Mutagenetix > Incidental Mutation

Incidental Mutation 'R3965:Cfap74'

475144

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

040934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155531174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 809 (M809K)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105619] [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: ENSMUST00000105619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135407

Predicted Effect

probably damaging
Transcript: ENSMUST00000151083
AA Change: M809K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: M809K

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

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

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Ccdc121	T	A	5: 31,645,335 (GRCm39)	C363S	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Clic6	T	C	16: 92,295,732 (GRCm39)	S131P	probably benign	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlec1	A	G	9: 118,957,649 (GRCm39)	I878V	probably benign	Het
Elapor1	T	C	3: 108,365,765 (GRCm39)	D998G	probably damaging	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Ewsr1	T	C	11: 5,033,476 (GRCm39)	Y232C	unknown	Het
Exoc2	G	A	13: 31,061,565 (GRCm39)	S492L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Grin2c	G	A	11: 115,151,820 (GRCm39)	R47W	probably damaging	Het
Igfn1	T	C	1: 135,895,557 (GRCm39)	T1670A	probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mia2	T	A	12: 59,223,158 (GRCm39)	S489T	probably damaging	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Nckap1l	T	A	15: 103,373,016 (GRCm39)	C276*	probably null	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Oas1c	A	G	5: 120,946,783 (GRCm39)	F16L	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1ab2	G	A	8: 72,864,108 (GRCm39)	G233R	probably damaging	Het
Or5b123	T	C	19: 13,596,565 (GRCm39)	L13P	probably damaging	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pik3c2g	A	G	6: 139,801,018 (GRCm39)	M388V	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppp6r2	A	G	15: 89,143,317 (GRCm39)	K155E	probably benign	Het
Rxra	T	A	2: 27,642,318 (GRCm39)		probably benign	Het
Susd5	A	G	9: 113,925,260 (GRCm39)	E381G	possibly damaging	Het
Svs5	T	C	2: 164,079,662 (GRCm39)	T82A	possibly damaging	Het
Syt14	A	T	1: 192,584,175 (GRCm39)	H413Q	probably benign	Het
Tg	T	A	15: 66,556,039 (GRCm39)	D910E	probably benign	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tpcn1	G	T	5: 120,694,640 (GRCm39)	T143K	probably damaging	Het
Trbv5	G	T	6: 41,039,342 (GRCm39)		probably benign	Het
Trhr	T	A	15: 44,061,095 (GRCm39)	I205N	possibly damaging	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Trpc6	G	A	9: 8,626,622 (GRCm39)	C324Y	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Zfhx4	G	T	3: 5,468,907 (GRCm39)	V3022F	probably damaging	Het
Zswim8	G	A	14: 20,763,141 (GRCm39)	V347I	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
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

Posted On

2017-04-14