Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03376:Cfap58'

420491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap58

Ensembl Gene

ENSMUSG00000046585

Gene Name

cilia and flagella associated protein 58

Synonyms

Ccdc147, LOC381229

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

47926151-48023818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48023164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 859 (T859S)

Ref Sequence

ENSEMBL: ENSMUSP00000070533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066308]

AlphaFold

B2RW38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066308
AA Change: T859S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: T859S

Domain	Start	End	E-Value	Type
coiled coil region	106	579	N/A	INTRINSIC
coiled coil region	642	706	N/A	INTRINSIC
low complexity region	740	762	N/A	INTRINSIC
coiled coil region	772	832	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,554,811 (GRCm39)		probably benign	Het
Ccdc122	A	G	14: 77,306,352 (GRCm39)	E41G	probably damaging	Het
Cdh3	C	T	8: 107,268,036 (GRCm39)	T357I	probably benign	Het
Cfap57	T	A	4: 118,441,917 (GRCm39)	Q717L	probably damaging	Het
Cmtr1	C	T	17: 29,910,385 (GRCm39)	R497C	probably benign	Het
Csmd2	T	C	4: 128,411,464 (GRCm39)	I2494T	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Eml3	A	G	19: 8,911,154 (GRCm39)	D260G	probably damaging	Het
Gbf1	T	C	19: 46,250,960 (GRCm39)	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,250,048 (GRCm39)	R32H	probably damaging	Het
Hpx	C	T	7: 105,241,458 (GRCm39)		probably benign	Het
Ikzf3	T	A	11: 98,379,779 (GRCm39)	H163L	probably damaging	Het
Irak3	G	A	10: 119,982,541 (GRCm39)		probably benign	Het
Itih5	G	A	2: 10,211,584 (GRCm39)	V275I	probably benign	Het
Klc1	G	T	12: 111,742,387 (GRCm39)	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,297,208 (GRCm39)	*108W	probably null	Het
Mcph1	T	C	8: 18,646,989 (GRCm39)	S31P	probably damaging	Het
Mettl4	A	T	17: 95,042,799 (GRCm39)	S346T	probably damaging	Het
Myo3a	A	T	2: 22,490,086 (GRCm39)		probably benign	Het
Or2ag19	T	A	7: 106,444,677 (GRCm39)	N286K	probably damaging	Het
Otol1	A	G	3: 69,934,845 (GRCm39)	E279G	probably damaging	Het
Pappa	T	A	4: 65,115,071 (GRCm39)	N722K	probably benign	Het
Pramel7	A	G	2: 87,319,947 (GRCm39)	S449P	probably damaging	Het
Rassf9	A	G	10: 102,381,059 (GRCm39)	N145S	probably damaging	Het
Robo2	T	C	16: 73,753,380 (GRCm39)	I158M	probably damaging	Het
Sbf1	A	G	15: 89,173,219 (GRCm39)		probably benign	Het
Slc30a8	C	T	15: 52,169,853 (GRCm39)	R27*	probably null	Het
Tmco2	T	A	4: 120,966,249 (GRCm39)	T36S	probably benign	Het
Tns4	T	C	11: 98,969,382 (GRCm39)	S360G	probably benign	Het
Vwa8	A	G	14: 79,420,574 (GRCm39)		probably null	Het
Wwc1	C	T	11: 35,743,121 (GRCm39)	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,767,377 (GRCm39)		probably benign	Het

Other mutations in Cfap58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:Cfap58	APN	19	47,963,006 (GRCm39)	missense	probably benign	0.30
IGL02068:Cfap58	APN	19	47,974,951 (GRCm39)	missense	probably damaging	1.00
IGL02609:Cfap58	APN	19	47,963,941 (GRCm39)	missense	possibly damaging	0.80
PIT4515001:Cfap58	UTSW	19	48,023,122 (GRCm39)	missense	probably benign
PIT4618001:Cfap58	UTSW	19	47,963,953 (GRCm39)	missense	probably damaging	1.00
R0015:Cfap58	UTSW	19	48,017,539 (GRCm39)	missense	probably benign	0.45
R0015:Cfap58	UTSW	19	48,017,539 (GRCm39)	missense	probably benign	0.45
R0454:Cfap58	UTSW	19	47,963,119 (GRCm39)	critical splice donor site	probably null
R0545:Cfap58	UTSW	19	47,929,536 (GRCm39)	splice site	probably benign
R0789:Cfap58	UTSW	19	47,943,748 (GRCm39)	missense	probably benign	0.09
R0926:Cfap58	UTSW	19	47,951,001 (GRCm39)	missense	probably damaging	0.96
R1148:Cfap58	UTSW	19	47,976,943 (GRCm39)	missense	probably damaging	0.96
R1148:Cfap58	UTSW	19	47,976,943 (GRCm39)	missense	probably damaging	0.96
R1462:Cfap58	UTSW	19	47,950,869 (GRCm39)	missense	probably damaging	1.00
R1462:Cfap58	UTSW	19	47,950,869 (GRCm39)	missense	probably damaging	1.00
R1493:Cfap58	UTSW	19	47,976,943 (GRCm39)	missense	probably damaging	0.96
R1541:Cfap58	UTSW	19	47,971,969 (GRCm39)	missense	probably damaging	1.00
R1629:Cfap58	UTSW	19	47,929,778 (GRCm39)	missense	probably benign	0.02
R1648:Cfap58	UTSW	19	47,943,844 (GRCm39)	missense	probably benign	0.13
R1837:Cfap58	UTSW	19	48,017,578 (GRCm39)	missense	probably damaging	0.98
R2307:Cfap58	UTSW	19	47,950,925 (GRCm39)	nonsense	probably null
R2513:Cfap58	UTSW	19	47,950,981 (GRCm39)	missense	probably benign	0.03
R3802:Cfap58	UTSW	19	47,941,498 (GRCm39)	missense	possibly damaging	0.81
R4233:Cfap58	UTSW	19	47,963,994 (GRCm39)	missense	possibly damaging	0.60
R4258:Cfap58	UTSW	19	47,937,923 (GRCm39)	splice site	probably null
R4414:Cfap58	UTSW	19	47,941,480 (GRCm39)	missense	possibly damaging	0.87
R4763:Cfap58	UTSW	19	47,971,945 (GRCm39)	missense	probably damaging	1.00
R5300:Cfap58	UTSW	19	47,929,595 (GRCm39)	missense	probably benign	0.09
R5406:Cfap58	UTSW	19	48,017,541 (GRCm39)	missense	possibly damaging	0.81
R5497:Cfap58	UTSW	19	48,017,548 (GRCm39)	missense	probably benign	0.08
R5635:Cfap58	UTSW	19	47,971,981 (GRCm39)	missense	possibly damaging	0.47
R6315:Cfap58	UTSW	19	47,929,716 (GRCm39)	missense	probably benign	0.40
R6483:Cfap58	UTSW	19	47,971,891 (GRCm39)	missense	probably benign	0.00
R6727:Cfap58	UTSW	19	47,943,856 (GRCm39)	missense	probably benign	0.30
R6896:Cfap58	UTSW	19	47,932,626 (GRCm39)	missense	probably damaging	0.98
R7461:Cfap58	UTSW	19	47,970,561 (GRCm39)	missense	possibly damaging	0.70
R7473:Cfap58	UTSW	19	47,963,064 (GRCm39)	nonsense	probably null
R7613:Cfap58	UTSW	19	47,970,561 (GRCm39)	missense	possibly damaging	0.70
R7650:Cfap58	UTSW	19	47,974,967 (GRCm39)	missense	possibly damaging	0.84
R7982:Cfap58	UTSW	19	47,963,006 (GRCm39)	missense	probably benign	0.30
R8083:Cfap58	UTSW	19	47,971,957 (GRCm39)	missense	probably damaging	1.00
R8121:Cfap58	UTSW	19	48,017,543 (GRCm39)	missense	probably benign	0.40
R8321:Cfap58	UTSW	19	47,946,586 (GRCm39)	missense	probably damaging	0.99
R8396:Cfap58	UTSW	19	48,017,540 (GRCm39)	missense	probably damaging	1.00
R8462:Cfap58	UTSW	19	47,972,089 (GRCm39)	missense	possibly damaging	0.94
R8745:Cfap58	UTSW	19	47,929,553 (GRCm39)	nonsense	probably null
R8805:Cfap58	UTSW	19	47,941,535 (GRCm39)	missense	probably damaging	0.99
R9049:Cfap58	UTSW	19	48,015,157 (GRCm39)	critical splice acceptor site	probably null
R9142:Cfap58	UTSW	19	47,974,993 (GRCm39)	critical splice donor site	probably null
R9358:Cfap58	UTSW	19	47,962,987 (GRCm39)	nonsense	probably null
R9709:Cfap58	UTSW	19	47,963,992 (GRCm39)	missense	probably damaging	1.00
X0067:Cfap58	UTSW	19	47,943,747 (GRCm39)	missense	probably benign

Posted On

2016-08-02