Incidental Mutation 'R5265:Cant1'
ID 401668
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 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118297115-118309912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118298876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 296 (R296C)
Ref Sequence ENSEMBL: ENSMUSP00000126919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017620] [ENSMUST00000092378] [ENSMUST00000106287] [ENSMUST00000106288] [ENSMUST00000106289] [ENSMUST00000164927]
AlphaFold Q8VCF1
Predicted Effect probably damaging
Transcript: ENSMUST00000017620
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575
AA Change: R296C

DomainStartEndE-ValueType
Pfam:Apyrase 115 403 7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092378
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575
AA Change: R296C

DomainStartEndE-ValueType
Pfam:Apyrase 115 403 7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106287
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575
AA Change: R296C

DomainStartEndE-ValueType
Pfam:Apyrase 115 403 7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106288
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575
AA Change: R296C

DomainStartEndE-ValueType
Pfam:Apyrase 115 403 7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106289
AA Change: R333C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: R333C

DomainStartEndE-ValueType
Pfam:Apyrase 115 216 6.3e-39 PFAM
Pfam:Apyrase 244 440 3.4e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164927
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575
AA Change: R296C

DomainStartEndE-ValueType
Pfam:Apyrase 115 403 7e-140 PFAM
Meta Mutation Damage Score 0.8628 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging Het
Other mutations in Cant1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5281:Cant1 UTSW 11 118,299,696 (GRCm39) missense probably damaging 0.99
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'- AGAGCCACGATGATCTGGTC -3'
(R):5'- ACTCAGTGTAGCTTTCTGGCTG -3'

Sequencing Primer
(F):5'- ATGATCTGGTCATCCGTGTTG -3'
(R):5'- GGCTGCATGGTTGTCCC -3'
Posted On 2016-07-06