Incidental Mutation 'R5608:H2-Aa'
ID |
439410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-Aa
|
Ensembl Gene |
ENSMUSG00000036594 |
Gene Name |
histocompatibility 2, class II antigen A, alpha |
Synonyms |
Ia1, I-Aalpha, H-2Aa, A alpha, Aalpha, Ia-1 |
MMRRC Submission |
043272-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5608 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34501718-34506797 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34502816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 117
(T117A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040655]
[ENSMUST00000174751]
|
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 |
possibly damaging
Transcript: ENSMUST00000040655
AA Change: T117A
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046105 Gene: ENSMUSG00000036594 AA Change: T117A
Domain | Start | End | E-Value | Type |
MHC_II_alpha
|
31 |
111 |
1.83e-45 |
SMART |
IGc1
|
129 |
200 |
2.51e-27 |
SMART |
Pfam:C1-set_C
|
203 |
255 |
2.1e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173944
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174751
AA Change: T34A
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133399 Gene: ENSMUSG00000036594 AA Change: T34A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IGc1
|
46 |
117 |
2.51e-27 |
SMART |
low complexity region
|
141 |
158 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2103 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (54/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and 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. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele lack cell surface expression of MHC class II molecules on macrophages and show decreased CD4-positive T cell number, increased CD8-positive T cell number, thymus hyperplasia, enlarged lymph nodes, and altered splenocyte response to staphylococcal enterotoxin B. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
Arfgap2 |
G |
A |
2: 91,100,547 (GRCm39) |
R298H |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
Dpysl4 |
T |
C |
7: 138,678,459 (GRCm39) |
V473A |
probably damaging |
Het |
Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Helq |
C |
T |
5: 100,938,085 (GRCm39) |
G454S |
probably damaging |
Het |
Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
Rnf157 |
A |
T |
11: 116,287,146 (GRCm39) |
|
probably null |
Het |
Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
Other mutations in H2-Aa |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:H2-Aa
|
APN |
17 |
34,503,504 (GRCm39) |
missense |
probably damaging |
1.00 |
citation
|
UTSW |
17 |
34,506,651 (GRCm39) |
splice site |
probably null |
|
reference
|
UTSW |
17 |
34,502,794 (GRCm39) |
missense |
probably damaging |
1.00 |
G1citation:H2-Aa
|
UTSW |
17 |
34,506,651 (GRCm39) |
splice site |
probably null |
|
R1556:H2-Aa
|
UTSW |
17 |
34,503,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1901:H2-Aa
|
UTSW |
17 |
34,502,207 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2144:H2-Aa
|
UTSW |
17 |
34,502,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:H2-Aa
|
UTSW |
17 |
34,502,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:H2-Aa
|
UTSW |
17 |
34,502,816 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6264:H2-Aa
|
UTSW |
17 |
34,502,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R6822:H2-Aa
|
UTSW |
17 |
34,506,651 (GRCm39) |
splice site |
probably null |
|
R6917:H2-Aa
|
UTSW |
17 |
34,502,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R7052:H2-Aa
|
UTSW |
17 |
34,503,484 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7116:H2-Aa
|
UTSW |
17 |
34,502,601 (GRCm39) |
nonsense |
probably null |
|
R8168:H2-Aa
|
UTSW |
17 |
34,506,695 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8257:H2-Aa
|
UTSW |
17 |
34,502,211 (GRCm39) |
missense |
probably damaging |
0.97 |
R8264:H2-Aa
|
UTSW |
17 |
34,506,709 (GRCm39) |
missense |
probably benign |
0.18 |
R8682:H2-Aa
|
UTSW |
17 |
34,502,734 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9667:H2-Aa
|
UTSW |
17 |
34,502,295 (GRCm39) |
missense |
probably benign |
|
X0063:H2-Aa
|
UTSW |
17 |
34,506,785 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTTCCACCTTGCAGTC -3'
(R):5'- ATGCAGTGCACATTAGCTCC -3'
Sequencing Primer
(F):5'- CACCTTGCAGTCATAAATGTCATCG -3'
(R):5'- GTGCACATTAGCTCCAAACAGAAGG -3'
|
Posted On |
2016-10-26 |