Incidental Mutation 'R5252:H2-Q4'
| ID |
399150 |
| 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 |
042823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35598593-35603650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35599411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 165
(F165L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081435]
|
| AlphaFold |
Q8HWB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081435
AA Change: F165L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: F165L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
| Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
| Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
| Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
| Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
| Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
| Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
| Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
| Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
| Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
| Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
| Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably 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 |
|
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 |
|
|
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'- CCAAGTTCGAGGTTCTGAGCAG -3'
(R):5'- TCTTCTTCCCCAGGACTGAG -3'
Sequencing Primer
(F):5'- TTCTGAGCAGAACGGACGC -3'
(R):5'- TTCCCGAGCTCCAGGTATCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation