Incidental Mutation 'R5111:H2-Ab1'
ID |
393880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-Ab1
|
Ensembl Gene |
ENSMUSG00000073421 |
Gene Name |
histocompatibility 2, class II antigen A, beta 1 |
Synonyms |
H-2Ab, Ia2, H2-Ab, IAb, Ia-2, Abeta, I-Abeta, A beta, Rmcs1, I-A |
MMRRC Submission |
042699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5111 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34482201-34488392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34486456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 172
(S172T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040828]
|
AlphaFold |
no structure available at present |
PDB Structure |
CRYSTAL STRUCTURE OF CLASS II MHC MOLECULE IAb BOUND TO EALPHA3K PEPTIDE [X-RAY DIFFRACTION]
Crystal structure of murine class II MHC I-Ab in complex with a human CLIP peptide [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR B3K506 [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR YAe62 [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR 2W20 [X-RAY DIFFRACTION]
Crystal Structure of 809.B5 TCR complexed with MHC Class II I-Ab/3k peptide [X-RAY DIFFRACTION]
J809.B5 TCR bound to IAb/3K [X-RAY DIFFRACTION]
J809.B5 Y31A TCR bound to IAb3K [X-RAY DIFFRACTION]
14.C6 TCR complexed with MHC class II I-Ab/3K peptide [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040828
AA Change: S172T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041008 Gene: ENSMUSG00000073421 AA Change: S172T
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
MHC_II_beta
|
40 |
114 |
1.53e-47 |
SMART |
IGc1
|
140 |
211 |
8.47e-34 |
SMART |
transmembrane domain
|
228 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174875
|
Meta Mutation Damage Score |
0.6798 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygotes for targeted null mutations exhibit depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, and increased susceptibility to viral infections. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in H2-Ab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:H2-Ab1
|
APN |
17 |
34,486,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01941:H2-Ab1
|
APN |
17 |
34,486,408 (GRCm39) |
nonsense |
probably null |
|
IGL02826:H2-Ab1
|
APN |
17 |
34,483,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R0479:H2-Ab1
|
UTSW |
17 |
34,483,942 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0815:H2-Ab1
|
UTSW |
17 |
34,486,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R0863:H2-Ab1
|
UTSW |
17 |
34,486,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R1796:H2-Ab1
|
UTSW |
17 |
34,486,346 (GRCm39) |
missense |
probably damaging |
0.99 |
R2875:H2-Ab1
|
UTSW |
17 |
34,482,286 (GRCm39) |
start codon destroyed |
probably benign |
0.21 |
R4042:H2-Ab1
|
UTSW |
17 |
34,483,834 (GRCm39) |
missense |
probably benign |
|
R4687:H2-Ab1
|
UTSW |
17 |
34,483,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R4761:H2-Ab1
|
UTSW |
17 |
34,486,474 (GRCm39) |
missense |
probably damaging |
0.98 |
R4787:H2-Ab1
|
UTSW |
17 |
34,486,441 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5155:H2-Ab1
|
UTSW |
17 |
34,486,358 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5194:H2-Ab1
|
UTSW |
17 |
34,488,352 (GRCm39) |
utr 3 prime |
probably benign |
|
R6869:H2-Ab1
|
UTSW |
17 |
34,486,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R7037:H2-Ab1
|
UTSW |
17 |
34,486,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R7054:H2-Ab1
|
UTSW |
17 |
34,482,316 (GRCm39) |
missense |
probably benign |
0.41 |
R7250:H2-Ab1
|
UTSW |
17 |
34,486,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8295:H2-Ab1
|
UTSW |
17 |
34,483,816 (GRCm39) |
missense |
probably damaging |
0.99 |
R9205:H2-Ab1
|
UTSW |
17 |
34,483,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:H2-Ab1
|
UTSW |
17 |
34,486,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9321:H2-Ab1
|
UTSW |
17 |
34,486,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCATTCATTCCCACCCTG -3'
(R):5'- CACCTAAAATCCCATGTCATGTGG -3'
Sequencing Primer
(F):5'- GGGAGTCTCCACATTGCCTCAC -3'
(R):5'- CATGTCATGTGGGGCCC -3'
|
Posted On |
2016-06-15 |