Incidental Mutation 'R6917:H2-Aa'
| ID |
539419 |
| 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 |
045038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34501718-34506797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34502681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 79
(T79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040655]
[ENSMUST00000174751]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040655
AA Change: T162A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046105
Gene: ENSMUSG00000036594
AA Change: T162A
| 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 |
probably damaging
Transcript: ENSMUST00000174751
AA Change: T79A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133399
Gene: ENSMUSG00000036594
AA Change: T79A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,684 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,768,876 (GRCm39) |
M1084K |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,521,164 (GRCm39) |
Y95C |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 53,115,951 (GRCm39) |
E1018G |
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,231,679 (GRCm39) |
S27P |
probably damaging |
Het |
| Ddx31 |
C |
T |
2: 28,782,421 (GRCm39) |
T588I |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,215 (GRCm39) |
W504R |
probably damaging |
Het |
| Echs1 |
T |
G |
7: 139,689,924 (GRCm39) |
M239L |
probably benign |
Het |
| Eno1b |
A |
G |
18: 48,180,656 (GRCm39) |
D278G |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,552,262 (GRCm39) |
T305A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,614 (GRCm39) |
S152C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,996,680 (GRCm39) |
D42G |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,743,013 (GRCm39) |
Y2116N |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,419 (GRCm39) |
M311T |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,622,268 (GRCm39) |
F277L |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,222,563 (GRCm39) |
I249T |
probably damaging |
Het |
| Ldb3 |
G |
A |
14: 34,277,321 (GRCm39) |
A351V |
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,155,446 (GRCm39) |
E996G |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,721 (GRCm39) |
D413G |
possibly damaging |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,744,970 (GRCm39) |
E290G |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,842,053 (GRCm39) |
T735M |
possibly damaging |
Het |
| Or10ak12 |
A |
T |
4: 118,666,326 (GRCm39) |
L245H |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,880,680 (GRCm39) |
K314R |
possibly damaging |
Het |
| Or8g36 |
T |
A |
9: 39,422,495 (GRCm39) |
I174L |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,899 (GRCm39) |
L768P |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,475,823 (GRCm39) |
V302D |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,067 (GRCm39) |
V215E |
possibly damaging |
Het |
| Rad51d |
C |
T |
11: 82,770,159 (GRCm39) |
R199Q |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rtel1 |
ATT |
ATTTT |
2: 180,980,070 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
G |
4: 102,825,388 (GRCm39) |
R772G |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,088,578 (GRCm39) |
T141N |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,262,908 (GRCm39) |
N379K |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,285 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,351,543 (GRCm39) |
I293L |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,949,436 (GRCm39) |
S1649P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,864 (GRCm39) |
S326G |
probably benign |
Het |
| Txndc9 |
A |
C |
1: 38,034,887 (GRCm39) |
S6A |
probably benign |
Het |
| Uhrf1 |
T |
C |
17: 56,616,574 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,741,832 (GRCm39) |
D379G |
possibly damaging |
Het |
| Vsig2 |
T |
A |
9: 37,452,745 (GRCm39) |
S105T |
probably benign |
Het |
| Zfp445 |
A |
T |
9: 122,691,359 (GRCm39) |
|
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,606,834 (GRCm39) |
M456K |
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 |
|
R5608: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 |
|
|
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'- CCCGAAGACATGCTGTTCTAG -3'
(R):5'- AAGTCTTGGCAAGAGGGCTC -3'
Sequencing Primer
(F):5'- CCGAAGACATGCTGTTCTAGAGATG -3'
(R):5'- CAGGCAGTGCAGAGCTTCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation