Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Cfap47'

184125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap47

Ensembl Gene

Gene Name

cilia and flagella associated protein 47

Synonyms

Gm3297, Gm7173, Gm8787, Gm16462, Chdc2

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02025

Quality Score

Status

Chromosome

Chromosomal Location

78310165-78560891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78554036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 230 (S230R)

Ref Sequence

ENSEMBL: ENSMUSP00000142707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101410] [ENSMUST00000197180]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000101410
AA Change: S230R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098956
Gene: ENSMUSG00000073077
AA Change: S230R

Domain	Start	End	E-Value	Type
SCOP:d1grwa_	390	460	1e-2	SMART
low complexity region	597	608	N/A	INTRINSIC
low complexity region	653	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197180
AA Change: S230R

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: S230R

Domain	Start	End	E-Value	Type
low complexity region	597	608	N/A	INTRINSIC
low complexity region	653	676	N/A	INTRINSIC
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1599	1611	N/A	INTRINSIC
CH	1679	1797	9e-6	SMART
low complexity region	2440	2451	N/A	INTRINSIC
low complexity region	2578	2590	N/A	INTRINSIC
low complexity region	2901	2911	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,866,770 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,187,118 (GRCm39)	T1511A	probably benign	Het
Casp8	A	C	1: 58,863,306 (GRCm39)	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,220,922 (GRCm39)	E1274G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Depdc5	A	G	5: 33,103,976 (GRCm39)		probably null	Het
Dock5	A	G	14: 68,000,736 (GRCm39)	S1656P	probably damaging	Het
Dock6	A	G	9: 21,720,885 (GRCm39)	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,354,228 (GRCm39)	V72D	probably damaging	Het
Etl4	A	G	2: 20,811,337 (GRCm39)	D1508G	probably damaging	Het
Gm20489	A	C	X: 100,307,290 (GRCm39)	V21G	probably damaging	Het
Il16	T	C	7: 83,302,056 (GRCm39)	N22S	probably damaging	Het
Ksr1	T	C	11: 78,912,276 (GRCm39)		probably null	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Neb	T	C	2: 52,197,751 (GRCm39)	T501A	probably benign	Het
Npnt	A	C	3: 132,596,523 (GRCm39)		probably null	Het
Nr1h5	G	A	3: 102,856,942 (GRCm39)		probably benign	Het
Opalin	T	C	19: 41,060,674 (GRCm39)		probably benign	Het
Or10ak9	G	A	4: 118,726,362 (GRCm39)	C127Y	probably damaging	Het
Or2w6	A	G	13: 21,843,433 (GRCm39)	V20A	possibly damaging	Het
Or9s13	A	G	1: 92,548,269 (GRCm39)	I214V	probably benign	Het
Pls3	A	T	X: 74,840,101 (GRCm39)	L341H	probably damaging	Het
Pnp2	T	A	14: 51,197,010 (GRCm39)	L32H	probably damaging	Het
Prpf40b	T	C	15: 99,212,469 (GRCm39)	F571S	probably damaging	Het
Prss16	A	G	13: 22,187,191 (GRCm39)	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,073,008 (GRCm39)	S619P	probably benign	Het
Sirpb1b	C	T	3: 15,613,863 (GRCm39)	R73Q	probably damaging	Het
Slc22a8	G	A	19: 8,571,539 (GRCm39)	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713 (GRCm39)	R366W	probably damaging	Het
Tns2	T	A	15: 102,020,484 (GRCm39)	Y783*	probably null	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp7	C	T	15: 76,772,464 (GRCm39)	S55F	probably damaging	Het

Other mutations in Cfap47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Cfap47	APN	X	78,532,764 (GRCm39)	missense	possibly damaging	0.87
IGL01679:Cfap47	APN	X	78,376,439 (GRCm39)	missense	probably damaging	1.00
IGL02632:Cfap47	APN	X	78,540,279 (GRCm39)	missense	probably damaging	1.00
R1386:Cfap47	UTSW	X	78,553,507 (GRCm39)	missense	possibly damaging	0.54
R1551:Cfap47	UTSW	X	78,532,251 (GRCm39)	missense	probably damaging	1.00
R2121:Cfap47	UTSW	X	78,553,927 (GRCm39)	missense	probably benign	0.04
R2124:Cfap47	UTSW	X	78,553,927 (GRCm39)	missense	probably benign	0.04
R2192:Cfap47	UTSW	X	78,454,218 (GRCm39)	missense	probably damaging	1.00
R3725:Cfap47	UTSW	X	78,553,621 (GRCm39)	missense	probably damaging	0.97
R4304:Cfap47	UTSW	X	78,541,635 (GRCm39)	missense	probably damaging	1.00
R4305:Cfap47	UTSW	X	78,541,635 (GRCm39)	missense	probably damaging	1.00
R4522:Cfap47	UTSW	X	78,553,601 (GRCm39)	missense	possibly damaging	0.63
R4523:Cfap47	UTSW	X	78,553,601 (GRCm39)	missense	possibly damaging	0.63
Z1088:Cfap47	UTSW	X	78,374,420 (GRCm39)	nonsense	probably null
Z1088:Cfap47	UTSW	X	78,374,419 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07