Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Cacfd1'

593373

Institutional Source

Beutler Lab

Gene Symbol

Cacfd1

Ensembl Gene

ENSMUSG00000015488

Gene Name

calcium channel flower domain containing 1

Synonyms

5930434B04Rik, mFwe

MMRRC Submission

045755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26899938-26911101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26900106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 36 (L36P)

Ref Sequence

ENSEMBL: ENSMUSP00000109639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102891] [ENSMUST00000114003] [ENSMUST00000114004] [ENSMUST00000114005] [ENSMUST00000114006] [ENSMUST00000114007]

AlphaFold

Q8BG21

Predicted Effect

probably benign
Transcript: ENSMUST00000102891

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Reprolysin_4	84	287	8.5e-11	PFAM
Pfam:Reprolysin	96	291	4.9e-14	PFAM
Pfam:Reprolysin_3	106	237	5.6e-11	PFAM
TSP1	392	444	3.29e-14	SMART
TSP1	693	748	7.01e0	SMART
TSP1	750	810	3.34e-6	SMART
TSP1	904	959	5.85e0	SMART
TSP1	961	1019	2.69e0	SMART
Blast:TSP1	1022	1079	4e-26	BLAST
TSP1	1081	1137	4.58e-4	SMART
Blast:CUB	1196	1293	2e-39	BLAST
Blast:CUB	1303	1412	3e-63	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114003

SMART Domains

Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
Cg6151-P	1	80	6.19e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114004
AA Change: L36P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109637
Gene: ENSMUSG00000015488
AA Change: L36P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	106	7.88e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114005
AA Change: L36P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109638
Gene: ENSMUSG00000015488
AA Change: L36P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	114	5.53e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114006
AA Change: L36P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488
AA Change: L36P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114007
AA Change: L36P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488
AA Change: L36P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

silent
Transcript: ENSMUST00000133807

SMART Domains

Protein: ENSMUSP00000122562
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
Cg6151-P	53	118	8.02e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to DMPA/TPA-induced papilloma formation (number and latency) associated with decreased cell proliferation and increased apoptosis of cells in papillomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,773,219 (GRCm39)	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,256,540 (GRCm39)	V782A	probably benign	Het
Arhgef17	G	A	7: 100,578,849 (GRCm39)	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,091,782 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,580,271 (GRCm39)	E832G	probably damaging	Het
Brpf3	G	C	17: 29,025,805 (GRCm39)	A293P	probably damaging	Het
Camsap2	T	C	1: 136,220,742 (GRCm39)	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,474,028 (GRCm39)	Q201L	probably benign	Het
Cdan1	A	G	2: 120,560,048 (GRCm39)	V372A	probably damaging	Het
Cenpf	C	A	1: 189,390,404 (GRCm39)	E1143*	probably null	Het
Colgalt1	A	T	8: 72,073,398 (GRCm39)	M340L	probably benign	Het
Crybg3	A	G	16: 59,376,497 (GRCm39)	Y1586H	not run	Het
Csmd3	A	G	15: 47,604,569 (GRCm39)	I1058T		Het
Dock1	G	A	7: 134,739,886 (GRCm39)		probably null	Het
Dzank1	G	A	2: 144,348,091 (GRCm39)	T225I	probably damaging	Het
Eif3c	G	A	7: 126,151,162 (GRCm39)	R721W	possibly damaging	Het
Fdps	A	G	3: 89,006,674 (GRCm39)	V72A	probably benign	Het
Filip1l	A	G	16: 57,392,796 (GRCm39)	N1128S	probably benign	Het
Fmnl2	T	A	2: 52,991,510 (GRCm39)	Y342N	unknown	Het
Gria1	A	T	11: 57,127,813 (GRCm39)	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,765,640 (GRCm39)	S303I	probably damaging	Het
Herc2	C	T	7: 55,841,593 (GRCm39)	P3491S	probably benign	Het
Ift25	A	G	4: 107,130,886 (GRCm39)	I59V	probably benign	Het
Lama2	T	C	10: 27,084,389 (GRCm39)	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,534 (GRCm39)	M253T	probably damaging	Het
Ltn1	G	T	16: 87,195,574 (GRCm39)	H1317Q	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mki67	C	T	7: 135,303,721 (GRCm39)	V716I	not run	Het
Mllt10	A	G	2: 18,208,422 (GRCm39)	S694G	possibly damaging	Het
Mllt10	G	C	2: 18,208,423 (GRCm39)	S694T	probably null	Het
Mtcl1	A	G	17: 66,687,352 (GRCm39)	L518S	probably damaging	Het
Or2ad1	G	A	13: 21,327,140 (GRCm39)	A29V	probably benign	Het
Pcdh10	G	T	3: 45,335,632 (GRCm39)	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,194,340 (GRCm39)	T39M	probably benign	Het
Pls1	T	C	9: 95,655,726 (GRCm39)	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819 (GRCm39)	V235I	probably benign	Het
Rhobtb3	A	T	13: 76,027,056 (GRCm39)	V439E	probably damaging	Het
Septin8	A	G	11: 53,428,414 (GRCm39)	T355A	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Ssc5d	C	T	7: 4,947,168 (GRCm39)	T1174I	probably benign	Het
Sspo	A	T	6: 48,461,163 (GRCm39)	T3535S	probably benign	Het
Stk39	A	G	2: 68,301,983 (GRCm39)	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,384,708 (GRCm39)	I123V	probably benign	Het
Sv2a	A	T	3: 96,095,727 (GRCm39)	I348F	probably benign	Het
Taar8b	T	A	10: 23,967,436 (GRCm39)	R253*	probably null	Het
Tbc1d4	T	C	14: 101,745,077 (GRCm39)	K183R	probably damaging	Het
Tet2	T	A	3: 133,192,610 (GRCm39)	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,501,024 (GRCm39)	T16S	possibly damaging	Het
Togaram2	A	G	17: 72,023,405 (GRCm39)	T774A	probably benign	Het
Tshr	C	A	12: 91,464,515 (GRCm39)	A87E	probably benign	Het
Tsn	T	C	1: 118,237,505 (GRCm39)	D53G	probably benign	Het
Usp37	TC	T	1: 74,525,919 (GRCm39)		probably null	Het
Vav2	T	A	2: 27,187,750 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,109 (GRCm39)	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,592,851 (GRCm39)	Y452F	probably benign	Het
Vmn2r79	A	G	7: 86,687,111 (GRCm39)	R831G	probably damaging	Het
Zfp821	T	C	8: 110,447,871 (GRCm39)	S71P	probably damaging	Het
Zwilch	T	A	9: 64,063,373 (GRCm39)	I286F	probably benign	Het

Other mutations in Cacfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0751:Cacfd1	UTSW	2	26,908,993 (GRCm39)	critical splice donor site	probably null
R1538:Cacfd1	UTSW	2	26,908,951 (GRCm39)	missense	probably benign	0.43
R6017:Cacfd1	UTSW	2	26,903,440 (GRCm39)	intron	probably benign
R6528:Cacfd1	UTSW	2	26,908,951 (GRCm39)	missense	probably benign	0.43
R6749:Cacfd1	UTSW	2	26,908,467 (GRCm39)	missense	probably damaging	0.98
R7334:Cacfd1	UTSW	2	26,905,558 (GRCm39)	missense	possibly damaging	0.80
R8223:Cacfd1	UTSW	2	26,908,396 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TGTAAACACGCCCCTTATGC -3'
(R):5'- TCCAAAGGCTGGGAACTTGG -3'

Sequencing Primer
(F):5'- TGTAAACACGCCCCTTATGCTATAC -3'
(R):5'- GTAAGCATCACCAGGCCGAG -3'

Posted On

2019-11-12