Mutagenetix > Incidental Mutation

Incidental Mutation 'R1483:H2-DMa'

165734

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

039536-MU

Accession Numbers

Essential gene?

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

Stock #

R1483 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

34338667-34358075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34354724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 27 (V27E)

Ref Sequence

ENSEMBL: ENSMUSP00000037088 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042121
AA Change: V27E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: V27E

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,531,754 (GRCm39)	T494S	probably benign	Het
Akap6	C	T	12: 52,842,870 (GRCm39)	P73S	probably damaging	Het
Amotl2	A	T	9: 102,608,096 (GRCm39)	T763S	probably benign	Het
Brd10	G	A	19: 29,696,745 (GRCm39)	P916L	possibly damaging	Het
Cdc5l	A	T	17: 45,719,290 (GRCm39)	V541D	possibly damaging	Het
Chl1	A	G	6: 103,624,248 (GRCm39)	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,931,733 (GRCm39)	E255G	probably benign	Het
Ddhd2	A	G	8: 26,243,155 (GRCm39)	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Drc3	A	G	11: 60,279,715 (GRCm39)	I427V	probably benign	Het
Drg2	T	C	11: 60,350,353 (GRCm39)	I104T	probably damaging	Het
Dst	C	T	1: 34,292,079 (GRCm39)	A932V	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Eif3a	A	T	19: 60,757,164 (GRCm39)	D880E	unknown	Het
Elf1	T	A	14: 79,818,078 (GRCm39)	D569E	probably benign	Het
Esp6	T	A	17: 40,873,816 (GRCm39)	M1K	probably null	Het
Fer1l6	T	C	15: 58,509,819 (GRCm39)	V1427A	possibly damaging	Het
Gsta1	A	T	9: 78,149,775 (GRCm39)	K196M	probably damaging	Het
Gzme	T	A	14: 56,356,169 (GRCm39)	I110F	probably damaging	Het
H2-T10	A	T	17: 36,432,038 (GRCm39)	S2T	probably benign	Het
Hadhb	A	G	5: 30,374,492 (GRCm39)		probably null	Het
Hoxa11	G	T	6: 52,220,436 (GRCm39)	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,572,041 (GRCm39)	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,049,436 (GRCm39)	V88A	possibly damaging	Het
Knop1	C	T	7: 118,452,273 (GRCm39)	A149T	probably damaging	Het
Macf1	T	A	4: 123,404,770 (GRCm39)	K597I	probably damaging	Het
Med16	A	T	10: 79,738,934 (GRCm39)	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937 (GRCm39)	I98K	probably damaging	Het
Mst1	G	T	9: 107,958,849 (GRCm39)	G127V	probably benign	Het
Nacad	A	G	11: 6,552,217 (GRCm39)	S325P	probably damaging	Het
Nbea	G	A	3: 55,910,211 (GRCm39)	P1328L	probably benign	Het
Nek5	C	T	8: 22,586,806 (GRCm39)	S335N	probably benign	Het
Nif3l1	C	A	1: 58,486,885 (GRCm39)	R24S	probably benign	Het
Nlrp14	T	G	7: 106,789,329 (GRCm39)	N39K	possibly damaging	Het
Nup50	T	A	15: 84,823,928 (GRCm39)	V427D	probably damaging	Het
Nwd1	C	T	8: 73,383,714 (GRCm39)	P78L	probably damaging	Het
Or5an9	T	A	19: 12,187,114 (GRCm39)	Y61*	probably null	Het
Pate8	G	A	9: 36,492,620 (GRCm39)	S95L	probably benign	Het
Pnkd	A	G	1: 74,388,550 (GRCm39)	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,360,465 (GRCm39)	D423G	probably benign	Het
Pramel32	T	A	4: 88,547,071 (GRCm39)	Q116L	probably damaging	Het
Prkci	A	T	3: 31,097,941 (GRCm39)	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,093,161 (GRCm39)	V494M	possibly damaging	Het
Rapgef4	T	G	2: 71,885,370 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,160,099 (GRCm39)	E318G	probably damaging	Het
Rora	A	G	9: 69,271,667 (GRCm39)	D215G	probably benign	Het
Rp1l1	C	T	14: 64,266,496 (GRCm39)	T694I	possibly damaging	Het
Scrib	A	G	15: 75,929,771 (GRCm39)	L1032P	probably damaging	Het
Sectm1b	G	A	11: 120,946,652 (GRCm39)	T81M	probably benign	Het
Sgk3	T	C	1: 9,942,518 (GRCm39)	F97L	possibly damaging	Het
Socs3	A	T	11: 117,858,394 (GRCm39)	Y221*	probably null	Het
Spata31d1e	A	T	13: 59,890,717 (GRCm39)	S368T	probably damaging	Het
Tdrd6	T	A	17: 43,938,498 (GRCm39)	H850L	probably benign	Het
Tex44	G	T	1: 86,354,908 (GRCm39)	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 115,938,625 (GRCm39)	S426A	probably benign	Het
Tmem39b	T	C	4: 129,570,456 (GRCm39)	Y461C	probably damaging	Het
Ttn	T	A	2: 76,555,337 (GRCm39)	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,455 (GRCm39)		probably null	Het
Vmn2r70	T	C	7: 85,208,375 (GRCm39)	I701V	probably benign	Het
Vps39	A	T	2: 120,154,129 (GRCm39)	L622Q	probably damaging	Het
Wdfy4	T	A	14: 32,822,923 (GRCm39)	H1347L	probably benign	Het
Xpo1	A	G	11: 23,234,863 (GRCm39)	I540V	probably benign	Het
Xylt2	A	C	11: 94,560,393 (GRCm39)	M294R	probably benign	Het
Zfp788	T	G	7: 41,298,499 (GRCm39)	Y326*	probably null	Het
Zim1	A	G	7: 6,685,124 (GRCm39)	F109L	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
R1656:H2-DMa	UTSW	17	34,357,116 (GRCm39)	missense	possibly damaging	0.92
R1657:H2-DMa	UTSW	17	34,356,373 (GRCm39)	critical splice donor site	probably null
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'- AAGACGGGCTGCTATTGGAGATGC -3'
(R):5'- CAAGACTGTGGGCTGACAACAGAC -3'

Sequencing Primer
(F):5'- CTATTGGAGATGCTCTGTTGAAAC -3'
(R):5'- tgctgcctccactttgac -3'

Posted On

2014-03-28