Incidental Mutation 'IGL01341:H2-Q4'
ID |
74836 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL01341
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35598593-35603650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35601978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 280
(V280E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081435]
|
AlphaFold |
Q8HWB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081435
AA Change: V280E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080159 Gene: ENSMUSG00000035929 AA Change: V280E
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
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 |
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 |
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 |
|
Posted On |
2013-10-07 |