Incidental Mutation 'R9662:H2-Q6'
| ID |
727649 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R9662 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35643826-35649031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35644185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 56
(R56C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113879]
[ENSMUST00000174699]
|
| AlphaFold |
P79568 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113879
AA Change: R56C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109511
Gene: ENSMUSG00000073409
AA Change: R56C
| 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 damaging
Transcript: ENSMUST00000174699
AA Change: R56C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134550
Gene: ENSMUSG00000073409
AA Change: R56C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,809,468 (GRCm39) |
Y698* |
probably null |
Het |
| Arhgef28 |
C |
A |
13: 98,065,969 (GRCm39) |
G1628V |
probably benign |
Het |
| Bcr |
T |
C |
10: 75,011,152 (GRCm39) |
V1018A |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,411,567 (GRCm38) |
E1263V |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,088,484 (GRCm39) |
K446M |
probably damaging |
Het |
| Celf6 |
C |
T |
9: 59,485,668 (GRCm39) |
A3V |
unknown |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,836,667 (GRCm39) |
S709G |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,925,166 (GRCm39) |
L3889H |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,343,763 (GRCm39) |
T2849A |
probably benign |
Het |
| Exog |
A |
G |
9: 119,281,376 (GRCm39) |
R229G |
probably benign |
Het |
| Fnbp1 |
T |
A |
2: 30,986,042 (GRCm39) |
K114N |
probably damaging |
Het |
| Gm21149 |
A |
T |
5: 15,681,357 (GRCm39) |
N35K |
probably damaging |
Het |
| Gm7324 |
A |
T |
14: 43,952,434 (GRCm39) |
D359V |
unknown |
Het |
| Grin3a |
A |
T |
4: 49,792,432 (GRCm39) |
S434T |
possibly damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,922,397 (GRCm39) |
Y14F |
probably benign |
Het |
| Kcna6 |
T |
G |
6: 126,715,380 (GRCm39) |
E503A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,731,428 (GRCm39) |
V2963A |
unknown |
Het |
| Ltk |
G |
T |
2: 119,582,330 (GRCm39) |
S807* |
probably null |
Het |
| Mars1 |
A |
G |
10: 127,136,349 (GRCm39) |
L492P |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,747,499 (GRCm39) |
Y111F |
possibly damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,115 (GRCm39) |
I286L |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Parg |
T |
C |
14: 31,971,976 (GRCm39) |
L657S |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,174,054 (GRCm39) |
T356A |
probably benign |
Het |
| Ppp3ca |
T |
C |
3: 136,583,501 (GRCm39) |
S203P |
probably damaging |
Het |
| Raver1 |
C |
T |
9: 20,992,550 (GRCm39) |
R293H |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,758,566 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
G |
A |
5: 113,427,097 (GRCm39) |
P398L |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,839,822 (GRCm39) |
C153* |
probably null |
Het |
| Tbx1 |
T |
C |
16: 18,400,882 (GRCm39) |
H434R |
unknown |
Het |
| Tmem151a |
C |
A |
19: 5,132,717 (GRCm39) |
R163L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,671,604 (GRCm39) |
V11320A |
unknown |
Het |
| Zfp207 |
G |
A |
11: 80,286,029 (GRCm39) |
M423I |
unknown |
Het |
| Zfp251 |
A |
T |
15: 76,737,520 (GRCm39) |
H524Q |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,724,383 (GRCm39) |
R2129W |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,240,787 (GRCm39) |
D14V |
probably 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 |
|
R4529:H2-Q6
|
UTSW |
17 |
35,644,820 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
|
X0057:H2-Q6
|
UTSW |
17 |
35,644,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAACAACGCTGCTCTTGC -3'
(R):5'- GAAACTCGGACTTTGGACCC -3'
Sequencing Primer
(F):5'- CAACGCTGCTCTTGCTGGTG -3'
(R):5'- ACTTTGGACCCGGGACCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation