Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Cfap74'

609743

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

045949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155514351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 529 (V529A)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

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

AlphaFold

Q3UY96

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: V529A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	TGTTGATCCATA	T	2: 69,154,216 (GRCm39)		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Abcc10	T	C	17: 46,634,999 (GRCm39)	T335A	probably benign	Het
Actr3b	T	C	5: 26,036,657 (GRCm39)	Y245H	probably benign	Het
Afm	G	A	5: 90,695,727 (GRCm39)	M411I	probably benign	Het
Ahr	T	C	12: 35,554,169 (GRCm39)	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,311,232 (GRCm39)	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,215,284 (GRCm39)	Q1151R		Het
Bcl9	A	G	3: 97,112,567 (GRCm39)	V1296A	possibly damaging	Het
Bsn	A	C	9: 107,989,065 (GRCm39)	M2229R	probably damaging	Het
Clip1	C	T	5: 123,760,861 (GRCm39)	V767M	probably benign	Het
Col6a5	A	G	9: 105,766,382 (GRCm39)	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,618,656 (GRCm39)	D68E	probably benign	Het
Csmd1	A	T	8: 17,584,935 (GRCm39)	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,968,931 (GRCm39)	I892T	probably benign	Het
Efcab3	A	T	11: 104,889,061 (GRCm39)	Y4159F	probably benign	Het
Elavl3	G	A	9: 21,929,846 (GRCm39)	R353C	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fbxo3	A	G	2: 103,883,757 (GRCm39)	D327G	possibly damaging	Het
Galr1	T	C	18: 82,424,256 (GRCm39)	N7S	probably benign	Het
Glyatl3	T	C	17: 41,215,802 (GRCm39)	T235A	probably damaging	Het
Gm5145	A	C	17: 20,790,967 (GRCm39)	Q115P	probably benign	Het
Grm5	T	C	7: 87,780,069 (GRCm39)	S1202P	probably benign	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Jmjd1c	A	G	10: 67,075,644 (GRCm39)	N1837S	probably damaging	Het
Jph3	A	T	8: 122,516,136 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,761 (GRCm39)	L376P	probably damaging	Het
Kcne3	C	G	7: 99,833,520 (GRCm39)	R46G	probably benign	Het
Kcnq2	T	C	2: 180,722,934 (GRCm39)	D842G	probably damaging	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Kpna1	T	A	16: 35,854,235 (GRCm39)	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,798,949 (GRCm39)	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,207,723 (GRCm39)	G61D	possibly damaging	Het
Nol4	T	C	18: 22,956,400 (GRCm39)	N115D		Het
Nudt16l2	A	C	9: 105,021,709 (GRCm39)	Y112*	probably null	Het
Pcdh15	A	G	10: 74,289,827 (GRCm39)	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,244,202 (GRCm39)	H79L	probably benign	Het
Pdia2	T	C	17: 26,417,207 (GRCm39)	E79G	probably benign	Het
Pgap1	A	T	1: 54,590,167 (GRCm39)	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,741,726 (GRCm39)	T407S	probably benign	Het
Pkd1l2	G	T	8: 117,724,827 (GRCm39)	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,246,816 (GRCm39)	R77*	probably null	Het
Ppfia2	A	G	10: 106,655,399 (GRCm39)	Y322C	probably damaging	Het
Psg23	T	C	7: 18,341,108 (GRCm39)	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,546,484 (GRCm39)	V270A	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Robo2	T	C	16: 73,695,838 (GRCm39)	E1431G	probably benign	Het
Sdk2	A	G	11: 113,764,027 (GRCm39)	I253T	possibly damaging	Het
Sox9	A	C	11: 112,675,635 (GRCm39)	I275L	probably benign	Het
Tlr4	A	G	4: 66,758,058 (GRCm39)	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860 (GRCm39)	D896G	unknown	Het
Usp48	A	T	4: 137,371,739 (GRCm39)	H955L	probably damaging	Het
Vps54	T	C	11: 21,213,307 (GRCm39)	I30T	probably benign	Het
Zfp106	G	A	2: 120,366,096 (GRCm39)	R59*	probably null	Het
Zmym4	A	T	4: 126,783,332 (GRCm39)	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,525,448 (GRCm39)	Y390N	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
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
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'- TCATGAGGTAGACCCTTCCCTG -3'
(R):5'- AAGCTTGGTCATGTGTTCAGAG -3'

Sequencing Primer
(F):5'- TGTCCTTCTCAGACCTCAAGG -3'
(R):5'- AGAGGAACTGGGCTGGTCTC -3'

Posted On

2019-12-20