Incidental Mutation 'IGL03229:H2-T9'
| ID |
413802 |
| 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 # |
IGL03229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36349299-36432318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36438614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 259
(G259E)
|
| 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 damaging
Transcript: ENSMUST00000046131
AA Change: G259E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: G259E
| 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 damaging
Transcript: ENSMUST00000172968
AA Change: G259E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: G259E
| 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 damaging
Transcript: ENSMUST00000173322
AA Change: G259E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: G259E
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,455,108 (GRCm39) |
S124P |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
| Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
| Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
| Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
| Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
| Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,830 (GRCm39) |
Y267C |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
| Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
| Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
| Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
| Tor2a |
A |
T |
2: 32,649,704 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ubr7 |
T |
C |
12: 102,735,414 (GRCm39) |
L291P |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
| Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
possibly damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,601 (GRCm39) |
C462R |
probably damaging |
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 |
|
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 |
Incidental Mutation