Incidental Mutation 'R9442:H2-DMa'
| ID |
713705 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R9442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34338667-34358075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34357132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 210
(R210H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042121]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042121
AA Change: R210H
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: R210H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
| Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,839,013 (GRCm39) |
V8A |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
| Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,023,048 (GRCm39) |
D78G |
possibly damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
| Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
| Nlrp9b |
C |
T |
7: 19,779,707 (GRCm39) |
T790I |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
| Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
| Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
| St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,836,306 (GRCm39) |
I1197N |
probably damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
| Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
probably benign |
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 |
|
R6423:H2-DMa
|
UTSW |
17 |
34,356,170 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAAGCCCCTGGAGTTTG -3'
(R):5'- CGTGGGTATCCGGGATAATGAG -3'
Sequencing Primer
(F):5'- AACACGTTGGTCTGTTTCATCAG -3'
(R):5'- GGAAGAATTGGATCATGGAAGCCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation