Incidental Mutation 'R0904:H2-D1'
| ID |
83266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-D1
|
| Ensembl Gene |
ENSMUSG00000073411 |
| Gene Name |
histocompatibility 2, D region locus 1 |
| Synonyms |
H-2D |
| MMRRC Submission |
039062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35482070-35486473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 35482837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 122
(M122I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172785]
|
| AlphaFold |
no structure available at present |
| PDB Structure |
CRYSTAL STRUCTURE OF MURINE CLASS I MHC H2-DB COMPLEXED WITH A SYNTHETIC PEPTIDE P1027 [X-RAY DIFFRACTION]
MHC CLASS I H-2DB COMPLEXED WITH A SENDAI VIRUS NUCLEOPROTEIN PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33(C9M) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH SYNTHETIC PEPTIDE GP33 (C9M/K1A) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33 (C9M/K1S) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LCMV PEPTIDIC EPITOPE GP33 IN COMPLEX WITH THE MURINE CLASS I MHC MOLECULE H-2DB [X-RAY DIFFRACTION]
THE THREE-DIMENSIONAL STRUCTURE OF H-2DB AT 2.4 ANGSTROMS RESOLUTION: IMPLICATIONS FOR ANTIGEN-DETERMINANT SELECTION [X-RAY DIFFRACTION]
Structure of Minor Histocompatibility Antigen peptide, H13a, complexed to H2-Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Gp276 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Np396 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
>> 46 additional structures at PDB <<
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172503
|
| SMART Domains |
Protein: ENSMUSP00000134582
Gene: ENSMUSG00000073411
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hdma1
|
2 |
21 |
3e-8 |
SMART |
|
Pfam:MHC_I_C
|
57 |
81 |
1.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172785
AA Change: M122I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: M122I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
8.3e-93 |
PFAM |
|
IGc1
|
222 |
293 |
4.73e-23 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
337 |
361 |
1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173167
|
| SMART Domains |
Protein: ENSMUSP00000133518
Gene: ENSMUSG00000073411
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hdma1
|
2 |
21 |
3e-8 |
SMART |
|
Pfam:MHC_I_C
|
52 |
76 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174325
|
| Meta Mutation Damage Score |
0.4727 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
| Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
| Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
| Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
| Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
| Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
| Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
| Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
| Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
| Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
| Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly damaging |
Het |
|
| Other mutations in H2-D1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02193:H2-D1
|
APN |
17 |
35,484,785 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02207:H2-D1
|
APN |
17 |
35,482,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02949:H2-D1
|
APN |
17 |
35,483,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
Ancillum
|
UTSW |
17 |
35,482,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
subaltern
|
UTSW |
17 |
35,482,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0627:H2-D1
|
UTSW |
17 |
35,484,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:H2-D1
|
UTSW |
17 |
35,482,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:H2-D1
|
UTSW |
17 |
35,482,564 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1508:H2-D1
|
UTSW |
17 |
35,482,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:H2-D1
|
UTSW |
17 |
35,482,471 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1730:H2-D1
|
UTSW |
17 |
35,482,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:H2-D1
|
UTSW |
17 |
35,482,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:H2-D1
|
UTSW |
17 |
35,482,595 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2125:H2-D1
|
UTSW |
17 |
35,483,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4652:H2-D1
|
UTSW |
17 |
35,485,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4911:H2-D1
|
UTSW |
17 |
35,484,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:H2-D1
|
UTSW |
17 |
35,482,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:H2-D1
|
UTSW |
17 |
35,484,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:H2-D1
|
UTSW |
17 |
35,482,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7525:H2-D1
|
UTSW |
17 |
35,484,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:H2-D1
|
UTSW |
17 |
35,482,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:H2-D1
|
UTSW |
17 |
35,482,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7903:H2-D1
|
UTSW |
17 |
35,482,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8004:H2-D1
|
UTSW |
17 |
35,485,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8167:H2-D1
|
UTSW |
17 |
35,485,741 (GRCm39) |
missense |
|
|
|
R8465:H2-D1
|
UTSW |
17 |
35,482,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8786:H2-D1
|
UTSW |
17 |
35,482,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:H2-D1
|
UTSW |
17 |
35,484,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCGGCTATGTGGACAACAAGG -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGACTG -3'
Sequencing Primer
(F):5'- GAACCTGCTCGGCTACTAC -3'
(R):5'- GGTATCTGTGGAGCCACTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation