Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:H2-DMa'

655499

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

067840-MU

Accession Numbers

Essential gene?

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

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34338667-34358075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34357416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 230 (N230D)

Ref Sequence

ENSEMBL: ENSMUSP00000037088 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042121
AA Change: N230D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: N230D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,922,983 (GRCm39)	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,173,491 (GRCm39)	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,757,840 (GRCm39)	E758G	probably benign	Het
Akap3	T	A	6: 126,841,493 (GRCm39)	D37E	probably damaging	Het
Ano5	A	T	7: 51,222,776 (GRCm39)	H445L	probably benign	Het
Ap4b1	T	A	3: 103,720,116 (GRCm39)	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,470,354 (GRCm39)	K135E	probably benign	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,885,366 (GRCm39)	Y1119*	probably null	Het
Birc6	T	A	17: 74,959,000 (GRCm39)	M3839K	probably damaging	Het
Cacna1a	A	G	8: 85,365,370 (GRCm39)	H2171R	probably benign	Het
Ccdc90b	T	A	7: 92,224,545 (GRCm39)	D183E	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh23	T	A	10: 60,274,618 (GRCm39)	T491S	probably benign	Het
Cercam	T	C	2: 29,771,829 (GRCm39)	S550P	possibly damaging	Het
Chd9	A	G	8: 91,723,472 (GRCm39)	H1019R	unknown	Het
Coil	A	T	11: 88,871,980 (GRCm39)	K114*	probably null	Het
Csmd2	A	C	4: 128,440,483 (GRCm39)	T3183P		Het
Cul9	T	C	17: 46,814,506 (GRCm39)	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,587,186 (GRCm39)	Q199*	probably null	Het
Elp3	A	T	14: 65,785,360 (GRCm39)	S499R	probably benign	Het
Exoc8	T	G	8: 125,622,709 (GRCm39)	I553L	probably benign	Het
Fyco1	C	A	9: 123,659,142 (GRCm39)	V345L	probably benign	Het
Galr3	T	A	15: 78,927,279 (GRCm39)	V240E	probably damaging	Het
Gm21190	A	G	5: 15,730,862 (GRCm39)	S165P	probably benign	Het
Gnal	T	A	18: 67,350,255 (GRCm39)	Y372*	probably null	Het
Hk2	T	C	6: 82,721,847 (GRCm39)	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,544 (GRCm39)	I16F	possibly damaging	Het
Ivl	T	C	3: 92,480,078 (GRCm39)		probably benign	Het
Klhl8	G	A	5: 104,015,814 (GRCm39)	T434M	probably benign	Het
Lct	A	T	1: 128,215,306 (GRCm39)	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,810,065 (GRCm39)	Y132F	probably damaging	Het
M6pr	T	C	6: 122,293,029 (GRCm39)	V203A	possibly damaging	Het
Map9	T	C	3: 82,284,476 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,360,892 (GRCm39)	D1401V	probably damaging	Het
Myh7	A	G	14: 55,227,786 (GRCm39)	S291P	probably damaging	Het
Nynrin	G	C	14: 56,107,703 (GRCm39)	V937L	probably benign	Het
Or5d44	C	T	2: 88,141,825 (GRCm39)	G105D	probably benign	Het
Or5m3	T	G	2: 85,838,149 (GRCm39)	F10V	probably damaging	Het
Pank2	A	G	2: 131,135,320 (GRCm39)	N386S	probably benign	Het
Phkg2	G	T	7: 127,181,528 (GRCm39)	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,590,432 (GRCm39)	V1772I	probably benign	Het
Plch2	G	T	4: 155,068,852 (GRCm39)	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,369,764 (GRCm39)	I77N	probably damaging	Het
Ptprb	A	G	10: 116,176,936 (GRCm39)	T954A	probably benign	Het
Ranbp3	T	C	17: 57,015,273 (GRCm39)	V325A	probably damaging	Het
Rgs10	A	T	7: 128,019,793 (GRCm39)	S16T	probably benign	Het
Scaper	A	T	9: 55,771,722 (GRCm39)	V398E	probably benign	Het
Selenot	A	G	3: 58,492,698 (GRCm39)	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,439,092 (GRCm39)	C173S	probably benign	Het
Slc13a3	G	T	2: 165,275,999 (GRCm39)	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,701,171 (GRCm39)	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,291,390 (GRCm39)	L256R	probably damaging	Het
Tektl1	T	C	10: 78,585,038 (GRCm39)	D266G	probably benign	Het
Tektl1	T	C	10: 78,586,463 (GRCm39)	D196G	probably damaging	Het
Top2a	C	T	11: 98,905,567 (GRCm39)	V337I	probably benign	Het
Tut4	T	C	4: 108,388,139 (GRCm39)	L1160P	probably damaging	Het
Unc13a	A	C	8: 72,098,405 (GRCm39)	F1127V	possibly damaging	Het
Wdr25	C	T	12: 108,992,393 (GRCm39)	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,664,719 (GRCm39)	L526R	probably damaging	Het
Zeb1	C	A	18: 5,705,127 (GRCm39)	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,303,243 (GRCm39)	S1580R	probably benign	Het
Zfhx3	A	G	8: 109,583,549 (GRCm39)	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,179,492 (GRCm39)	V1038L	probably benign	Het
Zfp759	T	A	13: 67,286,947 (GRCm39)	V166E	probably benign	Het
Zfp985	A	T	4: 147,667,883 (GRCm39)	K250N	possibly damaging	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
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
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'- CGGTCCTTCAAGGGGTGAAAAG -3'
(R):5'- CAAGTGGAGAATCCTGGCAC -3'

Sequencing Primer
(F):5'- GGTGGGGCCCTCTAATTTTAC -3'
(R):5'- TGGAGAATCCTGGCACACACTG -3'

Posted On

2020-10-20