Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Cant1'

715019

Institutional Source

Beutler Lab

Gene Symbol

Cant1

Ensembl Gene

ENSMUSG00000025575

Gene Name

calcium activated nucleotidase 1

Synonyms

5830420C20Rik, D11Bwg0554e, SCAN-1, Apy1h, Shapy

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118406289-118419086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118411455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 12 (N12I)

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: N12I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575
AA Change: N12I

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	403	7e-140	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092378
AA Change: N12I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575
AA Change: N12I

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	403	7e-140	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106287
AA Change: N12I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575
AA Change: N12I

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	403	7e-140	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106288
AA Change: N12I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575
AA Change: N12I

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	403	7e-140	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106289
AA Change: N12I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: N12I

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: N12I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575
AA Change: N12I

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	403	7e-140	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789	E25K	probably damaging	Het
Acss2	A	G	2: 155,550,112	Y218C	probably benign	Het
Armc8	C	T	9: 99,496,150		probably null	Het
Aspg	G	A	12: 112,123,390	G454D	probably damaging	Het
Atp9b	T	C	18: 80,765,836	T623A		Het
BC055324	A	T	1: 163,968,338	M428K	probably benign	Het
Cacna1e	A	G	1: 154,481,665	L655P	probably damaging	Het
Cep63	T	C	9: 102,598,183	T445A	probably benign	Het
Clstn1	A	T	4: 149,614,107	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,762,551	I260N	probably damaging	Het
Col4a4	T	C	1: 82,453,355	M1609V	unknown	Het
Dand5	A	T	8: 84,816,309	C179*	probably null	Het
Dbndd1	A	G	8: 123,506,808	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,657,247	I437V	probably benign	Het
Dnhd1	T	A	7: 105,695,016	S1856T	probably benign	Het
Dpp8	T	A	9: 65,066,418	Y641*	probably null	Het
Dthd1	G	A	5: 62,882,283	R676H	probably benign	Het
Efl1	C	T	7: 82,777,525	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,275,313	Q83K	probably benign	Het
Gfm2	G	A	13: 97,150,402	A170T	probably damaging	Het
Gm14496	T	A	2: 182,000,463	H642Q	probably benign	Het
Gmip	G	A	8: 69,817,043	R596Q	possibly damaging	Het
Hook1	A	T	4: 96,022,273	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,597,700	R119C	unknown	Het
Lnpk	A	C	2: 74,551,059		probably null	Het
Lrp1	G	T	10: 127,593,465	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,235,185	P470L	probably damaging	Het
Mapre1	A	G	2: 153,765,040	N231D	probably benign	Het
Muc5b	T	A	7: 141,851,766	N937K	unknown	Het
Ndufaf7	T	C	17: 78,946,471		probably null	Het
Nlrp5	A	T	7: 23,418,800	I650F	probably benign	Het
Notch1	T	C	2: 26,469,833	D1290G	probably benign	Het
Olfr845	C	T	9: 19,339,024	A188V	possibly damaging	Het
Olfr910	T	C	9: 38,539,369	I158T	probably damaging	Het
Orc4	C	T	2: 48,936,771		probably null	Het
Plekhm2	A	G	4: 141,630,638	V664A	probably benign	Het
Pom121l2	T	G	13: 21,984,232	I891S	probably benign	Het
Prkcsh	T	C	9: 22,012,686	Y425H	probably damaging	Het
Prps1l1	A	C	12: 34,985,560	T225P	probably damaging	Het
Prr18	T	G	17: 8,341,492	V160G	probably damaging	Het
Psd2	T	A	18: 36,010,745	F701L	probably damaging	Het
Sclt1	T	C	3: 41,647,496	E593G	probably damaging	Het
Sdk1	T	C	5: 141,962,793	I631T	probably benign	Het
Sirt1	A	T	10: 63,335,708	D231E	probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,554,750	N274I	probably damaging	Het
Spocd1	A	G	4: 129,953,605	Q529R		Het
Trbv3	T	A	6: 41,048,596	L40H	probably damaging	Het
Trpm6	T	C	19: 18,783,900		probably null	Het
Ttn	A	G	2: 76,748,175	Y24125H	probably damaging	Het
Tusc5	T	A	11: 76,680,272	L38Q	probably damaging	Het
Ush1g	C	A	11: 115,318,230	L379F	probably damaging	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn2r73	A	T	7: 85,857,587	M839K		Het
Wee1	T	C	7: 110,122,710	S121P	probably damaging	Het
Zfp608	T	C	18: 54,897,202	K1222R	probably damaging	Het

Other mutations in Cant1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02927:Cant1	APN	11	118411062	missense	probably benign	0.01
IGL02989:Cant1	APN	11	118411212	missense	probably damaging	1.00
R0512:Cant1	UTSW	11	118411265	missense	probably benign	0.26
R0535:Cant1	UTSW	11	118411143	missense	probably damaging	1.00
R1953:Cant1	UTSW	11	118408783	missense	probably damaging	1.00
R2154:Cant1	UTSW	11	118411437	missense	probably damaging	1.00
R2187:Cant1	UTSW	11	118408841	nonsense	probably null
R3916:Cant1	UTSW	11	118408746	missense	probably damaging	0.98
R4065:Cant1	UTSW	11	118407997	missense	probably benign
R4786:Cant1	UTSW	11	118408839	missense	possibly damaging	0.68
R4847:Cant1	UTSW	11	118410110	nonsense	probably null
R5093:Cant1	UTSW	11	118411212	missense	probably damaging	1.00
R5265:Cant1	UTSW	11	118408050	missense	probably damaging	1.00
R5281:Cant1	UTSW	11	118408870	missense	probably damaging	0.99
R5506:Cant1	UTSW	11	118411442	missense	probably benign	0.10
R5614:Cant1	UTSW	11	118408743	missense	probably benign
R6705:Cant1	UTSW	11	118407872	missense	probably damaging	1.00
R7538:Cant1	UTSW	11	118411465	missense	possibly damaging	0.81
R7707:Cant1	UTSW	11	118410898	missense	possibly damaging	0.62
R7982:Cant1	UTSW	11	118410142	missense	probably benign
R9034:Cant1	UTSW	11	118411302	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAATTGTGCGCATTGTGG -3'
(R):5'- CTTCATCTGACTACCTGCTGGG -3'

Sequencing Primer
(F):5'- TGCGCATTGTGGGTGGG -3'
(R):5'- TGACTACCTGCTGGGGTCAG -3'

Posted On

2022-06-15