Mutagenetix > Incidental Mutation

Incidental Mutation 'R4285:Cfap73'

322025

Institutional Source

Beutler Lab

Gene Symbol

Cfap73

Ensembl Gene

ENSMUSG00000094282

Gene Name

cilia and flagella associated protein 73

Synonyms

Gm5988, Ccdc42b

MMRRC Submission

041080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R4285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120766400-120772300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120770654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 39 (K39E)

Ref Sequence

ENSEMBL: ENSMUSP00000137554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000177908]

AlphaFold

J3QPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031598

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Blast:DEXDc	59	101	9e-19	BLAST
DEXDc	114	313	3.5e-58	SMART
HELICc	347	432	7.86e-20	SMART
low complexity region	628	646	N/A	INTRINSIC
DBP10CT	706	766	1.45e-25	SMART
low complexity region	778	801	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177908
AA Change: K39E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137554
Gene: ENSMUSG00000094282
AA Change: K39E

Domain	Start	End	E-Value	Type
Pfam:DUF4200	35	151	2.1e-25	PFAM
coiled coil region	185	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Ahnak	T	A	19: 8,994,203 (GRCm39)	C5162*	probably null	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Coq6	C	T	12: 84,417,178 (GRCm39)		probably benign	Het
Dlc1	C	T	8: 37,041,282 (GRCm39)	E1316K	possibly damaging	Het
Dscam	A	G	16: 96,510,309 (GRCm39)		probably null	Het
Eya2	T	A	2: 165,566,700 (GRCm39)	N250K	probably benign	Het
Fat4	A	G	3: 38,943,320 (GRCm39)	I738V	probably benign	Het
Gria2	T	G	3: 80,614,969 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,852,247 (GRCm39)	D238E	probably damaging	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Kctd19	G	A	8: 106,109,581 (GRCm39)		probably benign	Het
Kdm1a	T	C	4: 136,309,347 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc1	C	A	1: 153,110,298 (GRCm39)	G1126W	probably damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Man2a2	T	C	7: 80,018,367 (GRCm39)	D141G	probably damaging	Het
Map2k1	C	A	9: 64,119,925 (GRCm39)	V127L	probably damaging	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mxd3	A	G	13: 55,477,167 (GRCm39)	S31P	probably benign	Het
Myo5b	G	A	18: 74,847,920 (GRCm39)	E1053K	probably benign	Het
Nup50l	T	C	6: 96,142,733 (GRCm39)	T104A	probably benign	Het
Or2m12	A	C	16: 19,104,714 (GRCm39)	F260V	probably damaging	Het
Or51a5	G	T	7: 102,771,867 (GRCm39)	Y37*	probably null	Het
Pex5l	A	G	3: 33,061,336 (GRCm39)	I171T	probably damaging	Het
Plag1	A	G	4: 3,905,654 (GRCm39)	V12A	probably benign	Het
Podn	C	A	4: 107,878,893 (GRCm39)	V180L	possibly damaging	Het
Prox2	T	A	12: 85,141,698 (GRCm39)	R168S	probably benign	Het
Prss29	A	G	17: 25,541,231 (GRCm39)	Y225C	probably damaging	Het
Rassf2	G	A	2: 131,847,314 (GRCm39)	T97I	probably benign	Het
Samm50	T	C	15: 84,081,213 (GRCm39)	V47A	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
St6galnac3	A	C	3: 152,912,360 (GRCm39)	V161G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Vat1l	A	G	8: 114,932,523 (GRCm39)	E23G	probably damaging	Het
Vmn2r91	A	G	17: 18,356,030 (GRCm39)	T566A	probably benign	Het
Wls	A	T	3: 159,639,902 (GRCm39)	H511L	probably benign	Het
Zfp644	G	A	5: 106,782,984 (GRCm39)	T1130I	probably damaging	Het

Other mutations in Cfap73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4043:Cfap73	UTSW	5	120,768,030 (GRCm39)	splice site	probably null
R4457:Cfap73	UTSW	5	120,768,215 (GRCm39)	missense	possibly damaging	0.56
R4754:Cfap73	UTSW	5	120,767,729 (GRCm39)	missense	probably damaging	1.00
R4763:Cfap73	UTSW	5	120,768,294 (GRCm39)	missense	probably damaging	1.00
R5240:Cfap73	UTSW	5	120,767,772 (GRCm39)	missense	probably damaging	1.00
R5513:Cfap73	UTSW	5	120,769,777 (GRCm39)	missense	probably damaging	1.00
R5735:Cfap73	UTSW	5	120,770,671 (GRCm39)	missense	probably benign	0.00
R6045:Cfap73	UTSW	5	120,769,777 (GRCm39)	missense	probably damaging	1.00
R6739:Cfap73	UTSW	5	120,768,258 (GRCm39)	missense	probably benign	0.00
R6776:Cfap73	UTSW	5	120,772,276 (GRCm39)	missense	probably damaging	1.00
R7021:Cfap73	UTSW	5	120,768,149 (GRCm39)	missense	probably benign	0.09
R7173:Cfap73	UTSW	5	120,772,279 (GRCm39)	missense	probably damaging	1.00
R7219:Cfap73	UTSW	5	120,768,200 (GRCm39)	missense	probably benign	0.00
R7908:Cfap73	UTSW	5	120,768,123 (GRCm39)	missense	probably benign	0.00
R8721:Cfap73	UTSW	5	120,768,089 (GRCm39)	missense	probably benign	0.04
R8985:Cfap73	UTSW	5	120,768,123 (GRCm39)	missense	probably benign	0.00
R9006:Cfap73	UTSW	5	120,767,760 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATTGGCCAGTAGGTGCTC -3'
(R):5'- CAAACTGACTCTGTAGGTTGTGAG -3'

Sequencing Primer
(F):5'- ACACACGCGTTTGTACCGAG -3'
(R):5'- AGGTTGTGAGTGAGGCCATCTC -3'

Posted On

2015-06-20