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

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118297115-118309912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118302281 bp (GRCm39)

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 (GRCm38)	E25K	probably damaging	Het
Acss2	A	G	2: 155,392,032 (GRCm39)	Y218C	probably benign	Het
Armc8	C	T	9: 99,378,203 (GRCm39)		probably null	Het
Aspg	G	A	12: 112,089,824 (GRCm39)	G454D	probably damaging	Het
Atp9b	T	C	18: 80,809,051 (GRCm39)	T623A		Het
Cacna1e	A	G	1: 154,357,411 (GRCm39)	L655P	probably damaging	Het
Cep63	T	C	9: 102,475,382 (GRCm39)	T445A	probably benign	Het
Clstn1	A	T	4: 149,698,564 (GRCm39)	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Col4a4	T	C	1: 82,431,076 (GRCm39)	M1609V	unknown	Het
Dand5	A	T	8: 85,542,938 (GRCm39)	C179*	probably null	Het
Dbndd1	A	G	8: 124,233,547 (GRCm39)	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,306,454 (GRCm39)	I437V	probably benign	Het
Dnhd1	T	A	7: 105,344,223 (GRCm39)	S1856T	probably benign	Het
Dpp8	T	A	9: 64,973,700 (GRCm39)	Y641*	probably null	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Efl1	C	T	7: 82,426,733 (GRCm39)	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,138,709 (GRCm39)	Q83K	probably benign	Het
Firrm	A	T	1: 163,795,907 (GRCm39)	M428K	probably benign	Het
Gfm2	G	A	13: 97,286,910 (GRCm39)	A170T	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Gmip	G	A	8: 70,269,693 (GRCm39)	R596Q	possibly damaging	Het
Hook1	A	T	4: 95,910,510 (GRCm39)	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,488,526 (GRCm39)	R119C	unknown	Het
Lnpk	A	C	2: 74,381,403 (GRCm39)		probably null	Het
Lrp1	G	T	10: 127,429,334 (GRCm39)	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,285,185 (GRCm39)	P470L	probably damaging	Het
Mapre1	A	G	2: 153,606,960 (GRCm39)	N231D	probably benign	Het
Muc5b	T	A	7: 141,405,503 (GRCm39)	N937K	unknown	Het
Ndufaf7	T	C	17: 79,253,900 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,118,225 (GRCm39)	I650F	probably benign	Het
Notch1	T	C	2: 26,359,845 (GRCm39)	D1290G	probably benign	Het
Or7g27	C	T	9: 19,250,320 (GRCm39)	A188V	possibly damaging	Het
Or8b46	T	C	9: 38,450,665 (GRCm39)	I158T	probably damaging	Het
Orc4	C	T	2: 48,826,783 (GRCm39)		probably null	Het
Plekhm2	A	G	4: 141,357,949 (GRCm39)	V664A	probably benign	Het
Pom121l2	T	G	13: 22,168,402 (GRCm39)	I891S	probably benign	Het
Prkcsh	T	C	9: 21,923,982 (GRCm39)	Y425H	probably damaging	Het
Prps1l1	A	C	12: 35,035,559 (GRCm39)	T225P	probably damaging	Het
Prr18	T	G	17: 8,560,324 (GRCm39)	V160G	probably damaging	Het
Psd2	T	A	18: 36,143,798 (GRCm39)	F701L	probably damaging	Het
Sclt1	T	C	3: 41,601,931 (GRCm39)	E593G	probably damaging	Het
Sdk1	T	C	5: 141,948,548 (GRCm39)	I631T	probably benign	Het
Sirt1	A	T	10: 63,171,487 (GRCm39)	D231E	probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,624,974 (GRCm39)	N274I	probably damaging	Het
Spocd1	A	G	4: 129,847,398 (GRCm39)	Q529R		Het
Trarg1	T	A	11: 76,571,098 (GRCm39)	L38Q	probably damaging	Het
Trbv3	T	A	6: 41,025,530 (GRCm39)	L40H	probably damaging	Het
Trpm6	T	C	19: 18,761,264 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ush1g	C	A	11: 115,209,056 (GRCm39)	L379F	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Wee1	T	C	7: 109,721,917 (GRCm39)	S121P	probably damaging	Het
Zfp608	T	C	18: 55,030,274 (GRCm39)	K1222R	probably damaging	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
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

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