Incidental Mutation 'IGL00559:H60b'
| ID |
11202 |
| 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: 0.078)
|
| Stock # |
IGL00559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
22149373-22164748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22161692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 60
(H60R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105522]
[ENSMUST00000131558]
[ENSMUST00000178026]
|
| AlphaFold |
B1B212 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105522
AA Change: H60R
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
AA Change: H60R
| 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: ENSMUST00000131558
AA Change: H60R
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117032
Gene: ENSMUSG00000075297
AA Change: H60R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cers4 |
G |
A |
8: 4,571,216 (GRCm39) |
D262N |
probably benign |
Het |
| Cyp2d26 |
G |
A |
15: 82,675,244 (GRCm39) |
A370V |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,846,449 (GRCm39) |
M4000T |
possibly damaging |
Het |
| Enkd1 |
C |
T |
8: 106,430,974 (GRCm39) |
|
probably benign |
Het |
| Hmgb4 |
T |
C |
4: 128,154,082 (GRCm39) |
N162S |
probably benign |
Het |
| Htt |
T |
C |
5: 35,006,448 (GRCm39) |
|
probably benign |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,688 (GRCm39) |
D461G |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,425,166 (GRCm39) |
L62P |
possibly damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,908,790 (GRCm39) |
F205L |
probably damaging |
Het |
| Polr1b |
G |
T |
2: 128,955,651 (GRCm39) |
V521F |
probably damaging |
Het |
| Prn |
G |
A |
2: 131,795,335 (GRCm39) |
V152I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,711,667 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
T |
5: 17,899,858 (GRCm39) |
G450V |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,613,189 (GRCm39) |
R422K |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,515,501 (GRCm39) |
D16G |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,484 (GRCm39) |
I163V |
probably benign |
Het |
|
| Other mutations in H60b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:H60b
|
APN |
10 |
22,162,962 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
2012-12-06 |
Incidental Mutation