Incidental Mutation 'R3810:H2-Q6'
| ID |
275177 |
| 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 |
040880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R3810 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35643826-35649031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35644757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 182
(E182G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113879]
[ENSMUST00000174699]
|
| AlphaFold |
P79568 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113879
AA Change: E182G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109511
Gene: ENSMUSG00000073409
AA Change: E182G
| 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: E182G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134550
Gene: ENSMUSG00000073409
AA Change: E182G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
| Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
| Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
| Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCAGTGGATGTATGGCTGTGAC -3'
(R):5'- AGTCACTGTGATGAGGGATCAG -3'
Sequencing Primer
(F):5'- TGTGACGTGGGGTCCGAC -3'
(R):5'- CTGTGATGAGGGATCAGGAGACC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation