Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Cfap74'

97251

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

039189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155518453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 564 (E564K)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

predicted gene model for transcript(s): [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

probably benign
Transcript: ENSMUST00000151083
AA Change: E564K

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: E564K

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: ENSMUST00000165947

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

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

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,506,792 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,349,017 (GRCm39)	P1028S	probably damaging	Het
Acad10	A	G	5: 121,768,814 (GRCm39)	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,314,172 (GRCm39)	Y705N	probably benign	Het
Adm	A	G	7: 110,227,501 (GRCm39)	I6V	probably benign	Het
Agps	T	G	2: 75,692,269 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,749,689 (GRCm39)	Q501*	probably null	Het
Cacna2d3	A	G	14: 28,786,278 (GRCm39)		probably benign	Het
Ccnt1	G	A	15: 98,442,219 (GRCm39)	R350W	probably damaging	Het
Clip1	T	C	5: 123,717,554 (GRCm39)	E1250G	probably damaging	Het
Cryz	A	C	3: 154,327,240 (GRCm39)		probably benign	Het
Dnah1	C	A	14: 31,029,824 (GRCm39)	V494F	probably benign	Het
Dpep3	G	T	8: 106,705,461 (GRCm39)	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,056,919 (GRCm39)	A418V	probably damaging	Het
Ehf	T	A	2: 103,097,354 (GRCm39)	N231I	probably damaging	Het
Eif4g3	T	C	4: 137,819,086 (GRCm39)		probably null	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam178b	A	T	1: 36,617,669 (GRCm39)	C82*	probably null	Het
Gm1647	C	T	3: 69,064,205 (GRCm39)	Q31*	probably null	Het
Got1	T	A	19: 43,491,413 (GRCm39)	K346*	probably null	Het
Grid2ip	G	A	5: 143,368,669 (GRCm39)	G656D	possibly damaging	Het
Grm2	A	G	9: 106,525,126 (GRCm39)	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,295,978 (GRCm39)	I381T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Marchf11	T	C	15: 26,409,381 (GRCm39)	L360P	probably damaging	Het
Mettl17	T	C	14: 52,127,055 (GRCm39)	V281A	probably benign	Het
Micu2	A	T	14: 58,191,657 (GRCm39)	D131E	probably benign	Het
Mug1	G	C	6: 121,847,604 (GRCm39)	V661L	probably benign	Het
Myo18b	A	T	5: 112,951,145 (GRCm39)	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,086,878 (GRCm39)	V51I	probably benign	Het
Nlgn1	A	C	3: 25,488,038 (GRCm39)	S766A	probably benign	Het
Or4d2b	T	A	11: 87,780,234 (GRCm39)	M163L	probably benign	Het
Otog	T	C	7: 45,950,025 (GRCm39)		probably benign	Het
Pax2	T	C	19: 44,745,863 (GRCm39)	S11P	probably damaging	Het
Pck2	A	G	14: 55,782,823 (GRCm39)	D392G	probably benign	Het
Plxnd1	A	T	6: 115,943,966 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,600,943 (GRCm39)	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,309,985 (GRCm39)	L149P	probably damaging	Het
Purg	A	T	8: 33,876,773 (GRCm39)	H137L	probably benign	Het
Slc38a8	A	T	8: 120,222,872 (GRCm39)	L150Q	probably damaging	Het
Tifab	T	A	13: 56,324,025 (GRCm39)	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,400,442 (GRCm39)	H353R	probably benign	Het
Ulbp3	A	T	10: 3,070,180 (GRCm39)		noncoding transcript	Het
Upk2	A	G	9: 44,365,086 (GRCm39)		probably null	Het
Zdhhc25	G	A	15: 88,484,823 (GRCm39)	V53I	probably benign	Het
Zfp738	T	A	13: 67,818,362 (GRCm39)		probably null	Het
Zfp810	C	T	9: 22,190,381 (GRCm39)	E176K	probably benign	Het
Zfp846	T	A	9: 20,504,559 (GRCm39)	W140R	possibly 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
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
R2413:Cfap74	UTSW	4	155,503,081 (GRCm39)	missense	possibly damaging	0.76
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'- GACCCTTTCACTCACCCAGAAGATG -3'
(R):5'- ACCTGGCTTTATTCCACCAGCATTG -3'

Sequencing Primer
(F):5'- ttcccccccccacacac -3'
(R):5'- AGCATTGCAGAATGATGCTG -3'

Posted On

2014-01-05