Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:H2-DMa'

186495

Institutional Source

Beutler Lab

Gene Symbol

H2-DMa

Ensembl Gene

ENSMUSG00000037649

Gene Name

histocompatibility 2, class II, locus DMa

Synonyms

H-2Ma, H2-Ma, H2-M alpha

MMRRC Submission

039693-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34338667-34358075 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34356373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042121]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042121

SMART Domains

Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
MHC_II_alpha	42	123	2.83e-19	SMART
IGc1	142	212	5.82e-23	SMART
transmembrane domain	231	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173907

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired antigen presenting cell function, poor IgG responses to T-dependent antigens, reduced numbers of mature CD4+ T cells, and increased susceptibility to Leishmania major infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,910 (GRCm39)	D988E	probably benign	Het
Als2	A	G	1: 59,219,760 (GRCm39)	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,375,029 (GRCm39)	V391A	probably damaging	Het
Armh4	G	C	14: 50,011,017 (GRCm39)	T230S	probably damaging	Het
Caprin1	A	T	2: 103,599,851 (GRCm39)	V608E	probably damaging	Het
Celsr3	T	A	9: 108,720,151 (GRCm39)	C2512*	probably null	Het
Cfl1	A	T	19: 5,543,583 (GRCm39)	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,633,226 (GRCm39)	V42I	probably damaging	Het
Chd2	A	G	7: 73,130,178 (GRCm39)	Y826H	probably damaging	Het
Col9a2	C	A	4: 120,898,171 (GRCm39)	P28T	unknown	Het
Cyp3a44	G	A	5: 145,716,553 (GRCm39)	P346S	probably damaging	Het
Dact2	A	G	17: 14,418,252 (GRCm39)	V151A	probably benign	Het
Dhx29	T	C	13: 113,089,377 (GRCm39)	I716T	probably damaging	Het
Entrep1	C	A	19: 23,952,999 (GRCm39)	C437F	probably damaging	Het
Esam	T	C	9: 37,448,917 (GRCm39)	S342P	probably damaging	Het
Fer1l4	A	G	2: 155,877,518 (GRCm39)	V1053A	possibly damaging	Het
Grk3	A	G	5: 113,114,848 (GRCm39)	F124S	probably damaging	Het
Hsd3b5	T	A	3: 98,527,036 (GRCm39)	I137F	possibly damaging	Het
Itgav	A	T	2: 83,632,123 (GRCm39)	I902F	probably benign	Het
Itsn1	G	T	16: 91,706,111 (GRCm39)	C179F	probably damaging	Het
Kcnh8	G	A	17: 53,146,153 (GRCm39)	R347H	probably damaging	Het
Kif9	T	C	9: 110,319,034 (GRCm39)	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,749,453 (GRCm39)	Q324*	probably null	Het
Lcn9	G	A	2: 25,714,722 (GRCm39)	E154K	probably benign	Het
Mfge8	A	T	7: 78,791,521 (GRCm39)	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,960,525 (GRCm39)	R753*	probably null	Het
Mtif2	G	A	11: 29,490,721 (GRCm39)	R475Q	probably benign	Het
Nln	C	T	13: 104,173,455 (GRCm39)	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,856,050 (GRCm39)	E129G	probably benign	Het
Ocstamp	T	C	2: 165,239,436 (GRCm39)	D250G	probably damaging	Het
Or1a1	A	T	11: 74,086,722 (GRCm39)	H131L	probably damaging	Het
Or52n4b	T	C	7: 108,144,584 (GRCm39)	I284T	possibly damaging	Het
Or8k27	A	C	2: 86,275,562 (GRCm39)	L255V	probably damaging	Het
Pld1	A	T	3: 28,125,336 (GRCm39)	I417L	probably benign	Het
Polr1a	A	T	6: 71,918,519 (GRCm39)	K692N	probably damaging	Het
Qsox2	A	T	2: 26,110,759 (GRCm39)	Y152*	probably null	Het
Rpap1	T	C	2: 119,614,259 (GRCm39)	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,320,085 (GRCm39)	T246A	probably damaging	Het
Scn5a	T	C	9: 119,391,446 (GRCm39)	D82G	probably damaging	Het
Sema3d	A	G	5: 12,634,941 (GRCm39)	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 34,064,209 (GRCm39)	N282S	probably benign	Het
Snap47	A	T	11: 59,319,596 (GRCm39)	S181T	probably benign	Het
Snx9	A	C	17: 5,968,711 (GRCm39)	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Terb1	A	T	8: 105,215,123 (GRCm39)	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,325,292 (GRCm39)	A153V	probably damaging	Het
Trappc2b	T	C	11: 51,576,505 (GRCm39)	Q131R	probably benign	Het
Ttn	T	C	2: 76,573,148 (GRCm39)	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,983,011 (GRCm39)	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,223,070 (GRCm39)	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,771,877 (GRCm39)		probably benign	Het
Zfp184	C	T	13: 22,143,443 (GRCm39)	T383M	probably damaging	Het
Zfp455	T	C	13: 67,346,703 (GRCm39)	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,668,567 (GRCm39)	N478K	probably benign	Het

Other mutations in H2-DMa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03286:H2-DMa	APN	17	34,356,083 (GRCm39)	splice site	probably null
R0422:H2-DMa	UTSW	17	34,356,921 (GRCm39)	missense	probably damaging	1.00
R0620:H2-DMa	UTSW	17	34,356,934 (GRCm39)	missense	probably damaging	0.96
R1240:H2-DMa	UTSW	17	34,357,380 (GRCm39)	critical splice acceptor site	probably null
R1483:H2-DMa	UTSW	17	34,354,724 (GRCm39)	missense	possibly damaging	0.61
R1656:H2-DMa	UTSW	17	34,357,116 (GRCm39)	missense	possibly damaging	0.92
R1696:H2-DMa	UTSW	17	34,357,387 (GRCm39)	missense	probably benign	0.44
R2884:H2-DMa	UTSW	17	34,356,121 (GRCm39)	missense	probably damaging	1.00
R2886:H2-DMa	UTSW	17	34,356,121 (GRCm39)	missense	probably damaging	1.00
R5024:H2-DMa	UTSW	17	34,357,461 (GRCm39)	missense	possibly damaging	0.77
R5236:H2-DMa	UTSW	17	34,356,913 (GRCm39)	missense	probably damaging	1.00
R5632:H2-DMa	UTSW	17	34,356,975 (GRCm39)	missense	probably benign	0.14
R6358:H2-DMa	UTSW	17	34,356,958 (GRCm39)	missense	probably damaging	1.00
R6423:H2-DMa	UTSW	17	34,356,170 (GRCm39)	missense	probably benign	0.05
R7033:H2-DMa	UTSW	17	34,355,971 (GRCm39)	splice site	probably null
R7387:H2-DMa	UTSW	17	34,357,101 (GRCm39)	missense	probably damaging	1.00
R8060:H2-DMa	UTSW	17	34,356,259 (GRCm39)	missense	probably benign	0.05
R8504:H2-DMa	UTSW	17	34,357,416 (GRCm39)	missense	probably damaging	1.00
R8813:H2-DMa	UTSW	17	34,354,734 (GRCm39)	critical splice donor site	probably benign
R9442:H2-DMa	UTSW	17	34,357,132 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTCTGGGATGACCCACAGAACCAC -3'
(R):5'- TTGCCGGGCACGGTAATGAGAATG -3'

Sequencing Primer
(F):5'- ACTCTATTCTGCCAGGACGG -3'
(R):5'- CAATAGATTTCGATGCCTTCAGC -3'

Posted On

2014-05-09