Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Cfap210'

692583

Institutional Source

Beutler Lab

Gene Symbol

Cfap210

Ensembl Gene

ENSMUSG00000070883

Gene Name

cilia and flagella associated protein 210

Synonyms

4930578N16Rik, 4930525K21Rik, Ccdc173

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69588377-69619919 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 69612103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 175 (S175*)

Ref Sequence

ENSEMBL: ENSMUSP00000092548 (fasta)

Gene Model

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

AlphaFold

A0JLY1

Predicted Effect

probably null
Transcript: ENSMUST00000094942
AA Change: S175*

SMART Domains

Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: S175*

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

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

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Akap5	T	A	12: 76,374,592 (GRCm39)	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Atg3	T	C	16: 45,006,564 (GRCm39)	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Ccr7	A	G	11: 99,036,086 (GRCm39)	Y279H	probably damaging	Het
Clint1	A	G	11: 45,781,562 (GRCm39)	T211A	probably damaging	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Raly	T	A	2: 154,703,785 (GRCm39)	S119T	probably damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	probably damaging	Het

Other mutations in Cfap210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cfap210	APN	2	69,602,328 (GRCm39)	missense	probably benign
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
R9163:Cfap210	UTSW	2	69,606,510 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAGCTGTATTCGTTACGAGAAAGAC -3'
(R):5'- AGTGCCAGTTTCACCAGAC -3'

Sequencing Primer
(F):5'- GACACATGAACGCTCACTGATG -3'
(R):5'- GAAGCGCTTTCACGTACGATCTG -3'

Posted On

2021-12-30