Incidental Mutation 'R6648:H2-Q4'
ID |
524398 |
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 |
044769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6648 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35598593-35603650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35601981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 281
(E281V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081435]
|
AlphaFold |
Q8HWB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081435
AA Change: E281V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080159 Gene: ENSMUSG00000035929 AA Change: E281V
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
probably benign |
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 |
R2403:H2-Q4
|
UTSW |
17 |
35,598,973 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- GGGATTTCTTAAATCTTCCACACAG -3'
(R):5'- ACGTTCGCCATGTTGGAGAC -3'
Sequencing Primer
(F):5'- GATCCTCCAAAGGCACATGTG -3'
(R):5'- TCAGGGTCTGCAAAAGGCTC -3'
|
Posted On |
2018-06-22 |