Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Cant1'

401668

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

042833-MU

Accession Numbers

Essential gene?

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

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118406289-118419086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118408050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 296 (R296C)

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: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017620
Gene: ENSMUSG00000025575
AA Change: R296C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092378
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090032
Gene: ENSMUSG00000025575
AA Change: R296C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106287
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101894
Gene: ENSMUSG00000025575
AA Change: R296C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106288
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101895
Gene: ENSMUSG00000025575
AA Change: R296C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106289
AA Change: R333C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101896
Gene: ENSMUSG00000025575
AA Change: R333C

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: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126919
Gene: ENSMUSG00000025575
AA Change: R296C

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

Meta Mutation Damage Score

0.8628

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

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
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly 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
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
R9463:Cant1	UTSW	11	118411455	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGAGCCACGATGATCTGGTC -3'
(R):5'- ACTCAGTGTAGCTTTCTGGCTG -3'

Sequencing Primer
(F):5'- ATGATCTGGTCATCCGTGTTG -3'
(R):5'- GGCTGCATGGTTGTCCC -3'

Posted On

2016-07-06