Mutagenetix > Incidental Mutation

Incidental Mutation 'R4239:Cfap74'

321245

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

041056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155547529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1238 (H1238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105619] [ENSMUST00000151083]

AlphaFold

Q3UY96

Predicted Effect

probably benign
Transcript: ENSMUST00000105619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144625

Predicted Effect

probably benign
Transcript: ENSMUST00000151083
AA Change: H1238Q

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: H1238Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (55/58)

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Alpk2	T	A	18: 65,433,212 (GRCm39)	I1765F	probably damaging	Het
Ano5	T	A	7: 51,237,414 (GRCm39)	I696N	probably damaging	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Atad2b	A	G	12: 5,035,710 (GRCm39)	N759D	probably benign	Het
B4galnt4	T	C	7: 140,641,239 (GRCm39)	L18P	probably damaging	Het
Boc	T	C	16: 44,312,247 (GRCm39)	D605G	probably damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cog4	T	C	8: 111,585,244 (GRCm39)	I303T	probably damaging	Het
Col18a1	C	T	10: 76,932,001 (GRCm39)	V363I	unknown	Het
Crip3	A	T	17: 46,742,156 (GRCm39)	K184*	probably null	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dnah3	G	A	7: 119,628,248 (GRCm39)	Q1459*	probably null	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Ehhadh	T	G	16: 21,581,438 (GRCm39)	D518A	probably damaging	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fbxl3	G	A	14: 103,326,854 (GRCm39)	S176L	probably damaging	Het
Gm1979	T	C	5: 26,206,119 (GRCm39)	T154A	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ifi214	A	T	1: 173,352,509 (GRCm39)	S307T	possibly damaging	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Large2	A	G	2: 92,196,950 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,191,224 (GRCm39)	I1086T	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Or13a25	A	G	7: 140,247,496 (GRCm39)	N99D	probably benign	Het
Or51f1d	T	C	7: 102,701,003 (GRCm39)	V166A	probably benign	Het
Or5g25	T	A	2: 85,478,647 (GRCm39)	Q6L	probably damaging	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Plcb1	A	T	2: 135,186,078 (GRCm39)	I682F	probably damaging	Het
Plcz1	T	A	6: 139,986,344 (GRCm39)		probably null	Het
Prl7a1	T	A	13: 27,821,549 (GRCm39)	Q129L	possibly damaging	Het
Prrt4	T	C	6: 29,170,163 (GRCm39)	Y763C	probably damaging	Het
Psma7	T	C	2: 179,681,304 (GRCm39)		probably benign	Het
Serpinb6b	G	C	13: 33,156,246 (GRCm39)	C112S	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Slc35f5	G	A	1: 125,500,211 (GRCm39)	A242T	possibly damaging	Het
Speer4b	T	C	5: 27,706,311 (GRCm39)	R19G	probably benign	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trbv12-2	A	G	6: 41,095,831 (GRCm39)	N12D	probably benign	Het
Uba7	T	C	9: 107,854,001 (GRCm39)		probably null	Het
Upf3a	A	G	8: 13,846,591 (GRCm39)	R324G	probably benign	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Wbp2	G	A	11: 115,971,373 (GRCm39)		probably benign	Het
Wdpcp	T	A	11: 21,645,269 (GRCm39)	N232K	probably damaging	Het
Wdpcp	T	A	11: 21,645,271 (GRCm39)	M233K	probably benign	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	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
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'- TGGCCATAAACCCACTGTCC -3'
(R):5'- GAGTGATCTTCTTTACGCTTCGATG -3'

Sequencing Primer
(F):5'- CCTCCTCTACTGCTGGTCAGATC -3'
(R):5'- TTCGATGCCCTGAAATACGG -3'

Posted On

2015-06-12