Incidental Mutation 'IGL00593:H60b'
| ID |
4757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H60b
|
| Ensembl Gene |
ENSMUSG00000075297 |
| Gene Name |
histocompatibility 60b |
| Synonyms |
EG667281 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
22149373-22164748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22162962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 179
(I179T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105522]
[ENSMUST00000131558]
[ENSMUST00000178026]
|
| AlphaFold |
B1B212 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105522
AA Change: I179T
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PDB:4G59|B
|
29 |
195 |
2e-9 |
PDB |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131558
AA Change: I179T
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117032
Gene: ENSMUSG00000075297
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PDB:4G59|B
|
29 |
195 |
2e-9 |
PDB |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178026
|
| SMART Domains |
Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
7.3e-112 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181532
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,719 (GRCm39) |
K118* |
probably null |
Het |
| Akap14 |
A |
T |
X: 36,414,484 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Crb1 |
T |
C |
1: 139,250,983 (GRCm39) |
I323V |
probably benign |
Het |
| Krt34 |
A |
G |
11: 99,929,520 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,873,350 (GRCm39) |
N541D |
possibly damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,936 (GRCm39) |
I1841F |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,147,205 (GRCm39) |
D3G |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,626 (GRCm39) |
T1829A |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,307 (GRCm39) |
F468L |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,053,173 (GRCm39) |
E1301G |
probably damaging |
Het |
| Tpd52l2 |
A |
T |
2: 181,141,689 (GRCm39) |
D24V |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,490 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,124,731 (GRCm39) |
C580* |
probably null |
Het |
| Zfp422 |
C |
A |
6: 116,603,919 (GRCm39) |
A27S |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,605 (GRCm39) |
*778R |
probably null |
Het |
|
| Other mutations in H60b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:H60b
|
APN |
10 |
22,161,692 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01348:H60b
|
APN |
10 |
22,162,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0048:H60b
|
UTSW |
10 |
22,163,130 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2038:H60b
|
UTSW |
10 |
22,162,114 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4773:H60b
|
UTSW |
10 |
22,164,644 (GRCm39) |
intron |
probably benign |
|
|
R4916:H60b
|
UTSW |
10 |
22,163,115 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5622:H60b
|
UTSW |
10 |
22,159,441 (GRCm39) |
intron |
probably benign |
|
|
R6209:H60b
|
UTSW |
10 |
22,163,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6962:H60b
|
UTSW |
10 |
22,162,053 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7712:H60b
|
UTSW |
10 |
22,161,637 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7936:H60b
|
UTSW |
10 |
22,162,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8030:H60b
|
UTSW |
10 |
22,163,020 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8284:H60b
|
UTSW |
10 |
22,162,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8519:H60b
|
UTSW |
10 |
22,159,421 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation