Incidental Mutation 'IGL00768:Khdc1b'
| ID |
11600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Khdc1b
|
| Ensembl Gene |
ENSMUSG00000085079 |
| Gene Name |
KH domain containing 1B |
| Synonyms |
Khdc1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
21453780-21456597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21454405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 36
(D36V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147615]
|
| AlphaFold |
P0C7A0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147615
AA Change: D36V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,766,409 (GRCm39) |
V888I |
probably benign |
Het |
| Apob |
A |
T |
12: 8,052,107 (GRCm39) |
N1170Y |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,461,012 (GRCm39) |
D213G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,659,611 (GRCm39) |
S445G |
probably benign |
Het |
| Dgkb |
A |
C |
12: 38,477,478 (GRCm39) |
E629D |
probably benign |
Het |
| Gabra3 |
T |
C |
X: 71,519,903 (GRCm39) |
H188R |
probably benign |
Het |
| Gak |
G |
T |
5: 108,724,520 (GRCm39) |
H1063Q |
probably benign |
Het |
| Gm382 |
C |
T |
X: 125,968,366 (GRCm39) |
Q184* |
probably null |
Het |
| Gpr160 |
T |
A |
3: 30,950,098 (GRCm39) |
Y57N |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,635,111 (GRCm39) |
V385A |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,055,029 (GRCm39) |
|
probably null |
Het |
| Tmpo |
G |
A |
10: 91,000,068 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,593,998 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Khdc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Khdc1b
|
APN |
1 |
21,454,578 (GRCm39) |
nonsense |
probably null |
|
|
R2057:Khdc1b
|
UTSW |
1 |
21,454,534 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2415:Khdc1b
|
UTSW |
1 |
21,454,534 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3944:Khdc1b
|
UTSW |
1 |
21,455,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7729:Khdc1b
|
UTSW |
1 |
21,455,065 (GRCm39) |
missense |
probably benign |
|
|
R9001:Khdc1b
|
UTSW |
1 |
21,454,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-12-06 |
Incidental Mutation