Mutagenetix > Incidental Mutation

Incidental Mutation 'R2413:Cfap74'

250057

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

040377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155503081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 24 (R24S)

Ref Sequence

ENSEMBL: ENSMUSP00000131899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123952] [ENSMUST00000151083]

AlphaFold

Q3UY96

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094408

SMART Domains

Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
coiled coil region	134	162	N/A	INTRINSIC
coiled coil region	333	378	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123952
AA Change: R24S

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490
AA Change: R24S

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145520

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151083
AA Change: R24S

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: R24S

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
coiled coil region	134	162	N/A	INTRINSIC
coiled coil region	333	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166921

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,036,446 (GRCm39)	A168S	probably benign	Het
Aspm	A	C	1: 139,405,495 (GRCm39)	I1461L	probably damaging	Het
Bcas3	C	T	11: 85,422,681 (GRCm39)	L517F	probably damaging	Het
Brpf3	T	C	17: 29,024,924 (GRCm39)		probably benign	Het
Clec1a	T	A	6: 129,412,218 (GRCm39)	S51C	probably damaging	Het
Cyp2c40	G	T	19: 39,792,331 (GRCm39)	C204*	probably null	Het
Dgki	C	A	6: 36,824,408 (GRCm39)	R1040L	possibly damaging	Het
F830016B08Rik	T	A	18: 60,433,365 (GRCm39)	Y149*	probably null	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Frmpd1	A	T	4: 45,278,969 (GRCm39)	T565S	probably benign	Het
Heatr5b	A	T	17: 79,064,290 (GRCm39)		probably null	Het
Ipcef1	G	A	10: 6,885,225 (GRCm39)	P92S	probably damaging	Het
Kctd12	T	A	14: 103,219,603 (GRCm39)	I92F	probably damaging	Het
Kntc1	C	T	5: 123,902,212 (GRCm39)	T285I	probably benign	Het
Lipo2	A	T	19: 33,728,657 (GRCm39)	N32K	probably damaging	Het
Mier3	T	C	13: 111,851,662 (GRCm39)		probably benign	Het
Myd88	T	C	9: 119,166,484 (GRCm39)	T277A	probably benign	Het
Myo3a	T	A	2: 22,467,924 (GRCm39)	Y1331N	probably benign	Het
Neb	C	A	2: 52,100,644 (GRCm39)	W4422L	probably damaging	Het
Nfasc	A	G	1: 132,523,243 (GRCm39)	S1019P	probably damaging	Het
Npepps	T	C	11: 97,131,792 (GRCm39)	E354G	probably damaging	Het
Ntrk2	G	T	13: 59,022,226 (GRCm39)	R427L	possibly damaging	Het
Or51g1	A	G	7: 102,634,009 (GRCm39)	S121P	probably damaging	Het
Ptprd	T	A	4: 76,051,437 (GRCm39)	D262V	probably damaging	Het
Serpina9	C	T	12: 103,967,485 (GRCm39)		probably null	Het
Setd2	A	G	9: 110,376,572 (GRCm39)	E129G	probably damaging	Het
Slc29a1	A	G	17: 45,896,643 (GRCm39)	L444P	probably damaging	Het
Synj2	C	A	17: 6,078,849 (GRCm39)	P217T	probably damaging	Het
Tex52	T	C	6: 128,356,871 (GRCm39)	L188P	probably damaging	Het
Tmem63a	A	G	1: 180,788,640 (GRCm39)	M326V	probably benign	Het
Tnxb	A	G	17: 34,937,252 (GRCm39)	T2900A	probably damaging	Het

Other mutations in Cfap74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Cfap74	APN	4	155,503,443 (GRCm39)	missense	possibly damaging	0.95
paranoid	UTSW	4	155,538,481 (GRCm39)	utr 5 prime	probably benign
sensibile	UTSW	4	155,525,743 (GRCm39)	missense	probably null	0.03
touchy	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
FR4304:Cfap74	UTSW	4	155,500,217 (GRCm39)	missense	possibly damaging	0.93
P0007:Cfap74	UTSW	4	155,506,685 (GRCm39)	missense	possibly damaging	0.83
PIT4434001:Cfap74	UTSW	4	155,548,421 (GRCm39)	missense	unknown
R0025:Cfap74	UTSW	4	155,510,572 (GRCm39)	missense	probably benign	0.22
R0034:Cfap74	UTSW	4	155,545,344 (GRCm39)	splice site	probably benign
R0193:Cfap74	UTSW	4	155,510,572 (GRCm39)	missense	probably benign	0.22
R0306:Cfap74	UTSW	4	155,549,896 (GRCm39)	unclassified	probably benign
R0427:Cfap74	UTSW	4	155,525,734 (GRCm39)	missense	probably benign	0.02
R0905:Cfap74	UTSW	4	155,503,153 (GRCm39)	critical splice donor site	probably null
R1116:Cfap74	UTSW	4	155,518,453 (GRCm39)	missense	probably benign	0.15
R1548:Cfap74	UTSW	4	155,518,502 (GRCm39)	missense	probably benign	0.45
R1950:Cfap74	UTSW	4	155,511,887 (GRCm39)	critical splice donor site	probably null
R2009:Cfap74	UTSW	4	155,504,724 (GRCm39)	missense	possibly damaging	0.77
R2029:Cfap74	UTSW	4	155,526,538 (GRCm39)	missense	possibly damaging	0.74
R2135:Cfap74	UTSW	4	155,514,408 (GRCm39)	missense	probably damaging	1.00
R2135:Cfap74	UTSW	4	155,514,397 (GRCm39)	missense	probably damaging	0.97
R2154:Cfap74	UTSW	4	155,513,753 (GRCm39)	missense	possibly damaging	0.94
R2418:Cfap74	UTSW	4	155,540,166 (GRCm39)	utr 5 prime	probably benign
R2930:Cfap74	UTSW	4	155,522,627 (GRCm39)	missense	probably damaging	0.97
R3965:Cfap74	UTSW	4	155,531,174 (GRCm39)	missense	probably damaging	1.00
R4078:Cfap74	UTSW	4	155,540,128 (GRCm39)	missense	probably damaging	0.98
R4238:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4239:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4240:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4491:Cfap74	UTSW	4	155,513,628 (GRCm39)	missense	probably benign	0.22
R4731:Cfap74	UTSW	4	155,548,059 (GRCm39)	intron	probably benign
R5333:Cfap74	UTSW	4	155,521,197 (GRCm39)	missense	probably damaging	0.99
R5362:Cfap74	UTSW	4	155,522,623 (GRCm39)	missense	probably damaging	0.98
R5425:Cfap74	UTSW	4	155,540,149 (GRCm39)	utr 5 prime	probably benign
R5468:Cfap74	UTSW	4	155,510,498 (GRCm39)	missense	probably benign	0.27
R5839:Cfap74	UTSW	4	155,507,207 (GRCm39)	critical splice donor site	probably null
R6010:Cfap74	UTSW	4	155,538,495 (GRCm39)	missense	possibly damaging	0.83
R6284:Cfap74	UTSW	4	155,536,253 (GRCm39)	missense	probably damaging	0.96
R6323:Cfap74	UTSW	4	155,548,395 (GRCm39)	missense	possibly damaging	0.54
R6389:Cfap74	UTSW	4	155,507,793 (GRCm39)	missense	possibly damaging	0.69
R6513:Cfap74	UTSW	4	155,525,743 (GRCm39)	missense	probably null	0.03
R6527:Cfap74	UTSW	4	155,506,722 (GRCm39)	splice site	probably null
R6785:Cfap74	UTSW	4	155,538,481 (GRCm39)	utr 5 prime	probably benign
R6980:Cfap74	UTSW	4	155,550,809 (GRCm39)	unclassified	probably benign
R7039:Cfap74	UTSW	4	155,538,565 (GRCm39)	critical splice donor site	probably null
R7077:Cfap74	UTSW	4	155,540,134 (GRCm39)	missense	unknown
R7116:Cfap74	UTSW	4	155,539,518 (GRCm39)	missense	unknown
R7202:Cfap74	UTSW	4	155,510,654 (GRCm39)	splice site	probably null
R7227:Cfap74	UTSW	4	155,545,405 (GRCm39)	nonsense	probably null
R7228:Cfap74	UTSW	4	155,549,507 (GRCm39)	missense	unknown
R7261:Cfap74	UTSW	4	155,549,831 (GRCm39)	missense	unknown
R7315:Cfap74	UTSW	4	155,547,476 (GRCm39)	missense	unknown
R7337:Cfap74	UTSW	4	155,544,472 (GRCm39)	missense	unknown
R7354:Cfap74	UTSW	4	155,549,804 (GRCm39)	missense	unknown
R7533:Cfap74	UTSW	4	155,500,200 (GRCm39)	missense
R7673:Cfap74	UTSW	4	155,547,513 (GRCm39)	missense	unknown
R7798:Cfap74	UTSW	4	155,507,079 (GRCm39)	missense
R7829:Cfap74	UTSW	4	155,513,694 (GRCm39)	missense
R7897:Cfap74	UTSW	4	155,514,351 (GRCm39)	missense
R8099:Cfap74	UTSW	4	155,539,489 (GRCm39)	missense	unknown
R8126:Cfap74	UTSW	4	155,511,831 (GRCm39)	missense
R8769:Cfap74	UTSW	4	155,503,105 (GRCm39)	missense
R8873:Cfap74	UTSW	4	155,539,465 (GRCm39)	missense	unknown
R8893:Cfap74	UTSW	4	155,531,152 (GRCm39)	missense	unknown
R8900:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8954:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8957:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8982:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R9008:Cfap74	UTSW	4	155,503,121 (GRCm39)	missense
R9406:Cfap74	UTSW	4	155,510,626 (GRCm39)	nonsense	probably null
R9606:Cfap74	UTSW	4	155,509,133 (GRCm39)	missense
R9641:Cfap74	UTSW	4	155,549,054 (GRCm39)	missense	unknown
R9647:Cfap74	UTSW	4	155,549,373 (GRCm39)	missense	unknown
R9655:Cfap74	UTSW	4	155,522,665 (GRCm39)	missense
R9761:Cfap74	UTSW	4	155,550,844 (GRCm39)	missense	unknown
R9797:Cfap74	UTSW	4	155,514,402 (GRCm39)	missense
T0970:Cfap74	UTSW	4	155,547,574 (GRCm39)	splice site	probably null
X0066:Cfap74	UTSW	4	155,548,421 (GRCm39)	missense	probably damaging	1.00
Z1176:Cfap74	UTSW	4	155,510,575 (GRCm39)	missense
Z1177:Cfap74	UTSW	4	155,539,370 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTCACATAGCCTAGAATGG -3'
(R):5'- ACGCCTGGACTTGGTCTTTAG -3'

Sequencing Primer
(F):5'- TAGAATGGCCTCAGACTTCCTAG -3'
(R):5'- CGCTGAACTTGACATAAAAAGATAGC -3'

Posted On

2014-11-12