Incidental Mutation 'IGL02193:H2-D1'
| ID |
283945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-D1
|
| Ensembl Gene |
ENSMUSG00000073411 |
| Gene Name |
histocompatibility 2, D region locus 1 |
| Synonyms |
H-2D |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35482070-35486473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 35484785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 215
(H215Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000172785
AA Change: H215Q
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: H215Q
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,572,815 (GRCm39) |
L812P |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,808,767 (GRCm39) |
F714I |
probably benign |
Het |
| Armh3 |
G |
T |
19: 45,961,323 (GRCm39) |
T118K |
probably benign |
Het |
| Celf5 |
A |
G |
10: 81,306,507 (GRCm39) |
I52T |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,729,809 (GRCm39) |
V771A |
probably benign |
Het |
| Enpep |
G |
T |
3: 129,075,336 (GRCm39) |
L661I |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,993,486 (GRCm39) |
N377D |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,442,264 (GRCm39) |
E190G |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,302 (GRCm39) |
M285I |
probably benign |
Het |
| Gm5900 |
A |
C |
7: 104,599,231 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6133 |
A |
G |
18: 78,393,308 (GRCm39) |
N101D |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,746,531 (GRCm39) |
K116E |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,443,700 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
T |
C |
10: 62,853,056 (GRCm39) |
H195R |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,782 (GRCm39) |
T939A |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,498,162 (GRCm39) |
L411Q |
probably damaging |
Het |
| Krt79 |
G |
T |
15: 101,848,340 (GRCm39) |
P104T |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,918,670 (GRCm39) |
M384L |
probably benign |
Het |
| Lamb2 |
T |
G |
9: 108,366,559 (GRCm39) |
D1590E |
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,854,879 (GRCm39) |
C10* |
probably null |
Het |
| Mamdc4 |
G |
A |
2: 25,454,458 (GRCm39) |
A1082V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,159,117 (GRCm39) |
L799H |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or2y13 |
C |
T |
11: 49,414,571 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,977,059 (GRCm39) |
N6K |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,753 (GRCm39) |
|
probably benign |
Het |
| Otud6b |
T |
C |
4: 14,812,543 (GRCm39) |
H268R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,927 (GRCm39) |
E138G |
probably damaging |
Het |
| Phactr1 |
T |
C |
13: 42,863,176 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,562,733 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,199 (GRCm39) |
|
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,999,647 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,828,913 (GRCm39) |
T191A |
probably benign |
Het |
| Slc25a3 |
A |
G |
10: 90,953,977 (GRCm39) |
V245A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc1 |
A |
G |
18: 9,992,863 (GRCm39) |
D545G |
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,737 (GRCm39) |
M69K |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,196,344 (GRCm39) |
V1456A |
probably benign |
Het |
| Trappc6a |
T |
A |
7: 19,249,144 (GRCm39) |
C124S |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,628 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-D1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation