Mutagenetix > Incidental Mutation

Incidental Mutation 'R8721:Cfap73'

662113

Institutional Source

Beutler Lab

Gene Symbol

Cfap73

Ensembl Gene

ENSMUSG00000094282

Gene Name

cilia and flagella associated protein 73

Synonyms

Gm5988, Ccdc42b

MMRRC Submission

068717-MU

Accession Numbers

Essential gene?

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

Stock #

R8721 (G1)

Quality Score

109.008

Status

Not validated

Chromosome

Chromosomal Location

120766400-120772300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120768089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 223 (E223G)

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

probably benign
Transcript: ENSMUST00000177908
AA Change: E223G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137554
Gene: ENSMUSG00000094282
AA Change: E223G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,035,115 (GRCm39)	D684G	possibly damaging	Het
Abhd16a	T	C	17: 35,310,571 (GRCm39)	V94A	possibly damaging	Het
Acly	A	T	11: 100,412,806 (GRCm39)		probably null	Het
Adamts1	G	T	16: 85,594,775 (GRCm39)	T621K	probably damaging	Het
Arhgap24	A	T	5: 103,023,565 (GRCm39)	T200S	possibly damaging	Het
Arhgap31	A	G	16: 38,427,058 (GRCm39)	V598A	probably benign	Het
Ascc1	T	C	10: 59,933,928 (GRCm39)	F323S	possibly damaging	Het
Cdcp3	T	C	7: 130,879,335 (GRCm39)	S1785P	unknown	Het
Ces2b	T	A	8: 105,560,527 (GRCm39)	V114D	possibly damaging	Het
Csnk1e	T	C	15: 79,314,015 (GRCm39)	N78S	possibly damaging	Het
Cyp7a1	G	T	4: 6,268,273 (GRCm39)	A484E	probably damaging	Het
Dnah9	G	T	11: 65,986,124 (GRCm39)	T1170K	probably damaging	Het
Fam83d	G	T	2: 158,627,522 (GRCm39)	V404L	probably benign	Het
Fbxw28	C	T	9: 109,157,382 (GRCm39)	V289I	probably benign	Het
Frs2	T	G	10: 116,909,935 (GRCm39)	I476L	probably benign	Het
Gbp2b	A	T	3: 142,312,705 (GRCm39)	I363F	possibly damaging	Het
Gm8267	A	T	14: 44,959,507 (GRCm39)	F186I	possibly damaging	Het
Hand1	A	G	11: 57,722,605 (GRCm39)	L3P	probably damaging	Het
Hmcn2	C	T	2: 31,315,189 (GRCm39)	L3671F	probably damaging	Het
Hspa12b	A	G	2: 130,982,922 (GRCm39)	D260G	probably benign	Het
Itih2	T	C	2: 10,111,619 (GRCm39)	K440E	probably damaging	Het
Morn4	A	T	19: 42,066,439 (GRCm39)	N49K	possibly damaging	Het
Mtmr6	T	G	14: 60,527,128 (GRCm39)		probably null	Het
Mylk	A	T	16: 34,817,176 (GRCm39)	D1848V	probably damaging	Het
Myo7b	A	G	18: 32,140,064 (GRCm39)	V242A	probably damaging	Het
Or4a74	T	C	2: 89,440,186 (GRCm39)	K87E	probably benign	Het
Or8g19	T	G	9: 39,055,386 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,969,846 (GRCm39)	Q405L	possibly damaging	Het
Robo2	A	G	16: 73,703,798 (GRCm39)	S30P		Het
Suclg1	G	T	6: 73,246,362 (GRCm39)	L218F	probably damaging	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Tdrd9	T	C	12: 112,002,889 (GRCm39)	L846P	probably damaging	Het
Tgfbi	A	G	13: 56,773,599 (GRCm39)	N199S	probably benign	Het
Traj35	C	T	14: 54,421,272 (GRCm39)	T14I		Het
Tril	A	G	6: 53,797,183 (GRCm39)	V13A	probably benign	Het
Tshz2	T	A	2: 169,727,278 (GRCm39)	S625T	probably benign	Het
Ttll12	A	G	15: 83,464,784 (GRCm39)	F464L	probably damaging	Het
Wdr35	T	C	12: 9,075,044 (GRCm39)		probably null	Het
Zfp346	A	G	13: 55,261,491 (GRCm39)	S94G	possibly damaging	Het
Zfp429	T	A	13: 67,538,331 (GRCm39)	Y371F	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,522 (GRCm39)	E186V	probably benign	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
R4285:Cfap73	UTSW	5	120,770,654 (GRCm39)	missense	possibly damaging	0.93
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
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'- CAGTCCACTTAGATTCCTGCGG -3'
(R):5'- ACCCTGGTAAGCACAAAGGC -3'

Sequencing Primer
(F):5'- GCCCAGATCGCAATTGAATTG -3'
(R):5'- CTGGTAAGCACAAAGGCAGCAC -3'

Posted On

2021-03-08