Incidental Mutation 'R7603:H2-Q7'
| ID |
588138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-Q7
|
| Ensembl Gene |
ENSMUSG00000060550 |
| Gene Name |
histocompatibility 2, Q region locus 7 |
| Synonyms |
Ped, Qa7, Qa-7, H-2Q7 |
| MMRRC Submission |
045713-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R7603 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35439155-35443773 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35439963 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 130
(L130P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071951]
[ENSMUST00000076256]
[ENSMUST00000078205]
[ENSMUST00000116598]
|
| AlphaFold |
P14429 |
| PDB Structure |
crystal structure of the non-classical MHC class Ib Qa-2 complexed with a self peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071951
AA Change: L130P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
3e-97 |
PFAM |
|
IGc1
|
219 |
290 |
7.68e-23 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076256
AA Change: L130P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
3.3e-98 |
PFAM |
|
IGc1
|
219 |
290 |
7.68e-23 |
SMART |
|
low complexity region
|
310 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078205
AA Change: L130P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
1.9e-97 |
PFAM |
|
IGc1
|
219 |
290 |
7.68e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116598
AA Change: L130P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
8.5e-98 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
PHENOTYPE: This locus controls a widely distributed lymphocyte antigen recognized by monoclonal antibody, serology or CTL assay. Using all assays, antigen is present (allele a) in C57BL/6, DBA/1, DBA/2 and SWR and absent (allele b) in AKR, C3H and BALB/c. Other strain allele typings were assay-dependent. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,180,258 (GRCm38) |
K1536E |
possibly damaging |
Het |
| Abhd16a |
T |
A |
17: 35,101,960 (GRCm38) |
|
probably null |
Het |
| Actrt3 |
C |
T |
3: 30,598,547 (GRCm38) |
A133T |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,564,237 (GRCm38) |
R1329W |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,423,456 (GRCm38) |
M280V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,311,628 (GRCm38) |
D50E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,288,682 (GRCm38) |
D470E |
probably damaging |
Het |
| Cyp2c23 |
C |
T |
19: 44,014,930 (GRCm38) |
D269N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,759,019 (GRCm38) |
V53A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm38) |
S422L |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,615,041 (GRCm38) |
V543A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,769,506 (GRCm38) |
G295R |
probably damaging |
Het |
| Frs2 |
T |
C |
10: 117,074,063 (GRCm38) |
T465A |
probably benign |
Het |
| Glipr1 |
A |
T |
10: 111,988,832 (GRCm38) |
N156K |
probably benign |
Het |
| Gnpnat1 |
C |
T |
14: 45,384,617 (GRCm38) |
V40I |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,451,383 (GRCm38) |
L86* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,548,368 (GRCm38) |
L2778P |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,557,192 (GRCm38) |
I3487N |
possibly damaging |
Het |
| Htra4 |
T |
G |
8: 25,025,700 (GRCm38) |
I441L |
probably benign |
Het |
| Ints7 |
A |
T |
1: 191,596,224 (GRCm38) |
H203L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,266,680 (GRCm38) |
T601A |
possibly damaging |
Het |
| Lin7b |
T |
C |
7: 45,368,432 (GRCm38) |
|
probably benign |
Het |
| Lmbr1l |
G |
A |
15: 98,908,691 (GRCm38) |
Q280* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,903,754 (GRCm38) |
|
probably null |
Het |
| Map1lc3b |
A |
T |
8: 121,593,529 (GRCm38) |
H27L |
possibly damaging |
Het |
| Mfsd14a |
C |
A |
3: 116,633,883 (GRCm38) |
V369F |
probably damaging |
Het |
| Ndufa12 |
C |
T |
10: 94,220,779 (GRCm38) |
A123V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,303,514 (GRCm38) |
F929L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,076,697 (GRCm38) |
D279E |
probably benign |
Het |
| Or52m2 |
A |
G |
7: 102,614,938 (GRCm38) |
V17A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,600,212 (GRCm38) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,907,452 (GRCm38) |
I944V |
probably damaging |
Het |
| Phf20 |
C |
T |
2: 156,302,851 (GRCm38) |
A793V |
probably benign |
Het |
| Phf21a |
A |
C |
2: 92,357,007 (GRCm38) |
R540S |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,401,911 (GRCm38) |
C124R |
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,076,175 (GRCm38) |
S93L |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,566,191 (GRCm38) |
T709A |
probably benign |
Het |
| Sele |
A |
G |
1: 164,049,515 (GRCm38) |
E120G |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,546,195 (GRCm38) |
L49P |
|
Het |
| Snap47 |
T |
C |
11: 59,428,547 (GRCm38) |
D255G |
probably damaging |
Het |
| Tcstv3 |
T |
C |
13: 120,317,610 (GRCm38) |
V15A |
probably damaging |
Het |
| Tmcc1 |
A |
T |
6: 116,043,131 (GRCm38) |
Y453* |
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,373,210 (GRCm38) |
G86V |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,772,573 (GRCm38) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 31,011,474 (GRCm38) |
V459E |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,501,620 (GRCm38) |
L209Q |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,576,439 (GRCm38) |
S998P |
probably damaging |
Het |
|
| Other mutations in H2-Q7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0735:H2-Q7
|
UTSW |
17 |
35,440,186 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0839:H2-Q7
|
UTSW |
17 |
35,439,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:H2-Q7
|
UTSW |
17 |
35,439,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1831:H2-Q7
|
UTSW |
17 |
35,439,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1832:H2-Q7
|
UTSW |
17 |
35,439,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1833:H2-Q7
|
UTSW |
17 |
35,439,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2047:H2-Q7
|
UTSW |
17 |
35,440,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4498:H2-Q7
|
UTSW |
17 |
35,439,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4657:H2-Q7
|
UTSW |
17 |
35,442,759 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4784:H2-Q7
|
UTSW |
17 |
35,439,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5387:H2-Q7
|
UTSW |
17 |
35,439,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:H2-Q7
|
UTSW |
17 |
35,439,940 (GRCm38) |
nonsense |
probably null |
|
|
R6410:H2-Q7
|
UTSW |
17 |
35,440,176 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6457:H2-Q7
|
UTSW |
17 |
35,439,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6720:H2-Q7
|
UTSW |
17 |
35,442,678 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6943:H2-Q7
|
UTSW |
17 |
35,439,584 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7069:H2-Q7
|
UTSW |
17 |
35,440,031 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7086:H2-Q7
|
UTSW |
17 |
35,439,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7303:H2-Q7
|
UTSW |
17 |
35,440,061 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7520:H2-Q7
|
UTSW |
17 |
35,442,710 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7747:H2-Q7
|
UTSW |
17 |
35,440,061 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8169:H2-Q7
|
UTSW |
17 |
35,439,934 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:H2-Q7
|
UTSW |
17 |
35,442,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:H2-Q7
|
UTSW |
17 |
35,439,162 (GRCm38) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCCGAGTTTCAGGAGCAG -3'
(R):5'- TCTTCTTCCCCAGGACTGAG -3'
Sequencing Primer
(F):5'- GTTTCAGGAGCAGAACTGACCC -3'
(R):5'- TTCCCGAGCTGCAGGTATCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation