Incidental Mutation 'R2901:Clvs1'
| ID |
261465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clvs1
|
| Ensembl Gene |
ENSMUSG00000041216 |
| Gene Name |
clavesin 1 |
| Synonyms |
4933402J24Rik, Rlbp1l1 |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
9269293-9451691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9281972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 139
(K139E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038841]
[ENSMUST00000108348]
|
| AlphaFold |
Q9D4C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038841
AA Change: K139E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: K139E
| 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 damaging
Transcript: ENSMUST00000108348
AA Change: K139E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: K139E
| 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: ENSMUST00000128117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149848
|
| Meta Mutation Damage Score |
0.1941 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
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 |
|
|
IGL01463:Clvs1
|
APN |
4 |
9,429,818 (GRCm39) |
missense |
probably benign |
0.27 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGAAGTTTCACCAAGC -3'
(R):5'- AAAGTCCAGTGCAACTCAGAGG -3'
Sequencing Primer
(F):5'- GGAAGTTTCACCAAGCCGATGC -3'
(R):5'- GTGCAACTCAGAGGCTATAGTTCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation