Incidental Mutation 'R2403:H2-Q4'
ID |
248840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-Q4
|
Ensembl Gene |
ENSMUSG00000035929 |
Gene Name |
histocompatibility 2, Q region locus 4 |
Synonyms |
Qat-4, Qa-4, Qa4, Qb-1, H2-Gs10, Qb1, H-2Q4 |
MMRRC Submission |
040369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35598593-35603650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35598973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 81
(E81G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081435]
|
AlphaFold |
Q8HWB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081435
AA Change: E81G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080159 Gene: ENSMUSG00000035929 AA Change: E81G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
50 |
228 |
1.7e-93 |
PFAM |
IGc1
|
247 |
318 |
8.55e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173975
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: This locus controls an antigen on peripheral T-cells of spleen, lymph node and bone marrow, but not on thymocytes. Strain distribution patterns vary by assay, measuring presence/absence of antigen, protein acidic/basic qualities and molecular polymorphisms. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,964,592 (GRCm39) |
E925G |
probably damaging |
Het |
Abca9 |
T |
G |
11: 110,006,280 (GRCm39) |
Q1275P |
probably benign |
Het |
Adgrl1 |
T |
A |
8: 84,657,870 (GRCm39) |
M492K |
probably benign |
Het |
Ankrd50 |
T |
A |
3: 38,537,234 (GRCm39) |
K3* |
probably null |
Het |
Arl5b |
T |
C |
2: 15,079,848 (GRCm39) |
S140P |
probably damaging |
Het |
Armc1 |
T |
C |
3: 19,211,840 (GRCm39) |
|
probably benign |
Het |
Ascc1 |
T |
C |
10: 59,840,663 (GRCm39) |
I8T |
probably benign |
Het |
Bche |
A |
G |
3: 73,608,805 (GRCm39) |
V207A |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 28,627,259 (GRCm39) |
L1080P |
probably benign |
Het |
Ceacam3 |
C |
A |
7: 16,895,779 (GRCm39) |
A583D |
probably damaging |
Het |
Cep290 |
C |
T |
10: 100,373,299 (GRCm39) |
A1193V |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,290,046 (GRCm39) |
I827T |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,175,641 (GRCm39) |
D69G |
possibly damaging |
Het |
Cts3 |
A |
G |
13: 61,712,806 (GRCm39) |
W305R |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,815,084 (GRCm39) |
I578T |
possibly damaging |
Het |
Dnmt3a |
G |
A |
12: 3,949,883 (GRCm39) |
V559M |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,016,549 (GRCm39) |
V70A |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,752,434 (GRCm39) |
V993A |
probably benign |
Het |
Etl4 |
T |
A |
2: 20,812,117 (GRCm39) |
L1768* |
probably null |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fat3 |
T |
G |
9: 15,881,167 (GRCm39) |
D3235A |
probably damaging |
Het |
Fbxo36 |
T |
A |
1: 84,877,823 (GRCm39) |
F162I |
probably damaging |
Het |
Fgfrl1 |
T |
C |
5: 108,852,897 (GRCm39) |
W200R |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,811,064 (GRCm39) |
M2461T |
possibly damaging |
Het |
Fut1 |
A |
G |
7: 45,268,643 (GRCm39) |
Y144C |
probably benign |
Het |
Gprin3 |
G |
A |
6: 59,331,134 (GRCm39) |
A391V |
probably benign |
Het |
Hacd3 |
A |
G |
9: 64,908,311 (GRCm39) |
S162P |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,114,150 (GRCm39) |
H918Q |
probably benign |
Het |
Lrp5 |
C |
A |
19: 3,647,430 (GRCm39) |
D1271Y |
probably damaging |
Het |
Lsm8 |
C |
T |
6: 18,849,643 (GRCm39) |
T17I |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,958,145 (GRCm39) |
D141V |
probably damaging |
Het |
Nckap5 |
G |
A |
1: 125,955,146 (GRCm39) |
H405Y |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or12k8 |
T |
C |
2: 36,974,986 (GRCm39) |
Y258C |
probably benign |
Het |
Ostf1 |
T |
C |
19: 18,562,026 (GRCm39) |
K190R |
probably benign |
Het |
Pnldc1 |
A |
T |
17: 13,118,777 (GRCm39) |
V197E |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,016,270 (GRCm39) |
S531P |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,516,973 (GRCm39) |
E3318K |
probably damaging |
Het |
Scamp2 |
T |
C |
9: 57,484,995 (GRCm39) |
V67A |
possibly damaging |
Het |
Serpina3g |
C |
A |
12: 104,207,421 (GRCm39) |
L195M |
probably damaging |
Het |
Siglec1 |
G |
T |
2: 130,916,395 (GRCm39) |
T1185N |
possibly damaging |
Het |
Sycp2 |
G |
A |
2: 178,045,528 (GRCm39) |
Q31* |
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,854,578 (GRCm39) |
T277P |
probably damaging |
Het |
Trim34b |
C |
T |
7: 103,978,876 (GRCm39) |
S41L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,557,705 (GRCm39) |
T21507A |
possibly damaging |
Het |
Umad1 |
T |
C |
6: 8,427,161 (GRCm39) |
V138A |
possibly damaging |
Het |
Zfp523 |
A |
G |
17: 28,414,183 (GRCm39) |
I72M |
probably damaging |
Het |
Zfp655 |
C |
T |
5: 145,181,356 (GRCm39) |
R405C |
probably benign |
Het |
Zfp715 |
G |
A |
7: 42,948,692 (GRCm39) |
R423C |
possibly damaging |
Het |
|
Other mutations in H2-Q4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00950:H2-Q4
|
APN |
17 |
35,601,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01341:H2-Q4
|
APN |
17 |
35,601,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01538:H2-Q4
|
APN |
17 |
35,602,288 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03258:H2-Q4
|
APN |
17 |
35,599,095 (GRCm39) |
missense |
probably benign |
0.29 |
FR4304:H2-Q4
|
UTSW |
17 |
35,599,381 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4340:H2-Q4
|
UTSW |
17 |
35,599,381 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:H2-Q4
|
UTSW |
17 |
35,599,381 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:H2-Q4
|
UTSW |
17 |
35,599,381 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:H2-Q4
|
UTSW |
17 |
35,599,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:H2-Q4
|
UTSW |
17 |
35,601,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R1887:H2-Q4
|
UTSW |
17 |
35,599,113 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2013:H2-Q4
|
UTSW |
17 |
35,599,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:H2-Q4
|
UTSW |
17 |
35,599,378 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3813:H2-Q4
|
UTSW |
17 |
35,602,071 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3928:H2-Q4
|
UTSW |
17 |
35,598,666 (GRCm39) |
missense |
unknown |
|
R5076:H2-Q4
|
UTSW |
17 |
35,599,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R5096:H2-Q4
|
UTSW |
17 |
35,598,689 (GRCm39) |
splice site |
probably benign |
|
R5252:H2-Q4
|
UTSW |
17 |
35,599,411 (GRCm39) |
missense |
probably benign |
0.00 |
R5318:H2-Q4
|
UTSW |
17 |
35,602,287 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5618:H2-Q4
|
UTSW |
17 |
35,598,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R6648:H2-Q4
|
UTSW |
17 |
35,601,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:H2-Q4
|
UTSW |
17 |
35,601,854 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7846:H2-Q4
|
UTSW |
17 |
35,599,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R9047:H2-Q4
|
UTSW |
17 |
35,598,969 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9258:H2-Q4
|
UTSW |
17 |
35,599,105 (GRCm39) |
missense |
probably benign |
0.03 |
R9352:H2-Q4
|
UTSW |
17 |
35,601,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:H2-Q4
|
UTSW |
17 |
35,599,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAATGCTGCTTCTGCTGG -3'
(R):5'- CTCAGAACCTCGAACTTGGG -3'
Sequencing Primer
(F):5'- AGACCCTGATCGAGATCCG -3'
(R):5'- TCGTGACCTCCGATCCG -3'
|
Posted On |
2014-11-11 |