Incidental Mutation 'R5100:H2-Q6'
ID |
388239 |
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 |
042689-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
R5100 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35643826-35649031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 35644296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 93
(E93Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113879]
[ENSMUST00000174699]
|
AlphaFold |
P79568 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113879
AA Change: E93Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000109511 Gene: ENSMUSG00000073409 AA Change: E93Q
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 benign
Transcript: ENSMUST00000174699
AA Change: E93Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134550 Gene: ENSMUSG00000073409 AA Change: E93Q
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
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 |
R3810:H2-Q6
|
UTSW |
17 |
35,644,757 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Posted On |
2016-06-06 |