Incidental Mutation 'R5281:Cant1'
| ID |
402795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cant1
|
| Ensembl Gene |
ENSMUSG00000025575 |
| Gene Name |
calcium activated nucleotidase 1 |
| Synonyms |
SCAN-1, D11Bwg0554e, Shapy, 5830420C20Rik, Apy1h |
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118297115-118309912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118299696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 255
(W255R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017620]
[ENSMUST00000092378]
[ENSMUST00000106287]
[ENSMUST00000106288]
[ENSMUST00000106289]
[ENSMUST00000164927]
|
| AlphaFold |
Q8VCF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017620
AA Change: W218R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
403 |
7e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092378
AA Change: W218R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
403 |
7e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106287
AA Change: W218R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
403 |
7e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106288
AA Change: W218R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
403 |
7e-140 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106289
AA Change: W255R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: W255R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
216 |
6.3e-39 |
PFAM |
|
Pfam:Apyrase
|
244 |
440 |
3.4e-92 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164927
AA Change: W218R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apyrase
|
115 |
403 |
7e-140 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a calcium-dependent nucleotidase that preferentially hydrolyzes UDP, GDP, and IDP. The encoded protein has low activity with ADP and ATP and shows no activity with AMP and GMP. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,552 (GRCm39) |
S254P |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,347,883 (GRCm39) |
Y752H |
possibly damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,527 (GRCm39) |
Q89* |
probably null |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,105,946 (GRCm39) |
M266T |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,243,165 (GRCm39) |
V600E |
probably benign |
Het |
|
| Other mutations in Cant1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02927:Cant1
|
APN |
11 |
118,301,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02989:Cant1
|
APN |
11 |
118,302,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Cant1
|
UTSW |
11 |
118,302,091 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0535:Cant1
|
UTSW |
11 |
118,301,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Cant1
|
UTSW |
11 |
118,299,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Cant1
|
UTSW |
11 |
118,302,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Cant1
|
UTSW |
11 |
118,299,667 (GRCm39) |
nonsense |
probably null |
|
|
R3916:Cant1
|
UTSW |
11 |
118,299,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4065:Cant1
|
UTSW |
11 |
118,298,823 (GRCm39) |
missense |
probably benign |
|
|
R4786:Cant1
|
UTSW |
11 |
118,299,665 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4847:Cant1
|
UTSW |
11 |
118,300,936 (GRCm39) |
nonsense |
probably null |
|
|
R5093:Cant1
|
UTSW |
11 |
118,302,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Cant1
|
UTSW |
11 |
118,298,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Cant1
|
UTSW |
11 |
118,302,268 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5614:Cant1
|
UTSW |
11 |
118,299,569 (GRCm39) |
missense |
probably benign |
|
|
R6705:Cant1
|
UTSW |
11 |
118,298,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Cant1
|
UTSW |
11 |
118,302,291 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7707:Cant1
|
UTSW |
11 |
118,301,724 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7982:Cant1
|
UTSW |
11 |
118,300,968 (GRCm39) |
missense |
probably benign |
|
|
R9034:Cant1
|
UTSW |
11 |
118,302,128 (GRCm39) |
missense |
probably benign |
|
|
R9463:Cant1
|
UTSW |
11 |
118,302,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCGTCTTACCTGGTGGTCG -3'
(R):5'- TGTGGCTCTACAGTGGTCAC -3'
Sequencing Primer
(F):5'- CTTACCTGGTGGTCGGATCC -3'
(R):5'- TCACACGTGACAGGGCTCTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation