Incidental Mutation 'R6410:H2-Q7'
ID |
514586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-Q7
|
Ensembl Gene |
ENSMUSG00000060550 |
Gene Name |
histocompatibility 2, Q region locus 7 |
Synonyms |
Qa7, Ped, H-2Q7, Qa-7 |
MMRRC Submission |
044383-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.336)
|
Stock # |
R6410 (G1)
|
Quality Score |
184.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35658131-35662749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35659152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 201
(L201P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071951]
[ENSMUST00000076256]
[ENSMUST00000078205]
[ENSMUST00000116598]
|
AlphaFold |
P14429 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071951
AA Change: L201P
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000071843 Gene: ENSMUSG00000060550 AA Change: L201P
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 benign
Transcript: ENSMUST00000076256
AA Change: L201P
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000075606 Gene: ENSMUSG00000060550 AA Change: L201P
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 benign
Transcript: ENSMUST00000078205
AA Change: L201P
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000077335 Gene: ENSMUSG00000060550 AA Change: L201P
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 benign
Transcript: ENSMUST00000116598
AA Change: L201P
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112297 Gene: ENSMUSG00000060550 AA Change: L201P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
22 |
200 |
8.5e-98 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173788
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
Cd28 |
A |
T |
1: 60,804,442 (GRCm39) |
H140L |
probably benign |
Het |
Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
H2-M2 |
A |
G |
17: 37,794,104 (GRCm39) |
V40A |
probably damaging |
Het |
Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
Or7e177 |
T |
A |
9: 20,211,748 (GRCm39) |
I84N |
probably damaging |
Het |
Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,004,880 (GRCm39) |
I157T |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
Het |
Wfdc8 |
T |
A |
2: 164,439,663 (GRCm39) |
I240F |
probably benign |
Het |
|
Other mutations in H2-Q7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0735:H2-Q7
|
UTSW |
17 |
35,659,162 (GRCm39) |
critical splice donor site |
probably null |
|
R0839:H2-Q7
|
UTSW |
17 |
35,658,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:H2-Q7
|
UTSW |
17 |
35,658,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:H2-Q7
|
UTSW |
17 |
35,658,675 (GRCm39) |
missense |
probably benign |
0.00 |
R1832:H2-Q7
|
UTSW |
17 |
35,658,675 (GRCm39) |
missense |
probably benign |
0.00 |
R1833:H2-Q7
|
UTSW |
17 |
35,658,675 (GRCm39) |
missense |
probably benign |
0.00 |
R2047:H2-Q7
|
UTSW |
17 |
35,659,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4498:H2-Q7
|
UTSW |
17 |
35,658,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:H2-Q7
|
UTSW |
17 |
35,661,735 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4784:H2-Q7
|
UTSW |
17 |
35,658,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:H2-Q7
|
UTSW |
17 |
35,658,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:H2-Q7
|
UTSW |
17 |
35,658,916 (GRCm39) |
nonsense |
probably null |
|
R6457:H2-Q7
|
UTSW |
17 |
35,658,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:H2-Q7
|
UTSW |
17 |
35,661,654 (GRCm39) |
missense |
probably benign |
0.05 |
R6943:H2-Q7
|
UTSW |
17 |
35,658,560 (GRCm39) |
missense |
probably benign |
0.30 |
R7069:H2-Q7
|
UTSW |
17 |
35,659,007 (GRCm39) |
missense |
probably damaging |
0.98 |
R7086:H2-Q7
|
UTSW |
17 |
35,658,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:H2-Q7
|
UTSW |
17 |
35,659,037 (GRCm39) |
missense |
probably benign |
0.13 |
R7520:H2-Q7
|
UTSW |
17 |
35,661,686 (GRCm39) |
missense |
probably benign |
0.04 |
R7603:H2-Q7
|
UTSW |
17 |
35,658,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:H2-Q7
|
UTSW |
17 |
35,659,037 (GRCm39) |
missense |
probably benign |
0.13 |
R8169:H2-Q7
|
UTSW |
17 |
35,658,910 (GRCm39) |
nonsense |
probably null |
|
Z1177:H2-Q7
|
UTSW |
17 |
35,661,476 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:H2-Q7
|
UTSW |
17 |
35,658,138 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACATCGCCCTGAACGAAG -3'
(R):5'- GTTACCTCGGGGAAATTCTCTC -3'
Sequencing Primer
(F):5'- TCGCCCTGAACGAAGACCTG -3'
(R):5'- CACTGTCCAGGGAGAAGGCTG -3'
|
Posted On |
2018-05-04 |