Incidental Mutation 'IGL03154:H2-T9'
ID |
411181 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-T9
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 9 |
Synonyms |
H-2T9, H2-T25, Gm7030 |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL03154
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36349299-36432318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36438767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 208
(N208I)
|
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 |
probably benign
Transcript: ENSMUST00000046131
AA Change: N208I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000040558 Gene: ENSMUSG00000092243 AA Change: N208I
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 |
probably benign
Transcript: ENSMUST00000172968
AA Change: N208I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133748 Gene: ENSMUSG00000092243 AA Change: N208I
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 |
probably benign
Transcript: ENSMUST00000173322
AA Change: N208I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133734 Gene: ENSMUSG00000092243 AA Change: N208I
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,608,132 (GRCm39) |
E318G |
probably benign |
Het |
Alpi |
A |
T |
1: 87,027,810 (GRCm39) |
W257R |
probably damaging |
Het |
Arap2 |
T |
C |
5: 62,800,268 (GRCm39) |
E1253G |
probably damaging |
Het |
Fbxw13 |
G |
T |
9: 109,010,533 (GRCm39) |
F368L |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,851,907 (GRCm39) |
D3655E |
probably damaging |
Het |
Hkdc1 |
T |
A |
10: 62,221,484 (GRCm39) |
D858V |
probably damaging |
Het |
Ifi205 |
A |
C |
1: 173,845,232 (GRCm39) |
|
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,507 (GRCm39) |
M1L |
probably benign |
Het |
Igkv4-90 |
C |
T |
6: 68,784,256 (GRCm39) |
G87R |
probably damaging |
Het |
Insc |
G |
A |
7: 114,441,424 (GRCm39) |
G413S |
probably null |
Het |
Iqch |
T |
A |
9: 63,361,964 (GRCm39) |
T850S |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
Lhx6 |
A |
T |
2: 35,984,455 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,379,386 (GRCm39) |
S109P |
probably damaging |
Het |
Mroh1 |
T |
C |
15: 76,337,038 (GRCm39) |
L1617P |
probably damaging |
Het |
Or11g24 |
A |
T |
14: 50,662,080 (GRCm39) |
I35F |
probably benign |
Het |
Or1j17 |
A |
T |
2: 36,578,655 (GRCm39) |
I214F |
possibly damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,072 (GRCm39) |
V220D |
possibly damaging |
Het |
Or52b3 |
G |
T |
7: 102,203,913 (GRCm39) |
V141L |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,223,857 (GRCm39) |
V727A |
possibly damaging |
Het |
Ralgapb |
A |
G |
2: 158,274,786 (GRCm39) |
H229R |
probably damaging |
Het |
Rusc2 |
G |
A |
4: 43,425,806 (GRCm39) |
G1304S |
probably benign |
Het |
Sbsn |
A |
G |
7: 30,451,153 (GRCm39) |
N56S |
possibly damaging |
Het |
Skint8 |
T |
A |
4: 111,796,707 (GRCm39) |
|
probably null |
Het |
Tasor2 |
A |
T |
13: 3,625,255 (GRCm39) |
M1565K |
possibly damaging |
Het |
Uso1 |
C |
A |
5: 92,328,477 (GRCm39) |
S358* |
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 |
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 |
|
R6628:H2-T9
|
UTSW |
17 |
36,439,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
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 |
|
Posted On |
2016-08-02 |