Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:H2-DMa'

192289

Institutional Source

Beutler Lab

Gene Symbol

H2-DMa

Ensembl Gene

ENSMUSG00000037649

Gene Name

histocompatibility 2, class II, locus DMa

Synonyms

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

MMRRC Submission

039729-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34135182-34139101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34138413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 220 (Q220L)

Ref Sequence

ENSEMBL: ENSMUSP00000037088 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042121
AA Change: Q220L

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: Q220L

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: 98.4%
10x: 96.5%
20x: 92.9%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,560,597	T25A	possibly damaging	Het
Abca17	T	C	17: 24,267,658	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,588,107	R530W	probably damaging	Het
Ak9	A	G	10: 41,327,589	T159A	possibly damaging	Het
Akap13	G	A	7: 75,609,592	G655S	possibly damaging	Het
Amer2	T	A	14: 60,379,674	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef2	T	A	2: 166,861,638	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,349,506	F150S	probably damaging	Het
Arid2	A	T	15: 96,370,183	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,234,331	V225I	probably damaging	Het
Atp12a	A	T	14: 56,366,088	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,604,502	N109S	probably benign	Het
Cald1	A	G	6: 34,745,711	E104G	probably damaging	Het
Capn15	A	G	17: 25,964,904	V267A	probably benign	Het
Ccng2	A	T	5: 93,273,382	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,174,384	N107Y	probably benign	Het
Cntn2	T	C	1: 132,521,279	N664S	probably damaging	Het
Cyp24a1	T	G	2: 170,486,043	E426D	probably benign	Het
Cyp26a1	A	G	19: 37,701,178	S441G	probably benign	Het
Cyp4f14	T	A	17: 32,909,171	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,400,324	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,653,120	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,781,798	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,676,710	K598*	probably null	Het
Dph7	T	C	2: 24,969,680		probably null	Het
Ehbp1	T	C	11: 22,053,441	M1103V	probably damaging	Het
Ell2	T	C	13: 75,769,558	S536P	probably damaging	Het
Ero1l	A	T	14: 45,299,935	V178E	probably damaging	Het
Faf2	T	A	13: 54,638,254	*50R	probably null	Het
Fbxl14	A	T	6: 119,480,146	N96I	probably damaging	Het
Fcrls	T	C	3: 87,259,518	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,808,799	M531K	unknown	Het
Foxp1	A	C	6: 98,945,702	S391A	probably benign	Het
Frem2	A	T	3: 53,656,042	L348*	probably null	Het
Fsd1	T	A	17: 55,988,257		probably null	Het
Gab2	A	G	7: 97,223,633	E81G	probably damaging	Het
Gcat	G	A	15: 79,035,795	V196M	probably damaging	Het
Gfy	T	C	7: 45,178,046	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,494,979	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,109,459	I343T	probably damaging	Het
Heatr1	A	G	13: 12,423,721	I1346V	possibly damaging	Het
Igfbp1	T	C	11: 7,201,922	W242R	probably damaging	Het
Igfbp1	T	A	11: 7,197,978	V7D	probably benign	Het
Kbtbd2	T	G	6: 56,779,341	K470T	probably benign	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,866,843	G499V	probably damaging	Het
Krt7	A	T	15: 101,423,426	T375S	probably benign	Het
Krt73	G	A	15: 101,799,909	L238F	probably damaging	Het
Lama5	G	T	2: 180,202,486	H331Q	probably damaging	Het
Leng8	T	G	7: 4,145,136	F663V	probably damaging	Het
Lrp12	G	T	15: 39,878,361	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,468,723	R1042S	probably damaging	Het
Map6	T	A	7: 99,317,457		probably null	Het
Mdn1	T	C	4: 32,700,417	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699	T142A	probably damaging	Het
Mmp23	T	A	4: 155,650,709	*392C	probably null	Het
Nlrp4a	C	T	7: 26,450,534	S522F	probably damaging	Het
Nup93	T	G	8: 94,296,555	F254V	probably benign	Het
Oas1h	G	T	5: 120,862,822		probably null	Het
Ocstamp	A	G	2: 165,396,174	L390P	probably damaging	Het
Olfm1	C	A	2: 28,208,116	Y20*	probably null	Het
Olfr1111	A	G	2: 87,150,380	F94L	probably benign	Het
Olfr455	C	T	6: 42,538,603	V140M	probably benign	Het
Olfr541	A	T	7: 140,704,496	K82*	probably null	Het
Olfr608	T	C	7: 103,470,177	V46A	probably benign	Het
Olfr853	A	G	9: 19,537,894	F12S	probably damaging	Het
Pgghg	T	C	7: 140,945,311	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,342,648	D878E	probably benign	Het
Pspc1	T	C	14: 56,764,243	T225A	probably benign	Het
Rad21l	A	T	2: 151,668,527	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,085,724	N280S	probably benign	Het
Rdm1	C	A	11: 101,630,868	Q150K	probably benign	Het
Rrp12	A	T	19: 41,873,749	F932I	probably damaging	Het
Ryr2	A	T	13: 11,731,657	M2003K	probably benign	Het
Scfd2	T	C	5: 74,530,878	T248A	probably benign	Het
Slc22a16	G	A	10: 40,584,927	A242T	possibly damaging	Het
Slit3	C	A	11: 35,675,923	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,267,063	G187C	probably damaging	Het
Spag5	T	C	11: 78,321,326	V1060A	probably damaging	Het
Spg7	G	A	8: 123,090,225	V552I	probably benign	Het
Spns2	T	A	11: 72,456,347	T434S	probably benign	Het
Srpk2	C	T	5: 23,548,494	W87*	probably null	Het
St3gal3	T	C	4: 117,940,392	I268V	possibly damaging	Het
Stat6	T	C	10: 127,653,049	C356R	probably damaging	Het
Stx8	A	G	11: 68,011,422	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,922,169	L319F	probably damaging	Het
Tex14	T	C	11: 87,511,545	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,095,785	V109A	probably benign	Het
Tmem127	C	A	2: 127,248,707	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,090,223	K9*	probably null	Het
Tnfrsf1b	T	A	4: 145,227,474	T102S	probably benign	Het
Tor1aip1	A	T	1: 156,017,516	M110K	possibly damaging	Het
Trim10	A	T	17: 36,877,181	K430*	probably null	Het
Trove2	T	A	1: 143,757,837	I508F	probably damaging	Het
Trpv6	A	G	6: 41,621,768	V641A	possibly damaging	Het
Ttf1	T	G	2: 29,070,002	Y541D	probably damaging	Het
Ttn	A	G	2: 76,764,406	V20432A	probably damaging	Het
Vac14	A	T	8: 110,632,447		probably null	Het
Vipr2	G	T	12: 116,139,157	A296S	probably benign	Het
Vmn1r1	T	C	1: 182,158,059	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,894,200	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,410,728	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 12,041,620	Q40*	probably null	Het
Vmn2r76	T	C	7: 86,231,256	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,290,781	M404K	possibly damaging	Het

Other mutations in H2-DMa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03286:H2-DMa	APN	17	34,137,109 (GRCm38)	splice site	probably null
R0422:H2-DMa	UTSW	17	34,137,947 (GRCm38)	missense	probably damaging	1.00
R0620:H2-DMa	UTSW	17	34,137,960 (GRCm38)	missense	probably damaging	0.96
R1240:H2-DMa	UTSW	17	34,138,406 (GRCm38)	critical splice acceptor site	probably null
R1483:H2-DMa	UTSW	17	34,135,750 (GRCm38)	missense	possibly damaging	0.61
R1656:H2-DMa	UTSW	17	34,138,142 (GRCm38)	missense	possibly damaging	0.92
R1657:H2-DMa	UTSW	17	34,137,399 (GRCm38)	critical splice donor site	probably null
R2884:H2-DMa	UTSW	17	34,137,147 (GRCm38)	missense	probably damaging	1.00
R2886:H2-DMa	UTSW	17	34,137,147 (GRCm38)	missense	probably damaging	1.00
R5024:H2-DMa	UTSW	17	34,138,487 (GRCm38)	missense	possibly damaging	0.77
R5236:H2-DMa	UTSW	17	34,137,939 (GRCm38)	missense	probably damaging	1.00
R5632:H2-DMa	UTSW	17	34,138,001 (GRCm38)	missense	probably benign	0.14
R6358:H2-DMa	UTSW	17	34,137,984 (GRCm38)	missense	probably damaging	1.00
R6423:H2-DMa	UTSW	17	34,137,196 (GRCm38)	missense	probably benign	0.05
R7033:H2-DMa	UTSW	17	34,136,997 (GRCm38)	splice site	probably null
R7387:H2-DMa	UTSW	17	34,138,127 (GRCm38)	missense	probably damaging	1.00
R8060:H2-DMa	UTSW	17	34,137,285 (GRCm38)	missense	probably benign	0.05
R8504:H2-DMa	UTSW	17	34,138,442 (GRCm38)	missense	probably damaging	1.00
R8813:H2-DMa	UTSW	17	34,135,760 (GRCm38)	critical splice donor site	probably benign
R9442:H2-DMa	UTSW	17	34,138,158 (GRCm38)	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

2014-05-14