Incidental Mutation 'R6628:H2-T9'
ID |
524942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T9
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 9 |
Synonyms |
H-2T9, H2-T25, Gm7030 |
MMRRC Submission |
044750-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R6628 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36349299-36432318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36439946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 63
(S63G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046131]
[ENSMUST00000172968]
[ENSMUST00000173128]
[ENSMUST00000173322]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046131
AA Change: S63G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000040558 Gene: ENSMUSG00000092243 AA Change: S63G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172968
AA Change: S63G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133748 Gene: ENSMUSG00000092243 AA Change: S63G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
1.5e-80 |
PFAM |
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173128
|
SMART Domains |
Protein: ENSMUSP00000134339 Gene: ENSMUSG00000092277
Domain | Start | End | E-Value | Type |
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173322
AA Change: S63G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133734 Gene: ENSMUSG00000092243 AA Change: S63G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
A |
C |
16: 85,592,713 (GRCm39) |
M565R |
probably benign |
Het |
Cd4 |
A |
G |
6: 124,856,431 (GRCm39) |
L20P |
unknown |
Het |
Chrm2 |
G |
T |
6: 36,500,292 (GRCm39) |
V50F |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,725,788 (GRCm39) |
T828A |
probably damaging |
Het |
Clec4a4 |
A |
G |
6: 122,989,763 (GRCm39) |
K135E |
probably benign |
Het |
Clmn |
T |
C |
12: 104,740,045 (GRCm39) |
R961G |
probably damaging |
Het |
Cyp2s1 |
T |
C |
7: 25,514,466 (GRCm39) |
K64E |
probably benign |
Het |
Dagla |
T |
C |
19: 10,240,591 (GRCm39) |
D213G |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,351,598 (GRCm39) |
E139V |
possibly damaging |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,267,246 (GRCm39) |
D928E |
probably benign |
Het |
Gulo |
T |
C |
14: 66,241,619 (GRCm39) |
K80E |
probably benign |
Het |
Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Homo |
Kif27 |
A |
T |
13: 58,502,611 (GRCm39) |
H22Q |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,503,926 (GRCm39) |
D383G |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,111,503 (GRCm39) |
E741G |
probably benign |
Het |
Mphosph9 |
G |
T |
5: 124,436,825 (GRCm39) |
N506K |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,620,638 (GRCm39) |
S1674P |
probably damaging |
Het |
Or5h26 |
T |
C |
16: 58,988,344 (GRCm39) |
H54R |
probably benign |
Het |
Or8j3c |
T |
G |
2: 86,253,361 (GRCm39) |
N220H |
probably benign |
Het |
Pdcd10 |
A |
G |
3: 75,428,378 (GRCm39) |
V82A |
probably damaging |
Het |
Ptpn11 |
G |
T |
5: 121,272,892 (GRCm39) |
|
probably null |
Het |
Pxdn |
T |
C |
12: 30,049,917 (GRCm39) |
L475P |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,040,236 (GRCm39) |
D781G |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,043,236 (GRCm39) |
T751A |
probably benign |
Het |
Tbx18 |
A |
T |
9: 87,597,588 (GRCm39) |
Y315* |
probably null |
Het |
Wrap53 |
T |
C |
11: 69,452,970 (GRCm39) |
K446E |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,661,963 (GRCm39) |
|
probably null |
Het |
|
Other mutations in H2-T9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02997:H2-T9
|
APN |
17 |
36,438,728 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03154:H2-T9
|
APN |
17 |
36,438,767 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03170:H2-T9
|
APN |
17 |
36,439,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:H2-T9
|
APN |
17 |
36,438,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:H2-T9
|
UTSW |
17 |
36,439,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R0666:H2-T9
|
UTSW |
17 |
36,438,726 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1981:H2-T9
|
UTSW |
17 |
36,439,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R1982:H2-T9
|
UTSW |
17 |
36,439,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R3110:H2-T9
|
UTSW |
17 |
36,440,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:H2-T9
|
UTSW |
17 |
36,440,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R4811:H2-T9
|
UTSW |
17 |
36,438,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R5023:H2-T9
|
UTSW |
17 |
36,420,307 (GRCm39) |
unclassified |
probably benign |
|
R5146:H2-T9
|
UTSW |
17 |
36,439,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R5802:H2-T9
|
UTSW |
17 |
36,422,179 (GRCm39) |
intron |
probably benign |
|
R7123:H2-T9
|
UTSW |
17 |
36,438,686 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7244:H2-T9
|
UTSW |
17 |
36,438,496 (GRCm39) |
splice site |
probably null |
|
R7880:H2-T9
|
UTSW |
17 |
36,438,761 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8118:H2-T9
|
UTSW |
17 |
36,438,582 (GRCm39) |
missense |
probably damaging |
0.97 |
R8926:H2-T9
|
UTSW |
17 |
36,420,626 (GRCm39) |
critical splice acceptor site |
probably null |
|
V1662:H2-T9
|
UTSW |
17 |
36,439,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCAGTGAGTTCGTGAGG -3'
(R):5'- AAGCGAGTTGTCCTGTCTCC -3'
Sequencing Primer
(F):5'- ACGTGACCTCTGACACTCG -3'
(R):5'- GCTCATCTCCAGGTCTGCG -3'
|
Posted On |
2018-06-22 |