Incidental Mutation 'IGL01463:Clvs1'
| ID |
88040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clvs1
|
| Ensembl Gene |
ENSMUSG00000041216 |
| Gene Name |
clavesin 1 |
| Synonyms |
4933402J24Rik, Rlbp1l1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01463
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
9269293-9451691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9429818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 274
(T274A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038841]
[ENSMUST00000108348]
|
| AlphaFold |
Q9D4C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038841
AA Change: T274A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: T274A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
72 |
97 |
5.34e-6 |
SMART |
|
SEC14
|
118 |
276 |
1.98e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108348
AA Change: T274A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: T274A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
72 |
97 |
5.34e-6 |
SMART |
|
SEC14
|
118 |
276 |
1.98e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155578
|
| 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 |
|---|
| Adam22 |
T |
C |
5: 8,142,790 (GRCm39) |
D773G |
probably damaging |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,422 (GRCm39) |
C172F |
probably damaging |
Het |
| Fam83h |
G |
T |
15: 75,875,637 (GRCm39) |
R567S |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,520,405 (GRCm39) |
|
probably null |
Het |
| Gmds |
A |
T |
13: 32,418,341 (GRCm39) |
Y48N |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,707,640 (GRCm39) |
R578H |
probably damaging |
Het |
| Pcna |
A |
T |
2: 132,093,349 (GRCm39) |
Y133N |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,139,646 (GRCm39) |
I126T |
probably damaging |
Het |
| Sdr16c6 |
C |
T |
4: 4,063,238 (GRCm39) |
G179D |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,786,203 (GRCm39) |
G406S |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,150 (GRCm39) |
N269K |
probably damaging |
Het |
|
| Other mutations in Clvs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Clvs1
|
APN |
4 |
9,281,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Clvs1
|
APN |
4 |
9,281,559 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL03031:Clvs1
|
APN |
4 |
9,449,385 (GRCm39) |
splice site |
probably benign |
|
|
R0472:Clvs1
|
UTSW |
4 |
9,281,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Clvs1
|
UTSW |
4 |
9,424,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Clvs1
|
UTSW |
4 |
9,282,003 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1541:Clvs1
|
UTSW |
4 |
9,281,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1992:Clvs1
|
UTSW |
4 |
9,281,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2901:Clvs1
|
UTSW |
4 |
9,281,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2902:Clvs1
|
UTSW |
4 |
9,281,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4321:Clvs1
|
UTSW |
4 |
9,282,029 (GRCm39) |
intron |
probably benign |
|
|
R4934:Clvs1
|
UTSW |
4 |
9,424,216 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4946:Clvs1
|
UTSW |
4 |
9,281,831 (GRCm39) |
nonsense |
probably null |
|
|
R4970:Clvs1
|
UTSW |
4 |
9,350,857 (GRCm39) |
intron |
probably benign |
|
|
R5187:Clvs1
|
UTSW |
4 |
9,281,865 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5327:Clvs1
|
UTSW |
4 |
9,424,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Clvs1
|
UTSW |
4 |
9,281,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5940:Clvs1
|
UTSW |
4 |
9,449,443 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6818:Clvs1
|
UTSW |
4 |
9,282,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6857:Clvs1
|
UTSW |
4 |
9,449,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7692:Clvs1
|
UTSW |
4 |
9,350,739 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8247:Clvs1
|
UTSW |
4 |
9,281,885 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8791:Clvs1
|
UTSW |
4 |
9,429,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Clvs1
|
UTSW |
4 |
9,429,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-18 |
Incidental Mutation