Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:H2-DMa'

151964

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

039307-MU

Accession Numbers

Essential gene?

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

Stock #

R1240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34338667-34358075 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 34357380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037088 (fasta)

Gene Model

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

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

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

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: ENSMUST00000173262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173907

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,227,984 (GRCm39)	I86L	probably benign	Het
Ankfn1	A	G	11: 89,282,960 (GRCm39)	L229P	probably damaging	Het
Aoc1	T	C	6: 48,882,549 (GRCm39)	S164P	probably benign	Het
Arhgef28	C	T	13: 98,066,000 (GRCm39)	V1618I	probably benign	Het
Arpc3	T	C	5: 122,542,242 (GRCm39)	F88S	probably damaging	Het
Asgr2	G	T	11: 69,987,676 (GRCm39)	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198 (GRCm39)	F432S	probably damaging	Het
Brms1l	C	A	12: 55,891,293 (GRCm39)	R116S	probably damaging	Het
Casp2	T	A	6: 42,245,879 (GRCm39)	C179S	probably damaging	Het
Ccdc73	A	T	2: 104,821,906 (GRCm39)	E618D	probably benign	Het
Cdh6	T	A	15: 13,057,541 (GRCm39)	D260V	possibly damaging	Het
Cenpc1	G	T	5: 86,183,369 (GRCm39)	N473K	probably benign	Het
Chst2	T	C	9: 95,287,536 (GRCm39)	E270G	possibly damaging	Het
Chst9	C	T	18: 15,586,231 (GRCm39)	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,711,250 (GRCm39)	I474L	probably benign	Het
Dbr1	G	T	9: 99,466,073 (GRCm39)	E550D	probably benign	Het
Dph6	T	C	2: 114,475,199 (GRCm39)		probably null	Het
Fam227b	T	A	2: 125,966,505 (GRCm39)	I136L	possibly damaging	Het
Fcgbp	A	G	7: 27,819,950 (GRCm39)	N2559S	probably damaging	Het
Fh1	A	T	1: 175,431,581 (GRCm39)	I435N	probably damaging	Het
Gab1	A	C	8: 81,515,159 (GRCm39)	S386R	probably damaging	Het
Gkn1	T	A	6: 87,326,098 (GRCm39)	N31Y	probably damaging	Het
Grk2	A	G	19: 4,340,707 (GRCm39)	C251R	probably damaging	Het
Hp1bp3	T	C	4: 137,957,009 (GRCm39)	S63P	probably damaging	Het
Ift74	A	G	4: 94,581,174 (GRCm39)		probably null	Het
Inf2	G	A	12: 112,577,210 (GRCm39)	R1018Q	unknown	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Klhl30	T	C	1: 91,288,737 (GRCm39)	S499P	probably benign	Het
Lama2	A	C	10: 26,917,120 (GRCm39)	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,964,626 (GRCm39)	N258S	possibly damaging	Het
Mc1r	T	A	8: 124,134,999 (GRCm39)	C251S	probably damaging	Het
Myo15b	C	A	11: 115,771,327 (GRCm39)	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,456,176 (GRCm39)	F2431S	probably damaging	Het
Neb	T	A	2: 52,186,321 (GRCm39)	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,004,292 (GRCm39)		probably null	Het
Nr1d2	A	T	14: 18,211,891 (GRCm38)	M404K	probably benign	Het
Or4b1d	T	G	2: 89,969,157 (GRCm39)	I109L	possibly damaging	Het
Or8u8	T	G	2: 86,012,453 (GRCm39)	M1L	possibly damaging	Het
Otoa	T	C	7: 120,755,713 (GRCm39)	S1040P	probably benign	Het
Pctp	T	C	11: 89,893,640 (GRCm39)	D10G	probably benign	Het
Pja2	G	T	17: 64,616,613 (GRCm39)	T94K	probably benign	Het
Plxna1	C	T	6: 89,298,032 (GRCm39)	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,638,800 (GRCm39)	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,660,937 (GRCm39)	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,818,021 (GRCm39)	N252S	probably damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc22a22	G	A	15: 57,114,268 (GRCm39)	S353F	probably benign	Het
Slc49a4	A	G	16: 35,518,379 (GRCm39)	F445L	probably benign	Het
Slc7a13	A	T	4: 19,819,212 (GRCm39)	K137N	probably damaging	Het
Snx13	G	T	12: 35,141,405 (GRCm39)	V163L	probably damaging	Het
Synrg	A	T	11: 83,914,182 (GRCm39)	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,740,928 (GRCm39)	V1185A	possibly damaging	Het
Tent5b	T	C	4: 133,213,815 (GRCm39)	F229L	probably benign	Het
Tg	T	A	15: 66,700,397 (GRCm39)	N118K	probably benign	Het
Top1mt	T	C	15: 75,541,916 (GRCm39)	K153E	probably damaging	Het
Trmt11	T	C	10: 30,466,821 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,675,061 (GRCm39)	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,864 (GRCm39)	S137C	probably damaging	Het
Vwf	C	A	6: 125,580,271 (GRCm39)		probably null	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
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
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'- ACACGAGATTGACCGCTACACG -3'
(R):5'- TGGAGAATCCTGGCACACACTGAC -3'

Sequencing Primer
(F):5'- ATGGAAGTCCGGTCCTTCAAG -3'
(R):5'- ACTGACACGGCACTCTTG -3'

Posted On

2014-01-29