Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Cfap58'

510627

Institutional Source

Beutler Lab

Gene Symbol

Cfap58

Ensembl Gene

ENSMUSG00000046585

Gene Name

cilia and flagella associated protein 58

Synonyms

Ccdc147, LOC381229

MMRRC Submission

044472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47926151-48023818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47929716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 59 (R59H)

Ref Sequence

ENSEMBL: ENSMUSP00000070533 (fasta)

Gene Model

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

AlphaFold

B2RW38

Predicted Effect

probably benign
Transcript: ENSMUST00000066308
AA Change: R59H

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: R59H

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

Meta Mutation Damage Score

0.1513

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	probably damaging	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
IGL03376:Cfap58	APN	19	48,023,164 (GRCm39)	missense	possibly damaging	0.60
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCAACATCCTCGCTCTTTC -3'
(R):5'- AATAACTCATGCCTGGCCAGC -3'

Sequencing Primer
(F):5'- TCTTTCTCGCAGGACAAGG -3'
(R):5'- CCGAGAGCTGTCAGTATCATG -3'

Posted On

2018-04-02