Incidental Mutation 'R4529:H2-Q6'
ID |
333054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-Q6
|
Ensembl Gene |
ENSMUSG00000073409 |
Gene Name |
histocompatibility 2, Q region locus 6 |
Synonyms |
Qa-6, Qa6, H-2Q6, 0610037M15Rik |
MMRRC Submission |
041592-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
R4529 (G1)
|
Quality Score |
124 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35643826-35649031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35644820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 203
(T203I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113879]
[ENSMUST00000174699]
|
AlphaFold |
P79568 |
Predicted Effect |
probably null
Transcript: ENSMUST00000113879
AA Change: T203I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109511 Gene: ENSMUSG00000073409 AA Change: T203I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
22 |
200 |
2.1e-92 |
PFAM |
IGc1
|
219 |
290 |
7.68e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174699
AA Change: T203I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134550 Gene: ENSMUSG00000073409 AA Change: T203I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
22 |
200 |
1.1e-93 |
PFAM |
IGc1
|
219 |
290 |
7.68e-23 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: This locus controls a lymph node and splenic lymphocyte antigen detected by BALB/cBy anti-ORA1-a tumor antibody. The strain distribution for presence/absence of antigen varies widely among inbred strains. [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 |
Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
Other mutations in H2-Q6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02505:H2-Q6
|
APN |
17 |
35,644,152 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4508001:H2-Q6
|
UTSW |
17 |
35,644,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:H2-Q6
|
UTSW |
17 |
35,644,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R2426:H2-Q6
|
UTSW |
17 |
35,643,913 (GRCm39) |
missense |
probably benign |
0.06 |
R3236:H2-Q6
|
UTSW |
17 |
35,644,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R3237:H2-Q6
|
UTSW |
17 |
35,644,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R3810:H2-Q6
|
UTSW |
17 |
35,644,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R3827:H2-Q6
|
UTSW |
17 |
35,644,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R3932:H2-Q6
|
UTSW |
17 |
35,644,542 (GRCm39) |
splice site |
probably benign |
|
R4030:H2-Q6
|
UTSW |
17 |
35,644,792 (GRCm39) |
missense |
probably benign |
0.00 |
R4558:H2-Q6
|
UTSW |
17 |
35,647,291 (GRCm39) |
missense |
probably benign |
0.00 |
R5100:H2-Q6
|
UTSW |
17 |
35,644,296 (GRCm39) |
missense |
probably benign |
0.00 |
R5435:H2-Q6
|
UTSW |
17 |
35,644,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5455:H2-Q6
|
UTSW |
17 |
35,643,860 (GRCm39) |
missense |
unknown |
|
R5724:H2-Q6
|
UTSW |
17 |
35,644,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:H2-Q6
|
UTSW |
17 |
35,647,359 (GRCm39) |
critical splice donor site |
probably null |
|
R6752:H2-Q6
|
UTSW |
17 |
35,647,103 (GRCm39) |
missense |
probably damaging |
0.96 |
R6853:H2-Q6
|
UTSW |
17 |
35,647,335 (GRCm39) |
makesense |
probably null |
|
R7421:H2-Q6
|
UTSW |
17 |
35,644,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7558:H2-Q6
|
UTSW |
17 |
35,644,595 (GRCm39) |
missense |
probably benign |
|
R7762:H2-Q6
|
UTSW |
17 |
35,647,077 (GRCm39) |
missense |
probably benign |
0.01 |
R9224:H2-Q6
|
UTSW |
17 |
35,644,309 (GRCm39) |
missense |
probably benign |
0.01 |
R9631:H2-Q6
|
UTSW |
17 |
35,644,292 (GRCm39) |
missense |
probably benign |
0.01 |
R9654:H2-Q6
|
UTSW |
17 |
35,644,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:H2-Q6
|
UTSW |
17 |
35,644,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R9662:H2-Q6
|
UTSW |
17 |
35,644,185 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:H2-Q6
|
UTSW |
17 |
35,644,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACGAAGACCTGAAAACCTG -3'
(R):5'- GCAGCTGTTGTTACCTCAGG -3'
Sequencing Primer
(F):5'- GACCTGAAAACCTGGACGGC -3'
(R):5'- CAGCTGTTGTTACCTCAGGGAAATTC -3'
|
Posted On |
2015-08-18 |