	7: 30,557,160	R84W	probably damaging	Het
Mkln1	T	C	6: 31,490,443	S31P	probably damaging	Het
Nacad	A	G	11: 6,599,528	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,556,227	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,452,416	I161T	probably damaging	Het
Nsg1	A	G	5: 38,155,602		probably benign	Het
Rsbn1l	G	T	5: 20,908,234	T430K	probably damaging	Het
Serpina6	A	G	12: 103,653,951	S180P	probably benign	Het
Slc4a5	T	C	6: 83,272,124	L570P	probably damaging	Het
Tank	A	G	2: 61,650,292		probably benign	Het
Tpd52	A	G	3: 8,947,530	F76L	probably benign	Het
Ubox5	A	C	2: 130,600,317	L150R	probably benign	Het
Zfp710	T	C	7: 80,081,833	S253P	probably benign	Het

Other mutations in H2-M3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:H2-M3	APN	17	37270657	missense	possibly damaging	0.89
IGL01891:H2-M3	APN	17	37272717	missense	probably benign	0.23
IGL02689:H2-M3	APN	17	37270541	nonsense	probably null
IGL02755:H2-M3	APN	17	37271022	missense	possibly damaging	0.81
IGL03135:H2-M3	APN	17	37272433	missense	possibly damaging	0.90
IGL03177:H2-M3	APN	17	37270316	missense	possibly damaging	0.86
R1328:H2-M3	UTSW	17	37271034	missense	possibly damaging	0.71
R1632:H2-M3	UTSW	17	37271163	missense	probably benign	0.01
R1919:H2-M3	UTSW	17	37271189	missense	possibly damaging	0.67
R3981:H2-M3	UTSW	17	37271130	missense	probably damaging	0.97
R4304:H2-M3	UTSW	17	37272404	missense	probably benign	0.07
R4620:H2-M3	UTSW	17	37272419	missense	probably damaging	0.97
R5765:H2-M3	UTSW	17	37272443	missense	probably damaging	0.97
R7262:H2-M3	UTSW	17	37271193	missense	probably damaging	1.00
R7437:H2-M3	UTSW	17	37272678	missense	probably benign	0.23
R7585:H2-M3	UTSW	17	37270708	missense	probably damaging	1.00
R7645:H2-M3	UTSW	17	37270729	missense	probably damaging	0.99

Posted On

2016-08-02