Mutagenetix > Incidental Mutation

Incidental Mutation 'R6749:Cacfd1'

532870

Institutional Source

Beutler Lab

Gene Symbol

Cacfd1

Ensembl Gene

ENSMUSG00000015488

Gene Name

calcium channel flower domain containing 1

Synonyms

MMRRC Submission

044866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27009926-27021089 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27018455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 134 (Y134H)

Ref Sequence

ENSEMBL: ENSMUSP00000109640 (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 damaging
Transcript: ENSMUST00000114003
AA Change: Y72H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488
AA Change: Y72H

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 damaging
Transcript: ENSMUST00000114006
AA Change: Y134H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488
AA Change: Y134H

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: Y134H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488
AA Change: Y134H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,010,774	V875A	possibly damaging	Het
Arhgef15	A	T	11: 68,954,557	F156L	probably damaging	Het
Bdh2	T	A	3: 135,300,691	S184T	probably damaging	Het
Bmp5	A	T	9: 75,776,093	M1L	probably benign	Het
Camk1	G	A	6: 113,334,525	P340L	probably benign	Het
Ccdc105	A	C	10: 78,752,838	M46R	possibly damaging	Het
Cdc14a	T	C	3: 116,297,158	H424R	possibly damaging	Het
Cntfr	T	A	4: 41,663,232	T192S	possibly damaging	Het
Erbin	G	T	13: 103,834,377	S910R	probably damaging	Het
Esrp1	A	T	4: 11,357,519	V366E	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fsip2	T	A	2: 82,978,394	S1686T	possibly damaging	Het
Gata5	A	G	2: 180,334,350	L7S	probably damaging	Het
Hgf	T	A	5: 16,613,642		probably null	Het
Ift140	A	G	17: 25,098,916	E1458G	probably damaging	Het
Ift57	G	A	16: 49,760,984	G209R	probably benign	Het
Il12rb2	G	T	6: 67,361,966		probably benign	Het
Krt78	G	A	15: 101,950,923	R280C	probably damaging	Het
Lipc	A	G	9: 70,823,386	I88T	probably damaging	Het
Lrmda	G	T	14: 22,027,276	R27L	probably benign	Het
Lrrc37a	T	G	11: 103,502,097	E834A	probably benign	Het
Mmachc	C	A	4: 116,704,541	R132L	probably damaging	Het
Myo10	T	C	15: 25,714,110	Y88H	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Olfr1392	A	G	11: 49,294,050	H243R	probably damaging	Het
Padi3	T	C	4: 140,795,853	T289A	possibly damaging	Het
Pcdhgb4	G	T	18: 37,721,229	A226S	possibly damaging	Het
Pde4c	T	C	8: 70,746,010	V167A	probably damaging	Het
Pigr	A	G	1: 130,846,548	T422A	probably benign	Het
Pmp2	T	C	3: 10,182,482	Y49C	probably benign	Het
Prpf39	A	G	12: 65,056,274	I441V	possibly damaging	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rsad1	T	C	11: 94,543,340	E354G	probably damaging	Het
Sema4b	T	A	7: 80,220,201	D412E	possibly damaging	Het
Siglecg	A	G	7: 43,408,979	I97V	probably benign	Het
Slc4a3	C	T	1: 75,554,538	R792*	probably null	Het
Slc6a20a	A	G	9: 123,637,070	C569R	probably damaging	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Sult2a3	T	A	7: 14,082,704	Y183F	probably benign	Het
Tedc1	C	T	12: 113,158,082	T194M	probably damaging	Het
Tmem63c	T	A	12: 87,075,665	N412K	probably damaging	Het
Trav5-1	T	C	14: 52,622,945	I69T	possibly damaging	Het
Trim68	T	C	7: 102,678,783	D321G	probably damaging	Het
Ttn	T	C	2: 76,865,256		probably benign	Het
Vars2	A	G	17: 35,666,713	V109A	probably damaging	Het
Vmn2r96	C	T	17: 18,598,090	P643L	probably damaging	Het
Zfpm2	G	T	15: 40,954,708	V146F	possibly damaging	Het
Znfx1	T	C	2: 167,056,599	K135R	probably benign	Het

Other mutations in Cacfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0751:Cacfd1	UTSW	2	27018981	critical splice donor site	probably null
R1538:Cacfd1	UTSW	2	27018939	missense	probably benign	0.43
R6017:Cacfd1	UTSW	2	27013428	intron	probably benign
R6528:Cacfd1	UTSW	2	27018939	missense	probably benign	0.43
R7334:Cacfd1	UTSW	2	27015546	missense	possibly damaging	0.80
R7691:Cacfd1	UTSW	2	27010094	missense	probably damaging	0.97
R8223:Cacfd1	UTSW	2	27018384	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TGGGTCATAGATCTTGCCACAAAG -3'
(R):5'- TGCAATGTCTGGTGCATACC -3'

Sequencing Primer
(F):5'- GATCTGATACAGCTTTGGACTCTGAC -3'
(R):5'- GGTGCATACCTCACTGTGTATAAAC -3'

Posted On

2018-08-29