Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Cant1'

651288

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

046023-MU

Accession Numbers

Essential gene?

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

Stock #

R7982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118297115-118309912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118300968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 229 (V229D)

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 benign
Transcript: ENSMUST00000106289
AA Change: V229D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: V229D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,284 (GRCm39)	S625P	probably damaging	Het
Actl6b	A	G	5: 137,561,424 (GRCm39)	N142S	probably benign	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Aox4	A	C	1: 58,296,400 (GRCm39)	L1032F	possibly damaging	Het
Atosb	T	C	4: 43,034,483 (GRCm39)	T371A	probably damaging	Het
Bcl2l15	T	C	3: 103,740,158 (GRCm39)	M4T	probably damaging	Het
Cand1	A	T	10: 119,052,378 (GRCm39)	S242R	probably damaging	Het
Ccdc117	A	G	11: 5,481,460 (GRCm39)	S224P	possibly damaging	Het
Cdc42ep4	T	C	11: 113,619,402 (GRCm39)	R330G	possibly damaging	Het
Cep164	T	C	9: 45,690,162 (GRCm39)	E527G	probably benign	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Cln6	A	C	9: 62,756,450 (GRCm39)	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,549,162 (GRCm39)		probably benign	Het
Cyp1b1	T	C	17: 80,017,919 (GRCm39)	Y412C	probably damaging	Het
Dhx30	A	T	9: 109,914,524 (GRCm39)	L991Q	probably damaging	Het
Dst	C	T	1: 34,221,621 (GRCm39)	T2475I	possibly damaging	Het
Exoc8	A	T	8: 125,623,149 (GRCm39)	V406E	probably damaging	Het
Grk6	T	A	13: 55,599,519 (GRCm39)	C201S	probably damaging	Het
Helz	T	C	11: 107,517,456 (GRCm39)	V664A	possibly damaging	Het
Hsd17b11	A	G	5: 104,151,090 (GRCm39)	C215R	possibly damaging	Het
Ift25	T	C	4: 107,132,480 (GRCm39)	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,595,616 (GRCm39)	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,421,130 (GRCm39)	H105L	probably benign	Het
Klf6	T	A	13: 5,911,822 (GRCm39)	L62Q	probably damaging	Het
Mc1r	A	G	8: 124,134,879 (GRCm39)	R211G	probably damaging	Het
Nt5m	T	A	11: 59,739,157 (GRCm39)	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,363,679 (GRCm39)	V301A	probably benign	Het
Or10ac1	T	A	6: 42,515,225 (GRCm39)	T244S	probably damaging	Het
Or12d14-ps1	T	G	17: 37,673,502 (GRCm39)	F165V	probably damaging	Het
Or2b7	T	C	13: 21,740,136 (GRCm39)	N19D	probably benign	Het
Or51f5	A	T	7: 102,424,310 (GRCm39)	D193V	probably damaging	Het
Or5ac25	A	G	16: 59,181,927 (GRCm39)	I218T	probably benign	Het
Ostn	T	C	16: 27,140,189 (GRCm39)		probably null	Het
Pcdhb6	C	T	18: 37,467,273 (GRCm39)	R65*	probably null	Het
Pds5b	T	C	5: 150,693,406 (GRCm39)	I706T	probably damaging	Het
Pgm2	T	G	5: 64,258,302 (GRCm39)	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,777,926 (GRCm39)	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,000,764 (GRCm39)	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,646,157 (GRCm39)	D181E	probably benign	Het
Pstpip2	G	A	18: 77,967,073 (GRCm39)	V325M	probably benign	Het
Rras2	A	T	7: 113,658,186 (GRCm39)	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,499,594 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,933,379 (GRCm39)	M188L	probably benign	Het
Synrg	G	A	11: 83,910,644 (GRCm39)	D859N	probably damaging	Het
Tarbp1	A	T	8: 127,171,040 (GRCm39)	S987T	probably damaging	Het
Tbx20	C	A	9: 24,685,220 (GRCm39)		probably benign	Het
Trim30d	G	T	7: 104,121,817 (GRCm39)	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,665,047 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,945,875 (GRCm39)	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,155,519 (GRCm39)		probably null	Het
Uros	A	T	7: 133,294,278 (GRCm39)	S168T	unknown	Het
Vmn2r6	C	T	3: 64,467,241 (GRCm39)	G86D	probably damaging	Het
Ybx2	C	T	11: 69,831,448 (GRCm39)	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,929,321 (GRCm39)	C146S	possibly damaging	Het
Zcchc2	G	A	1: 105,958,901 (GRCm39)	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,510,175 (GRCm39)		probably null	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
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'- GACTTTTATCACCCAGGCAGG -3'
(R):5'- CCTTGTCATGTCTTCAGAGGTG -3'

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

Posted On

2020-09-15