Mutagenetix > Incidental Mutation

Incidental Mutation 'R6528:Cacfd1'

522041

Institutional Source

Beutler Lab

Gene Symbol

Cacfd1

Ensembl Gene

ENSMUSG00000015488

Gene Name

calcium channel flower domain containing 1

Synonyms

5930434B04Rik, mFwe

MMRRC Submission

044654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26899938-26911101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26908951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 97 (D97E)

Ref Sequence

ENSEMBL: ENSMUSP00000109636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000114003] [ENSMUST00000114004] [ENSMUST00000114005] [ENSMUST00000114006] [ENSMUST00000114007]

AlphaFold

Q8BG21

Predicted Effect

probably benign
Transcript: ENSMUST00000045702

SMART Domains

Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	439	4.1e-25	PFAM
Pfam:Sugar_tr	39	488	8.4e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102890

SMART Domains

Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	382	5.3e-22	PFAM
Pfam:Sugar_tr	39	341	3.4e-61	PFAM
Pfam:Sugar_tr	337	434	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114003
AA Change: D97E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488
AA Change: D97E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114004

SMART Domains

Protein: ENSMUSP00000109637
Gene: ENSMUSG00000015488

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 benign
Transcript: ENSMUST00000114005

SMART Domains

Protein: ENSMUSP00000109638
Gene: ENSMUSG00000015488

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 benign
Transcript: ENSMUST00000114006
AA Change: D159E

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488
AA Change: D159E

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 benign
Transcript: ENSMUST00000114007
AA Change: D159E

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488
AA Change: D159E

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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129835

Meta Mutation Damage Score

0.1241

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,596 (GRCm39)	R286H	possibly damaging	Het
Arhgap29	T	A	3: 121,808,351 (GRCm39)	N1176K	probably benign	Het
Ccnj	C	A	19: 40,820,529 (GRCm39)		probably null	Het
Chad	A	G	11: 94,456,450 (GRCm39)	Y176C	probably damaging	Het
Chd5	T	C	4: 152,441,133 (GRCm39)	L191P	probably damaging	Het
Cmtm1	T	C	8: 105,035,927 (GRCm39)	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,377,241 (GRCm39)	A449T	probably damaging	Het
Eml5	T	C	12: 98,790,896 (GRCm39)	E1334G	probably benign	Het
Endou	C	T	15: 97,617,510 (GRCm39)	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,138,421 (GRCm39)	H449N	probably benign	Het
Fkbp15	A	G	4: 62,250,507 (GRCm39)	I363T	probably damaging	Het
Gm12887	C	A	4: 121,472,834 (GRCm39)	G103C	probably damaging	Het
Gm14410	T	A	2: 176,885,301 (GRCm39)	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Irgm2	C	T	11: 58,110,878 (GRCm39)	P202S	probably benign	Het
Khsrp	G	A	17: 57,330,543 (GRCm39)	T551I	probably damaging	Het
Lpin2	T	A	17: 71,551,000 (GRCm39)	I720N	probably damaging	Het
Lypd8	G	A	11: 58,275,439 (GRCm39)	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780 (GRCm39)	L1952F	probably damaging	Het
Med13	G	A	11: 86,189,780 (GRCm39)	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,380,317 (GRCm39)	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,479,819 (GRCm39)	R654C	probably damaging	Het
Or10a3m	T	C	7: 108,312,638 (GRCm39)	L14P	probably damaging	Het
Or12j3	G	T	7: 139,953,354 (GRCm39)	H56Q	possibly damaging	Het
Or13a22	A	G	7: 140,072,964 (GRCm39)	M138V	probably damaging	Het
Or8k35	T	C	2: 86,424,809 (GRCm39)	D121G	probably damaging	Het
Pcdhb6	A	G	18: 37,467,556 (GRCm39)	D159G	probably damaging	Het
Plec	T	C	15: 76,058,630 (GRCm39)	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,896,633 (GRCm39)	D236N	probably damaging	Het
Pnma1	T	A	12: 84,194,197 (GRCm39)	I169F	probably benign	Het
Ppl	T	A	16: 4,905,480 (GRCm39)	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,821,403 (GRCm39)	M252L	probably benign	Het
Pramel29	A	G	4: 143,935,381 (GRCm39)	V120A	probably damaging	Het
Prickle4	T	A	17: 48,000,258 (GRCm39)	R246*	probably null	Het
Rad50	G	A	11: 53,543,109 (GRCm39)	T1235I	probably damaging	Het
Ranbp10	T	C	8: 106,506,588 (GRCm39)	N244S	probably damaging	Het
Robo4	T	C	9: 37,315,664 (GRCm39)	S306P	possibly damaging	Het
Shox2	C	A	3: 66,888,618 (GRCm39)	R91L	probably benign	Het
Tbx5	A	G	5: 120,021,176 (GRCm39)	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,145,258 (GRCm39)	N74S	probably benign	Het
Tgif1	G	A	17: 71,153,555 (GRCm39)		probably benign	Het
Tmem128	T	A	5: 38,423,843 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,956 (GRCm39)	S511P	probably damaging	Het
Trps1	A	G	15: 50,685,823 (GRCm39)	I114T	probably benign	Het
Ttll8	G	T	15: 88,798,441 (GRCm39)	Q765K	probably benign	Het
Usp17ld	A	T	7: 102,899,962 (GRCm39)	D323E	probably damaging	Het
Vmn1r232	G	A	17: 21,134,309 (GRCm39)	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,493,684 (GRCm39)	R87S	probably benign	Het
Vps26b	C	G	9: 26,921,762 (GRCm39)	E254D	probably benign	Het
Vps8	C	A	16: 21,372,875 (GRCm39)	Y113*	probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xcr1	A	T	9: 123,685,048 (GRCm39)	I238N	probably damaging	Het
Zar1l	T	A	5: 150,430,595 (GRCm39)	E272V	probably damaging	Het
Zfp451	A	G	1: 33,816,862 (GRCm39)	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,653,736 (GRCm39)	E77*	probably null	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
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
R7691:Cacfd1	UTSW	2	26,900,106 (GRCm39)	missense	probably damaging	0.97
R8223:Cacfd1	UTSW	2	26,908,396 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGTGCCAGGCAACGTGTATC -3'
(R):5'- CTCAAGAGTCCGGAGAACAG -3'

Sequencing Primer
(F):5'- CAGGCAACGTGTATCTGTCTCAG -3'
(R):5'- CAGGGAGGCACAGGAAGACTC -3'

Posted On

2018-06-06