Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00392:Cfap210'

7170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap210

Ensembl Gene

ENSMUSG00000070883

Gene Name

cilia and flagella associated protein 210

Synonyms

4930578N16Rik, 4930525K21Rik, Ccdc173

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL00392

Quality Score

Status

Chromosome

Chromosomal Location

69588377-69619919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69602328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 361 (H361R)

Ref Sequence

ENSEMBL: ENSMUSP00000092548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094942]

AlphaFold

A0JLY1

Predicted Effect

probably benign
Transcript: ENSMUST00000094942
AA Change: H361R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: H361R

Domain	Start	End	E-Value	Type
coiled coil region	47	131	N/A	INTRINSIC
Pfam:TPH	142	475	8.9e-22	PFAM
low complexity region	494	508	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,727,757 (GRCm39)	Y296H	possibly damaging	Het
Armh3	T	G	19: 45,928,927 (GRCm39)	H389P	probably benign	Het
Brca2	A	G	5: 150,464,705 (GRCm39)	T1490A	probably benign	Het
Btaf1	A	T	19: 36,987,102 (GRCm39)	D1732V	probably damaging	Het
Capzb	T	C	4: 139,016,258 (GRCm39)	I273T	probably benign	Het
Carmil1	G	A	13: 24,278,474 (GRCm39)	T165I	probably damaging	Het
Cc2d2a	A	G	5: 43,881,722 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,521 (GRCm39)	Y667H	possibly damaging	Het
Celsr1	T	A	15: 85,815,546 (GRCm39)	Q1823L	probably benign	Het
Cntrl	T	C	2: 35,027,826 (GRCm39)		probably benign	Het
Dhx15	A	T	5: 52,314,924 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,543,144 (GRCm39)	D30V	probably damaging	Het
Dyrk2	T	C	10: 118,695,749 (GRCm39)	D503G	probably damaging	Het
Enpp1	T	A	10: 24,521,325 (GRCm39)	I801F	possibly damaging	Het
Fnbp4	A	C	2: 90,581,966 (GRCm39)		probably benign	Het
Klk1b5	T	A	7: 43,865,928 (GRCm39)	W2R	probably benign	Het
Lama2	T	C	10: 27,064,261 (GRCm39)	K1240R	probably benign	Het
Matn2	A	G	15: 34,403,002 (GRCm39)	N409S	probably benign	Het
Mep1b	A	T	18: 21,217,243 (GRCm39)	K121*	probably null	Het
Mettl26	T	C	17: 26,095,098 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,224,845 (GRCm39)	E574G	probably damaging	Het
Nfkbie	G	A	17: 45,871,139 (GRCm39)		probably null	Het
Nlrc4	T	C	17: 74,753,529 (GRCm39)	R285G	probably benign	Het
Pax8	T	C	2: 24,333,144 (GRCm39)	Y66C	probably damaging	Het
Plxna2	A	G	1: 194,482,876 (GRCm39)	D1523G	probably damaging	Het
Pou2f1	A	G	1: 165,724,159 (GRCm39)		probably benign	Het
Prom1	A	G	5: 44,164,363 (GRCm39)		probably null	Het
Ptk6	T	C	2: 180,837,611 (GRCm39)	D436G	probably benign	Het
Robo4	T	A	9: 37,319,525 (GRCm39)	F592I	probably damaging	Het
Sec24c	C	A	14: 20,743,271 (GRCm39)	S964R	probably benign	Het
Sgcb	G	T	5: 73,793,021 (GRCm39)	N260K	possibly damaging	Het
Smarcd2	T	C	11: 106,156,730 (GRCm39)	D221G	probably damaging	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Zfpl1	C	A	19: 6,131,137 (GRCm39)	R285L	possibly damaging	Het

Other mutations in Cfap210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Cfap210	APN	2	69,612,471 (GRCm39)	splice site	probably benign
IGL01801:Cfap210	APN	2	69,606,623 (GRCm39)	splice site	probably benign
R0553:Cfap210	UTSW	2	69,619,785 (GRCm39)	missense	probably damaging	1.00
R1226:Cfap210	UTSW	2	69,617,553 (GRCm39)	missense	possibly damaging	0.63
R1867:Cfap210	UTSW	2	69,612,181 (GRCm39)	splice site	probably null
R4821:Cfap210	UTSW	2	69,612,452 (GRCm39)	missense	possibly damaging	0.76
R5309:Cfap210	UTSW	2	69,617,602 (GRCm39)	missense	possibly damaging	0.92
R5312:Cfap210	UTSW	2	69,617,602 (GRCm39)	missense	possibly damaging	0.92
R5916:Cfap210	UTSW	2	69,619,806 (GRCm39)	start codon destroyed	probably null	0.95
R6072:Cfap210	UTSW	2	69,602,402 (GRCm39)	missense	probably benign	0.31
R6232:Cfap210	UTSW	2	69,602,398 (GRCm39)	missense	possibly damaging	0.64
R6236:Cfap210	UTSW	2	69,588,385 (GRCm39)	splice site	probably null
R6909:Cfap210	UTSW	2	69,612,192 (GRCm39)	splice site	probably null
R7497:Cfap210	UTSW	2	69,588,792 (GRCm39)	missense	probably benign	0.04
R7502:Cfap210	UTSW	2	69,606,488 (GRCm39)	missense	probably benign
R7786:Cfap210	UTSW	2	69,612,092 (GRCm39)	missense	probably damaging	1.00
R7934:Cfap210	UTSW	2	69,612,450 (GRCm39)	nonsense	probably null
R8316:Cfap210	UTSW	2	69,612,287 (GRCm39)	critical splice donor site	probably null
R8905:Cfap210	UTSW	2	69,612,104 (GRCm39)	missense	probably benign	0.01
R8977:Cfap210	UTSW	2	69,617,643 (GRCm39)	missense	possibly damaging	0.55
R9117:Cfap210	UTSW	2	69,612,103 (GRCm39)	nonsense	probably null
R9163:Cfap210	UTSW	2	69,606,510 (GRCm39)	missense	probably benign	0.13

Posted On

2012-04-20