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: 0.058)
|
| 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 |
Incidental Mutation