Incidental Mutation 'R3827:H2-Q6'
ID |
273825 |
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 |
040775-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.376)
|
Stock # |
R3827 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35643826-35649031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35644655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 148
(N148I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113879]
[ENSMUST00000174699]
|
AlphaFold |
P79568 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113879
AA Change: N148I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109511 Gene: ENSMUSG00000073409 AA Change: N148I
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 damaging
Transcript: ENSMUST00000174699
AA Change: N148I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134550 Gene: ENSMUSG00000073409 AA Change: N148I
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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
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 |
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 |
R5100:H2-Q6
|
UTSW |
17 |
35,644,296 (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 |
PCR Primer
(F):5'- CCCTTTCAGTTTGGAGGAGTC -3'
(R):5'- TCTTCTTCCCCAGGACTGAG -3'
Sequencing Primer
(F):5'- GAGGAGTCCGCGGTGGG -3'
(R):5'- AGAGGGAGGAGCTGCCC -3'
|
Posted On |
2015-04-02 |