Incidental Mutation 'R1627:H2-D1'
| ID |
172579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-D1
|
| Ensembl Gene |
ENSMUSG00000073411 |
| Gene Name |
histocompatibility 2, D region locus 1 |
| Synonyms |
H-2D |
| MMRRC Submission |
039664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1627 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35482070-35486473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35482471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 64
(A64S)
|
| 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: A64S
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: A64S
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
| 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 |
|---|
| Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
| C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
| Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
| Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
| Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
| Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,112,539 (GRCm38) |
V354M |
probably damaging |
Het |
| Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,094,571 (GRCm39) |
D949G |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,091 (GRCm39) |
D110G |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
| Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
G |
C |
1: 13,060,607 (GRCm39) |
P38R |
probably damaging |
Het |
| Snx33 |
C |
A |
9: 56,833,241 (GRCm39) |
R276L |
probably damaging |
Het |
| Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
| Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
probably 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 |
|
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 |
|
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'- GGTTATAAAGTCCACGCAACCCGC -3'
(R):5'- ACATCTGCTGGAGTGTGTGAGAGC -3'
Sequencing Primer
(F):5'- GAGGGAAACGGCCTCTG -3'
(R):5'- gcggACTCCTCCAAACTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation