Mutagenetix > Incidental Mutation

Incidental Mutation 'R2009:Cfap74'

219336

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

040018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2009 (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 155504724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 103 (R103H)

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: R103H

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490
AA Change: R103H

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: R103H

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: R103H

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: ENSMUST00000166921

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,833,433 (GRCm39)	D34V	probably benign	Het
Adgrf1	A	T	17: 43,632,112 (GRCm39)	R884*	probably null	Het
Adgrg7	T	C	16: 56,582,236 (GRCm39)	T301A	probably benign	Het
Arhgef17	A	G	7: 100,530,988 (GRCm39)	I1366T	probably damaging	Het
C1s2	A	T	6: 124,612,048 (GRCm39)	L112H	probably damaging	Het
C2cd6	A	T	1: 59,042,391 (GRCm39)		noncoding transcript	Het
Col7a1	A	T	9: 108,797,943 (GRCm39)		probably null	Het
Dmp1	A	G	5: 104,360,706 (GRCm39)	S461G	probably damaging	Het
Eif4g2	A	T	7: 110,673,405 (GRCm39)	D753E	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Etv4	T	C	11: 101,665,063 (GRCm39)	D130G	probably damaging	Het
Gabbr2	A	T	4: 46,734,119 (GRCm39)	I533N	probably damaging	Het
Gne	T	C	4: 44,055,273 (GRCm39)	E234G	probably benign	Het
Itga6	C	A	2: 71,647,025 (GRCm39)	N78K	probably benign	Het
Lap3	C	T	5: 45,650,899 (GRCm39)	T33M	probably benign	Het
Limd1	A	G	9: 123,308,564 (GRCm39)	S88G	probably benign	Het
Lrp1	G	T	10: 127,380,385 (GRCm39)	T3922K	probably damaging	Het
Map4k3	A	G	17: 80,971,517 (GRCm39)		probably benign	Het
Mib1	T	C	18: 10,812,118 (GRCm39)	L263S	probably damaging	Het
Ncor1	T	C	11: 62,216,427 (GRCm39)	S1474G	probably benign	Het
Nkapl	A	C	13: 21,651,607 (GRCm39)	S335R	probably damaging	Het
Nrg3	A	G	14: 38,092,771 (GRCm39)	S605P	probably damaging	Het
Or10x4	G	T	1: 174,218,995 (GRCm39)	R120L	possibly damaging	Het
Or52b3	A	G	7: 102,204,151 (GRCm39)	Y220C	probably damaging	Het
Patj	G	A	4: 98,344,406 (GRCm39)	D577N	probably damaging	Het
Pfpl	A	C	19: 12,407,319 (GRCm39)	K523N	possibly damaging	Het
Pik3c2a	A	C	7: 115,963,738 (GRCm39)	L924R	probably damaging	Het
Pkd2l1	C	A	19: 44,144,403 (GRCm39)	R278L	probably benign	Het
Prss2	A	T	6: 41,500,910 (GRCm39)	I108F	probably damaging	Het
Rnase2b	A	G	14: 51,400,347 (GRCm39)	T143A	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Sphk2	A	T	7: 45,360,437 (GRCm39)	H522Q	probably damaging	Het
Szt2	A	G	4: 118,235,261 (GRCm39)		probably null	Het
Tmem88	C	A	11: 69,288,602 (GRCm39)	A106S	probably damaging	Het
Trappc14	C	A	5: 138,259,191 (GRCm39)	C434F	probably damaging	Het
Trim39	A	G	17: 36,574,646 (GRCm39)	L252S	possibly damaging	Het
Trim60	T	A	8: 65,453,975 (GRCm39)	E91D	probably damaging	Het
Trpm5	A	G	7: 142,641,475 (GRCm39)	I145T	possibly damaging	Het
Vmn2r107	A	T	17: 20,595,729 (GRCm39)	M761L	probably benign	Het
Wdr4	G	A	17: 31,719,584 (GRCm39)		probably benign	Het
Wfs1	A	T	5: 37,125,653 (GRCm39)	S413T	probably damaging	Het
Wnt2	A	T	6: 18,030,208 (GRCm39)	W27R	probably damaging	Het
Zc3h3	A	T	15: 75,651,158 (GRCm39)	H687Q	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	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
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
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'- GACTTGATAGAGTCAGAGACCCC -3'
(R):5'- TGGAGAGATGCTATTTGCCTC -3'

Sequencing Primer
(F):5'- TAGAGTCAGAGACCCCTAGAAAAAC -3'
(R):5'- TTAACTCTCTGAACACAGCTGG -3'

Posted On

2014-08-25