Mutagenetix > Incidental Mutation

Incidental Mutation 'R9606:Cfap74'

723865

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9606 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155509133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 295 (T295A)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

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

AlphaFold

Q3UY96

Predicted Effect

probably benign
Transcript: ENSMUST00000123952

SMART Domains

Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: T295A

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,706 (GRCm39)	Y286C	probably damaging	Het
Cacna1c	T	C	6: 118,587,455 (GRCm39)	T1657A		Het
Ccs	A	T	19: 4,882,897 (GRCm39)	D151E	probably benign	Het
Chmp4c	A	T	3: 10,432,222 (GRCm39)	E44V	probably damaging	Het
Crybg2	A	T	4: 133,801,383 (GRCm39)	K539*	probably null	Het
Dgkg	T	C	16: 22,441,011 (GRCm39)	M1V	probably null	Het
E2f2	T	A	4: 135,911,743 (GRCm39)	Y251*	probably null	Het
Fat2	T	C	11: 55,180,093 (GRCm39)	Y1416C	probably damaging	Het
Fgl2	T	C	5: 21,577,991 (GRCm39)	S93P	possibly damaging	Het
Hivep3	C	T	4: 119,989,786 (GRCm39)	T2079I	probably damaging	Het
Igfl3	A	C	7: 17,913,920 (GRCm39)	K90T	possibly damaging	Het
Lsamp	A	G	16: 41,709,292 (GRCm39)	D74G	probably benign	Het
Mmrn2	C	A	14: 34,119,654 (GRCm39)	T211K	possibly damaging	Het
Mov10	A	T	3: 104,707,664 (GRCm39)	V570D	probably benign	Het
Mrc1	A	T	2: 14,313,517 (GRCm39)	Y916F	probably benign	Het
Myo10	CAGGTATAAAG	CAG	15: 25,776,401 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,686 (GRCm39)	C370S	probably damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nrcam	A	T	12: 44,609,240 (GRCm39)	N455I	probably damaging	Het
Nrp1	G	A	8: 129,229,029 (GRCm39)	E836K	probably benign	Het
Or2t29	C	T	11: 58,433,753 (GRCm39)	C196Y	probably damaging	Het
Or5b120	A	T	19: 13,479,943 (GRCm39)	K79*	probably null	Het
Or6c216	A	T	10: 129,678,625 (GRCm39)	C95*	probably null	Het
Or8b1d	A	G	9: 38,558,620 (GRCm39)	S67P	probably damaging	Het
Pcca	T	C	14: 122,901,717 (GRCm39)	S287P	probably damaging	Het
Pitpnm3	T	A	11: 71,955,069 (GRCm39)	T482S	probably benign	Het
Pld2	C	T	11: 70,445,893 (GRCm39)	R676*	probably null	Het
Ppm1k	T	C	6: 57,491,057 (GRCm39)	Y286C	possibly damaging	Het
Rb1	T	C	14: 73,517,573 (GRCm39)	N278D	probably damaging	Het
Sema3g	T	C	14: 30,943,783 (GRCm39)	L221P	probably damaging	Het
Skint2	C	T	4: 112,483,147 (GRCm39)	T184I	probably benign	Het
Slc38a2	A	G	15: 96,591,172 (GRCm39)	F232S	probably damaging	Het
Snx6	T	C	12: 54,814,811 (GRCm39)	N170S	probably benign	Het
Sox9	T	A	11: 112,673,416 (GRCm39)	N2K	probably damaging	Het
Sp140l1	G	C	1: 85,075,344 (GRCm39)		probably null	Het
Srpk2	T	C	5: 23,729,604 (GRCm39)	E345G	probably benign	Het
Tbc1d21	T	C	9: 58,268,487 (GRCm39)	M291V	possibly damaging	Het
Tekt2	T	C	4: 126,218,693 (GRCm39)	N20S	probably benign	Het
Tnxb	T	G	17: 34,914,578 (GRCm39)	I1888S	possibly damaging	Het
Tsnaxip1	G	A	8: 106,566,685 (GRCm39)	E174K	probably damaging	Het
Ttc28	G	A	5: 111,433,140 (GRCm39)	R2058Q	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ttyh2	T	A	11: 114,601,667 (GRCm39)	D430E	probably benign	Het
Ubr2	C	T	17: 47,245,020 (GRCm39)	G1669R	probably damaging	Het
Vcan	A	T	13: 89,853,491 (GRCm39)	S490T	probably damaging	Het
Vmn1r86	T	A	7: 12,836,741 (GRCm39)	D45V	probably damaging	Het
Wdr12	A	G	1: 60,127,226 (GRCm39)	V143A	possibly damaging	Het
Zbtb18	T	A	1: 177,274,989 (GRCm39)	Y116*	probably null	Het
Zdbf2	C	T	1: 63,342,536 (GRCm39)	T305I	possibly damaging	Het
Zfp384	T	A	6: 125,007,802 (GRCm39)	M244K	possibly damaging	Het
Zfp423	A	T	8: 88,414,595 (GRCm39)	V1241D	probably damaging	Het
Zfp574	A	G	7: 24,780,640 (GRCm39)	Y554C	probably damaging	Het
Zfp616	T	C	11: 73,976,220 (GRCm39)	S830P	probably damaging	Het
Zfp839	A	G	12: 110,834,776 (GRCm39)	Y677C	probably benign	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
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
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'- GCTGCGTGTTAGGTGAGAAAC -3'
(R):5'- CTATCAGGTGATGCGTGCTG -3'

Sequencing Primer
(F):5'- CACGTGGAAAATTATGGGTGTTGAAC -3'
(R):5'- ATGCGTGCTGAGCCTTC -3'

Posted On

2022-09-12