Mutagenetix > Incidental Mutation

Incidental Mutation 'R5362:Cfap74'

500972

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

043264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5362 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155522623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 670 (S670G)

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 damaging
Transcript: ENSMUST00000151083
AA Change: S670G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: S670G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

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
5530400C23Rik	A	T	6: 133,271,445 (GRCm39)	D163V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd17	G	A	5: 90,413,404 (GRCm39)	A1170V	probably damaging	Het
Ano1	A	C	7: 144,202,337 (GRCm39)		probably benign	Het
Atl2	T	C	17: 80,168,890 (GRCm39)	N37D	probably damaging	Het
C2cd5	T	C	6: 143,028,969 (GRCm39)	Y90C	probably damaging	Het
Carm1	A	G	9: 21,498,655 (GRCm39)	N499S	probably benign	Het
Ccdc47	G	A	11: 106,099,039 (GRCm39)		probably null	Het
Cd300lf	G	T	11: 115,007,940 (GRCm39)	L251M	probably damaging	Het
Clec4a1	A	G	6: 122,909,196 (GRCm39)	D188G	probably damaging	Het
Col4a1	T	C	8: 11,295,760 (GRCm39)		probably benign	Het
Csn2	T	A	5: 87,842,508 (GRCm39)	H165L	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Dlx3	T	C	11: 95,011,326 (GRCm39)	V60A	possibly damaging	Het
Elp1	A	C	4: 56,778,969 (GRCm39)	I616S	probably damaging	Het
Fam221a	A	G	6: 49,353,049 (GRCm39)	H21R	probably damaging	Het
Foxj3	T	A	4: 119,477,340 (GRCm39)	H349Q	unknown	Het
Gm37240	G	A	3: 84,423,000 (GRCm39)	T123I	probably damaging	Het
Gpc1	A	T	1: 92,782,615 (GRCm39)	T121S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itga2b	A	G	11: 102,351,961 (GRCm39)	V512A	probably damaging	Het
Itgae	A	G	11: 73,002,675 (GRCm39)	Y144C	probably damaging	Het
Izumo3	A	T	4: 92,035,037 (GRCm39)	I60K	possibly damaging	Het
Kif9	G	A	9: 110,319,012 (GRCm39)	V159M	probably damaging	Het
Lrp1b	T	C	2: 41,265,914 (GRCm39)	D229G	probably damaging	Het
Nkpd1	G	A	7: 19,257,193 (GRCm39)	G324D	probably damaging	Het
Nrp2	T	A	1: 62,808,221 (GRCm39)	Y617N	probably benign	Het
Ocm	T	C	5: 143,960,674 (GRCm39)	D91G	probably damaging	Het
Or4l15	A	G	14: 50,197,986 (GRCm39)	L181P	possibly damaging	Het
Or52ad1	A	G	7: 102,995,454 (GRCm39)	V227A	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Or6c70	T	C	10: 129,710,422 (GRCm39)	E68G	probably damaging	Het
Pex5l	G	A	3: 33,047,065 (GRCm39)	A295V	probably damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Pou2f2	G	A	7: 24,792,320 (GRCm39)	P512S	probably benign	Het
Prpf8	G	A	11: 75,397,236 (GRCm39)	R2023Q	possibly damaging	Het
Ptprd	A	T	4: 76,047,050 (GRCm39)	S399R	probably damaging	Het
Qrich2	T	C	11: 116,337,976 (GRCm39)	Y1889C	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ranbp6	G	T	19: 29,789,128 (GRCm39)	T408K	probably benign	Het
Scn7a	G	A	2: 66,530,342 (GRCm39)	R668C	probably damaging	Het
Sertad4	T	C	1: 192,529,414 (GRCm39)	N134S	probably damaging	Het
Spg11	G	T	2: 121,891,481 (GRCm39)	N1963K	probably damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Top2a	T	C	11: 98,909,738 (GRCm39)	N120S	probably damaging	Het
Trappc9	C	T	15: 72,930,066 (GRCm39)	E97K	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,386 (GRCm39)	T102S	probably benign	Het
Vmn2r99	G	T	17: 19,599,601 (GRCm39)	M428I	probably benign	Het
Zfp62	A	T	11: 49,107,439 (GRCm39)	H510L	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
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'- CATTCTTAGCCTAGGCAAGTTGATG -3'
(R):5'- ATCTGAGGCCAAGTGTCCTG -3'

Sequencing Primer
(F):5'- ATGCTGTGGCCTAATGACC -3'
(R):5'- CCTGGCTGGCTCAGAAATCAATG -3'

Posted On

2017-12-01