Incidental Mutation 'R4498:H2-Q7'
ID |
331720 |
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 |
041751-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.336)
|
Stock # |
R4498 (G1)
|
Quality Score |
99 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35658131-35662749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35658506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 48
(Y48F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071951]
[ENSMUST00000076256]
[ENSMUST00000078205]
[ENSMUST00000116598]
|
AlphaFold |
P14429 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071951
AA Change: Y48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071843 Gene: ENSMUSG00000060550 AA Change: Y48F
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: Y48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075606 Gene: ENSMUSG00000060550 AA Change: Y48F
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: Y48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077335 Gene: ENSMUSG00000060550 AA Change: Y48F
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: Y48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112297 Gene: ENSMUSG00000060550 AA Change: Y48F
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
|
Meta Mutation Damage Score |
0.4723 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
91% (53/58) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
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 |
|
R6410:H2-Q7
|
UTSW |
17 |
35,659,152 (GRCm39) |
missense |
probably benign |
0.13 |
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'- ATGGCTCTAACAATGCTGCTC -3'
(R):5'- CCCTTGCTCTGGTTGTAGTAGC -3'
Sequencing Primer
(F):5'- AACAATGCTGCTCTTGCTGG -3'
(R):5'- GCTCTGTGCGGTCCTCAG -3'
|
Posted On |
2015-07-21 |