Incidental Mutation 'IGL01771:Rhbdd1'
| ID |
153850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhbdd1
|
| Ensembl Gene |
ENSMUSG00000026142 |
| Gene Name |
rhomboid domain containing 1 |
| Synonyms |
4930418P06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL01771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
82294178-82423087 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82355313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 248
(D248E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027322]
[ENSMUST00000140020]
|
| AlphaFold |
Q8BHC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027322
AA Change: D248E
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: D248E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rhomboid
|
60 |
213 |
6.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140020
AA Change: D248E
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: D248E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rhomboid
|
59 |
213 |
2.7e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn10 |
T |
A |
1: 92,868,087 (GRCm39) |
W185R |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,919,603 (GRCm39) |
L148P |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,488 (GRCm39) |
C447R |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,137,606 (GRCm39) |
V704D |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,197,150 (GRCm39) |
H221Q |
probably benign |
Het |
| Klk1b8 |
A |
T |
7: 43,604,290 (GRCm39) |
I253L |
probably damaging |
Het |
| Or10aa4-ps1 |
T |
C |
1: 173,878,887 (GRCm39) |
|
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,898,593 (GRCm39) |
T265A |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,490 (GRCm39) |
I221N |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,891 (GRCm39) |
N293S |
probably damaging |
Het |
| Or8k40 |
C |
T |
2: 86,584,626 (GRCm39) |
C152Y |
probably benign |
Het |
| Pdp2 |
A |
T |
8: 105,320,754 (GRCm39) |
Y201F |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,036,094 (GRCm39) |
I1112K |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,353,624 (GRCm39) |
I378T |
probably damaging |
Het |
| Sec14l5 |
T |
C |
16: 4,996,494 (GRCm39) |
|
probably null |
Het |
| Sel1l3 |
T |
G |
5: 53,279,183 (GRCm39) |
D960A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,951 (GRCm39) |
Y293H |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,744,185 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
C |
5: 137,391,330 (GRCm39) |
N4718S |
unknown |
Het |
| Zfyve16 |
T |
C |
13: 92,658,680 (GRCm39) |
I410M |
probably benign |
Het |
|
| Other mutations in Rhbdd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Rhbdd1
|
APN |
1 |
82,318,165 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00957:Rhbdd1
|
APN |
1 |
82,318,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Rhbdd1
|
APN |
1 |
82,318,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL02654:Rhbdd1
|
APN |
1 |
82,320,504 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0167:Rhbdd1
|
UTSW |
1 |
82,320,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2005:Rhbdd1
|
UTSW |
1 |
82,318,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2875:Rhbdd1
|
UTSW |
1 |
82,346,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2876:Rhbdd1
|
UTSW |
1 |
82,346,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4058:Rhbdd1
|
UTSW |
1 |
82,348,102 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5572:Rhbdd1
|
UTSW |
1 |
82,318,531 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6526:Rhbdd1
|
UTSW |
1 |
82,318,380 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation