Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Cant1'

373325

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

042460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118297115-118309912 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 118300936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 240 (Q240*)

Ref Sequence

ENSEMBL: ENSMUSP00000101896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017620] [ENSMUST00000092378] [ENSMUST00000106287] [ENSMUST00000106288] [ENSMUST00000106289] [ENSMUST00000164927]

AlphaFold

Q8VCF1

Predicted Effect

probably benign
Transcript: ENSMUST00000017620

SMART Domains

Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092378

SMART Domains

Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106287

SMART Domains

Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106288

SMART Domains

Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575

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

Predicted Effect

probably null
Transcript: ENSMUST00000106289
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: Q240*

Domain	Start	End	E-Value	Type
Pfam:Apyrase	115	216	6.3e-39	PFAM
Pfam:Apyrase	244	440	3.4e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164927

SMART Domains

Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,264,940 (GRCm39)	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786 (GRCm39)	S328P	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625 (GRCm39)	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,958 (GRCm39)	Q257*	probably null	Het
Ankrd12	A	T	17: 66,331,087 (GRCm39)	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266 (GRCm39)	T600A	probably benign	Het
Ap3b1	A	G	13: 94,608,287 (GRCm39)	E586G	probably benign	Het
Atad2b	A	G	12: 4,994,901 (GRCm39)		probably null	Het
Cep152	T	C	2: 125,460,394 (GRCm39)	Y186C	possibly damaging	Het
Cep76	C	A	18: 67,752,639 (GRCm39)	R603I	probably benign	Het
Chad	T	C	11: 94,459,153 (GRCm39)	S352P	probably benign	Het
Ckap2	T	C	8: 22,665,084 (GRCm39)	E460G	probably damaging	Het
Col22a1	T	C	15: 71,671,348 (GRCm39)	Y1004C	unknown	Het
Col9a3	G	A	2: 180,257,318 (GRCm39)	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,963,561 (GRCm39)	D430G	probably benign	Het
Cramp1	T	C	17: 25,204,063 (GRCm39)	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,452,396 (GRCm39)	E76*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,549,340 (GRCm39)	N286I	probably damaging	Het
Ddx11	A	G	17: 66,437,796 (GRCm39)	E174G	probably damaging	Het
Ddx19a	T	C	8: 111,703,677 (GRCm39)	E369G	probably damaging	Het
Dnai7	T	A	6: 145,120,911 (GRCm39)	H636L	probably damaging	Het
Epha1	T	A	6: 42,338,848 (GRCm39)	D687V	possibly damaging	Het
Fgr	T	C	4: 132,721,959 (GRCm39)	W132R	probably damaging	Het
Fras1	A	T	5: 96,692,851 (GRCm39)	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,014,173 (GRCm39)	S96P	probably damaging	Het
Gfy	G	A	7: 44,827,020 (GRCm39)	P359S	probably damaging	Het
Hexim2	A	G	11: 103,029,767 (GRCm39)	N273S	probably benign	Het
Hr	A	T	14: 70,793,916 (GRCm39)	T59S	probably benign	Het
Ift70a2	A	T	2: 75,808,058 (GRCm39)	N151K	probably benign	Het
Impdh2	A	G	9: 108,441,870 (GRCm39)	Y166C	probably damaging	Het
Impdh2	T	A	9: 108,442,714 (GRCm39)	F514Y	probably benign	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Klhl17	A	T	4: 156,316,054 (GRCm39)	H433Q	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,940,337 (GRCm39)	N1645T	probably benign	Het
Mcm8	A	G	2: 132,661,923 (GRCm39)	I114V	probably benign	Het
Mink1	T	A	11: 70,492,854 (GRCm39)	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,350,282 (GRCm39)	S27C	probably damaging	Het
Mthfr	T	C	4: 148,132,596 (GRCm39)	V217A	probably damaging	Het
Or5b105	A	G	19: 13,079,898 (GRCm39)	Y257H	probably damaging	Het
Or5p53	T	A	7: 107,533,034 (GRCm39)	C102*	probably null	Het
Pde1c	T	C	6: 56,100,019 (GRCm39)	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,671,577 (GRCm39)	E407V	probably damaging	Het
Pdzph1	A	G	17: 59,280,525 (GRCm39)	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,167,372 (GRCm39)	R361W	probably benign	Het
Psen2	T	A	1: 180,073,197 (GRCm39)		probably null	Het
Ptk2	T	A	15: 73,103,805 (GRCm39)	M82L	probably benign	Het
Ptk2b	T	C	14: 66,411,331 (GRCm39)	D400G	probably damaging	Het
Samd8	G	A	14: 21,842,503 (GRCm39)	R275Q	possibly damaging	Het
Senp2	A	G	16: 21,857,386 (GRCm39)	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Skap2	T	A	6: 51,980,649 (GRCm39)	I52L	probably benign	Het
Slc5a7	T	C	17: 54,584,168 (GRCm39)	D374G	possibly damaging	Het
Slmap	A	T	14: 26,147,763 (GRCm39)	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,665,706 (GRCm39)	C203G	possibly damaging	Het
Stard9	T	C	2: 120,533,594 (GRCm39)	S3284P	probably benign	Het
Tbx21	T	C	11: 97,005,857 (GRCm39)	Y36C	probably damaging	Het
Tecpr2	A	G	12: 110,906,311 (GRCm39)	Y971C	probably damaging	Het
Trpm5	T	A	7: 142,641,500 (GRCm39)	I137F	possibly damaging	Het
Unk	A	G	11: 115,945,232 (GRCm39)	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,981 (GRCm39)	D193G	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
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
R9463:Cant1	UTSW	11	118,302,281 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTTTTATCACCCAGGCAGG -3'
(R):5'- CCTTGTCATGTCTTCAGAGGTG -3'

Sequencing Primer
(F):5'- CAGGGCTGGGCAGACAGTAC -3'
(R):5'- CTTCAGAGGTGTCTTAGGATCACAC -3'

Posted On

2016-03-01