Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Cfap74'

549268

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

045172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155540134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 977 (I977S)

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

unknown
Transcript: ENSMUST00000151083
AA Change: I977S

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: I977S

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

0.0708

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,605,893 (GRCm39)	C623Y	probably damaging	Het
Ago3	T	C	4: 126,265,325 (GRCm39)	K322R	probably null	Het
Ankrd17	T	C	5: 90,433,723 (GRCm39)	H682R	possibly damaging	Het
Aoah	A	G	13: 21,094,276 (GRCm39)	D187G	probably damaging	Het
Arhgap17	T	C	7: 122,879,231 (GRCm39)	D840G	unknown	Het
AW551984	C	T	9: 39,502,723 (GRCm39)	V650I	probably benign	Het
Bok	T	A	1: 93,616,911 (GRCm39)	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,510,272 (GRCm39)	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,417,199 (GRCm39)	S72P	possibly damaging	Het
Cobl	T	C	11: 12,203,441 (GRCm39)	N1087S	probably benign	Het
Cyp21a1	C	A	17: 35,021,333 (GRCm39)	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,561,490 (GRCm39)	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,269,580 (GRCm39)	I120S	probably damaging	Het
Enpp2	A	C	15: 54,764,787 (GRCm39)	D146E	probably benign	Het
Exosc9	T	C	3: 36,607,205 (GRCm39)	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,268,498 (GRCm39)	G300S	probably benign	Het
Focad	C	A	4: 88,328,914 (GRCm39)	A1709E	unknown	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fsip2	T	C	2: 82,813,496 (GRCm39)	F3272L	probably benign	Het
Gcnt2	G	A	13: 41,013,896 (GRCm39)	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928 (GRCm39)	E50G	probably damaging	Het
Gm10375	G	T	14: 43,840,427 (GRCm39)	T162K	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gm4924	T	C	10: 82,215,057 (GRCm39)	F952L	unknown	Het
Heatr1	T	C	13: 12,433,045 (GRCm39)	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,756 (GRCm39)	Y442H	unknown	Het
Hp1bp3	C	A	4: 137,966,929 (GRCm39)	T408N	probably damaging	Het
Htra3	A	G	5: 35,825,660 (GRCm39)	V198A	probably damaging	Het
Katnal1	T	C	5: 148,828,547 (GRCm39)	T300A	probably benign	Het
Lipo5	G	T	19: 33,445,170 (GRCm39)	P133Q		Het
Lrp1b	A	T	2: 41,660,858 (GRCm39)	H197Q		Het
Mdc1	C	A	17: 36,156,839 (GRCm39)	A82D	probably damaging	Het
Mstn	A	T	1: 53,103,408 (GRCm39)	D248V	probably benign	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ola1	G	A	2: 72,972,308 (GRCm39)	T221I	probably damaging	Het
Or52z1	A	G	7: 103,436,593 (GRCm39)	I297T	probably damaging	Het
Or5t7	T	C	2: 86,507,236 (GRCm39)	Y147C	possibly damaging	Het
Or7e166	T	A	9: 19,624,428 (GRCm39)	S102T	probably benign	Het
Or8c20	T	A	9: 38,261,266 (GRCm39)	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,623,201 (GRCm39)	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,810,093 (GRCm39)	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,460,086 (GRCm39)	N190I	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,281,633 (GRCm39)	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,071,820 (GRCm39)	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Smarcd3	G	T	5: 24,799,960 (GRCm39)	A270D	probably damaging	Het
Srgap2	A	G	1: 131,272,187 (GRCm39)	M33T		Het
Tle1	G	C	4: 72,076,612 (GRCm39)	P139A	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tsbp1	C	A	17: 34,659,856 (GRCm39)	T93N	possibly damaging	Het
Zfp658	T	A	7: 43,223,413 (GRCm39)	S563T	probably benign	Het
Zswim9	G	A	7: 12,993,679 (GRCm39)	R826C	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
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'- TTGAGCACTCACTCACGCATG -3'
(R):5'- CTGTCTATTCCAGCCCTGAG -3'

Sequencing Primer
(F):5'- TCACGCATGCACACTCGTG -3'
(R):5'- TATTCCAGCCCTGAGGTCAG -3'

Posted On

2019-05-15