Incidental Mutation 'R5499:H2-Q7'
ID |
430544 |
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 |
043060-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.336)
|
Stock # |
R5499 (G1)
|
Quality Score |
108 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35658131-35662749 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 35658916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 122
(C122*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071951]
[ENSMUST00000076256]
[ENSMUST00000078205]
[ENSMUST00000116598]
|
AlphaFold |
P14429 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071951
AA Change: C122*
|
SMART Domains |
Protein: ENSMUSP00000071843 Gene: ENSMUSG00000060550 AA Change: C122*
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 null
Transcript: ENSMUST00000076256
AA Change: C122*
|
SMART Domains |
Protein: ENSMUSP00000075606 Gene: ENSMUSG00000060550 AA Change: C122*
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 null
Transcript: ENSMUST00000078205
AA Change: C122*
|
SMART Domains |
Protein: ENSMUSP00000077335 Gene: ENSMUSG00000060550 AA Change: C122*
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 null
Transcript: ENSMUST00000116598
AA Change: C122*
|
SMART Domains |
Protein: ENSMUSP00000112297 Gene: ENSMUSG00000060550 AA Change: C122*
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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.0%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
G |
A |
2: 68,432,137 (GRCm39) |
E74K |
unknown |
Het |
Adam10 |
A |
T |
9: 70,647,399 (GRCm39) |
H176L |
probably benign |
Het |
Anapc5 |
C |
T |
5: 122,926,476 (GRCm39) |
E621K |
probably damaging |
Het |
Asf1a |
T |
A |
10: 53,482,266 (GRCm39) |
L26Q |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,458,264 (GRCm39) |
L666P |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,373,515 (GRCm39) |
R1265H |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,441,888 (GRCm39) |
|
probably null |
Het |
Ctse |
T |
A |
1: 131,600,251 (GRCm39) |
Y333* |
probably null |
Het |
Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,070,209 (GRCm39) |
V1532D |
possibly damaging |
Het |
Dnai7 |
A |
T |
6: 145,123,157 (GRCm39) |
W570R |
probably damaging |
Het |
Ercc6 |
G |
A |
14: 32,238,916 (GRCm39) |
M1I |
probably null |
Het |
Fbxl4 |
A |
G |
4: 22,386,017 (GRCm39) |
E208G |
probably damaging |
Het |
Fstl4 |
G |
T |
11: 52,959,374 (GRCm39) |
M138I |
probably benign |
Het |
Galnt17 |
T |
A |
5: 130,929,466 (GRCm39) |
Q447L |
probably benign |
Het |
Herpud1 |
C |
T |
8: 95,116,041 (GRCm39) |
L69F |
probably damaging |
Het |
Hnrnpa3 |
A |
G |
2: 75,495,584 (GRCm39) |
Y365C |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,272,128 (GRCm39) |
V553E |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,986,212 (GRCm39) |
Y38H |
probably damaging |
Het |
Klk1b21 |
A |
G |
7: 43,755,100 (GRCm39) |
I132V |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,365,001 (GRCm39) |
S1252P |
possibly damaging |
Het |
Lct |
T |
A |
1: 128,214,414 (GRCm39) |
D1786V |
probably damaging |
Het |
Lrig2 |
T |
A |
3: 104,368,873 (GRCm39) |
M572L |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,408,813 (GRCm39) |
V1710I |
possibly damaging |
Het |
Mmp12 |
C |
A |
9: 7,353,000 (GRCm39) |
S250R |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,479,615 (GRCm39) |
D1226G |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,069,575 (GRCm39) |
I755T |
possibly damaging |
Het |
Nup210l |
T |
C |
3: 90,081,677 (GRCm39) |
L1003P |
probably damaging |
Het |
Or11h23 |
G |
A |
14: 50,948,324 (GRCm39) |
C179Y |
probably damaging |
Het |
Or1af1 |
T |
C |
2: 37,109,777 (GRCm39) |
I92T |
possibly damaging |
Het |
Or52e8b |
A |
T |
7: 104,674,184 (GRCm39) |
M1K |
probably null |
Het |
Palmd |
T |
A |
3: 116,717,481 (GRCm39) |
M339L |
probably benign |
Het |
Phtf1 |
T |
A |
3: 103,898,491 (GRCm39) |
N307K |
probably benign |
Het |
Ppp2r3c |
T |
C |
12: 55,335,411 (GRCm39) |
I243V |
probably benign |
Het |
Ptafr |
A |
G |
4: 132,306,646 (GRCm39) |
E12G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,378,042 (GRCm39) |
N463K |
probably benign |
Het |
Sgcb |
T |
C |
5: 73,801,748 (GRCm39) |
N39S |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,799,700 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slfn8 |
C |
A |
11: 82,895,042 (GRCm39) |
S588I |
probably damaging |
Het |
Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
Top2a |
C |
T |
11: 98,913,202 (GRCm39) |
V77I |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vrk1 |
A |
G |
12: 106,018,024 (GRCm39) |
K98E |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,322 (GRCm39) |
T931I |
possibly damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,246,598 (GRCm39) |
L895H |
probably damaging |
Het |
Zfp101 |
T |
C |
17: 33,601,318 (GRCm39) |
E108G |
probably benign |
Het |
Zfp609 |
A |
G |
9: 65,610,137 (GRCm39) |
V942A |
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 |
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'- CCATGAGCAGAGTTTCCGAG -3'
(R):5'- AGGTAGGCCTGGTCTTTCTC -3'
Sequencing Primer
(F):5'- TGAGGACCGCACAGAGCTAC -3'
(R):5'- TCTGCAATACCAGCCTGC -3'
|
Posted On |
2016-10-05 |