Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Cant1'

309767

Institutional Source

Beutler Lab

Gene Symbol

Cant1

Ensembl Gene

ENSMUSG00000025575

Gene Name

calcium activated nucleotidase 1

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118297115-118309912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118299572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 259 (V259A)

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: V259A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575
AA Change: V259A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092378
AA Change: V259A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575
AA Change: V259A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106287
AA Change: V259A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575
AA Change: V259A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106288
AA Change: V259A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575
AA Change: V259A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106289
AA Change: V296A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: V296A

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 damaging
Transcript: ENSMUST00000164927
AA Change: V259A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575
AA Change: V259A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,562,329 (GRCm39)	F319V	possibly damaging	Het
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Anks3	A	G	16: 4,765,143 (GRCm39)	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,259,668 (GRCm39)	V600D	probably benign	Het
Arhgef18	T	C	8: 3,504,197 (GRCm39)	F939L	probably benign	Het
Arhgef2	A	G	3: 88,540,340 (GRCm39)	N127S	probably damaging	Het
Arid1b	A	G	17: 5,392,928 (GRCm39)	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,924,084 (GRCm39)	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,070,101 (GRCm39)	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Cyp4f18	A	T	8: 72,749,881 (GRCm39)	F256Y	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,079,716 (GRCm39)	T377A	probably damaging	Het
F2	G	A	2: 91,455,833 (GRCm39)	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,302,583 (GRCm39)	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,955,925 (GRCm39)		probably null	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Ifi204	T	G	1: 173,583,341 (GRCm39)	K292N	possibly damaging	Het
Itpkc	A	T	7: 26,927,728 (GRCm39)	I62N	probably benign	Het
Kcnab1	G	A	3: 65,211,585 (GRCm39)		probably null	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Larp4	C	T	15: 99,888,284 (GRCm39)	T107I	probably benign	Het
Lmo7	T	C	14: 102,166,778 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,346,344 (GRCm39)	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myh7	C	A	14: 55,211,503 (GRCm39)	E1555D	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Obox3	C	A	7: 15,361,151 (GRCm39)	C38F	probably benign	Het
P4ha2	A	G	11: 54,017,074 (GRCm39)	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,581,598 (GRCm39)	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,167,296 (GRCm39)	V259A	probably damaging	Het
Scn1a	T	C	2: 66,107,957 (GRCm39)	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Sema3b	A	G	9: 107,477,657 (GRCm39)	F482S	probably damaging	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a3	A	G	13: 73,710,427 (GRCm39)	I346V	probably benign	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,970,711 (GRCm39)		probably null	Het
Supv3l1	T	C	10: 62,285,199 (GRCm39)	D89G	possibly damaging	Het
Taf1c	G	A	8: 120,327,244 (GRCm39)	R412W	probably damaging	Het
Tctn3	T	A	19: 40,596,093 (GRCm39)	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tet2	T	C	3: 133,191,816 (GRCm39)	K873E	possibly damaging	Het
Thada	G	A	17: 84,749,210 (GRCm39)	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,782,884 (GRCm39)	N712Y	probably damaging	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Tnrc6a	A	C	7: 122,780,607 (GRCm39)	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Uba5	A	T	9: 103,931,389 (GRCm39)	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc80	T	C	1: 66,716,654 (GRCm39)	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,314,744 (GRCm39)	G331R	probably benign	Het
Xirp2	G	T	2: 67,341,766 (GRCm39)	V1336F	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly 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
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
R9463:Cant1	UTSW	11	118,302,281 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACCTGTTAGGGCTAGCAAGG -3'
(R):5'- TTCTGAACACAGCTGACAGC -3'

Sequencing Primer
(F):5'- CTGTTAGGGCTAGCAAGGGACAG -3'
(R):5'- CTGACAGCAACACAGGCAGG -3'

Posted On

2015-04-17