Incidental Mutation 'R1238:H2-D1'
| ID |
152516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-D1
|
| Ensembl Gene |
ENSMUSG00000073411 |
| Gene Name |
histocompatibility 2, D region locus 1 |
| Synonyms |
H-2D |
| MMRRC Submission |
039305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35482070-35486473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35482908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 146
(D146G)
|
| 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 damaging
Transcript: ENSMUST00000172785
AA Change: D146G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: D146G
| 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 |
0.6587 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
97% (35/36) |
| 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 |
|---|
| Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,451 (GRCm39) |
N78I |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
| Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
| Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
| Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
| P2rx1 |
A |
C |
11: 72,903,784 (GRCm39) |
K282T |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
| Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
| Slc25a21 |
T |
A |
12: 56,785,272 (GRCm39) |
I202F |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
| Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
probably benign |
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 |
|
R0904:H2-D1
|
UTSW |
17 |
35,482,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGAGGGTTTCTTCTTCCCCAGGAC -3'
Sequencing Primer
(F):5'- GAACCTGCTCGGCTACTAC -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation