Incidental Mutation 'R5146:H2-T9'
| ID |
395129 |
| 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 |
042730-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R5146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36349299-36432318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36439907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 76
(W76R)
|
| 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: W76R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: W76R
| 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: W76R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: W76R
| 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: W76R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: W76R
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
| Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
| Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
| Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
| Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
| Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
| Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
| Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTCAGTGAGTTCGTGAG -3'
(R):5'- GAAGCGAGTTGTCCTGTCTC -3'
Sequencing Primer
(F):5'- AGGGGACGTGACCTCTGAC -3'
(R):5'- ATCTCCAGGTCTGCGCAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation