Incidental Mutation 'R6423:H2-DMa'
| ID |
518252 |
| 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 |
044386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R6423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34338667-34358075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34356170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 57
(I57M)
|
| 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: I57M
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: I57M
| 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: ENSMUST00000173706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173907
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,778 (GRCm39) |
M2842L |
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,741,213 (GRCm39) |
I48M |
probably benign |
Het |
| Adgrb1 |
G |
T |
15: 74,459,992 (GRCm39) |
|
probably null |
Het |
| Arhgap10 |
G |
T |
8: 78,244,386 (GRCm39) |
S9R |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,678 (GRCm39) |
E807G |
possibly damaging |
Het |
| Chia1 |
A |
G |
3: 106,036,304 (GRCm39) |
T295A |
possibly damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,002,350 (GRCm39) |
|
probably null |
Het |
| Ets1 |
A |
G |
9: 32,649,611 (GRCm39) |
K316R |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,445,155 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
G |
A |
8: 121,811,834 (GRCm39) |
G233R |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,223,566 (GRCm39) |
V856I |
probably benign |
Het |
| Iqub |
T |
C |
6: 24,491,528 (GRCm39) |
D386G |
probably damaging |
Het |
| Kcna3 |
C |
A |
3: 106,944,158 (GRCm39) |
Y140* |
probably null |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Mgam |
A |
G |
6: 40,653,979 (GRCm39) |
Y844C |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,062 (GRCm39) |
Q2605R |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,164,966 (GRCm39) |
I316T |
unknown |
Het |
| Nell2 |
A |
T |
15: 95,425,163 (GRCm39) |
F63Y |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,516,189 (GRCm39) |
I228V |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,433,077 (GRCm39) |
N299S |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,733 (GRCm39) |
I449V |
probably 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 |
|
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 |
|
R8504:H2-DMa
|
UTSW |
17 |
34,357,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCCCAGGTGTACACAGTTG -3'
(R):5'- TTGACCTTCAAGCTTCGGGC -3'
Sequencing Primer
(F):5'- CCCAGGTGTACACAGTTGCTTTTG -3'
(R):5'- GGCTCACTTCCCGCATCAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation