Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03309:Cfap221'

416484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap221

Ensembl Gene

ENSMUSG00000036962

Gene Name

cilia and flagella associated protein 221

Synonyms

Pcdp1, Gm101

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03309

Quality Score

Status

Chromosome

Chromosomal Location

119851071-119924964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119862331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 584 (Y584H)

Ref Sequence

ENSEMBL: ENSMUSP00000134576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037840] [ENSMUST00000174370]

AlphaFold

A9Q751

Predicted Effect

probably damaging
Transcript: ENSMUST00000037840
AA Change: Y584H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: Y584H

Domain	Start	End	E-Value	Type
low complexity region	292	301	N/A	INTRINSIC
low complexity region	456	468	N/A	INTRINSIC
low complexity region	614	626	N/A	INTRINSIC
low complexity region	754	771	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174370
AA Change: Y584H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: Y584H

Domain	Start	End	E-Value	Type
low complexity region	292	301	N/A	INTRINSIC
low complexity region	456	468	N/A	INTRINSIC
low complexity region	614	626	N/A	INTRINSIC
low complexity region	754	771	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,303 (GRCm39)	T334A	possibly damaging	Het
Armc9	A	G	1: 86,202,155 (GRCm39)	E771G	possibly damaging	Het
Cd207	G	T	6: 83,654,735 (GRCm39)	T16K	possibly damaging	Het
Cd44	C	T	2: 102,644,522 (GRCm39)	E421K	probably damaging	Het
Clock	A	G	5: 76,379,241 (GRCm39)		probably null	Het
Clpx	T	G	9: 65,229,974 (GRCm39)	L474R	probably damaging	Het
Cntd1	T	C	11: 101,175,590 (GRCm39)	V143A	probably damaging	Het
Cttnbp2	A	G	6: 18,381,035 (GRCm39)	V877A	probably damaging	Het
Dlx6	G	T	6: 6,867,289 (GRCm39)	M158I	possibly damaging	Het
Fank1	A	G	7: 133,463,902 (GRCm39)	T33A	probably damaging	Het
Fbf1	A	G	11: 116,038,637 (GRCm39)	L828P	probably damaging	Het
Fh1	A	T	1: 175,431,609 (GRCm39)	S426T	probably benign	Het
Gabrg3	G	T	7: 56,632,433 (GRCm39)	Q172K	probably damaging	Het
Glipr1l1	A	G	10: 111,908,141 (GRCm39)		probably benign	Het
Hypk	T	A	2: 121,288,673 (GRCm39)	L113*	probably null	Het
Hypk	G	T	2: 121,288,674 (GRCm39)	L113F	probably damaging	Het
Ipo5	G	A	14: 121,157,416 (GRCm39)	V85I	probably benign	Het
Kif1a	A	T	1: 92,986,579 (GRCm39)	Y575*	probably null	Het
Morf4l1	T	A	9: 89,985,798 (GRCm39)	E60V	probably benign	Het
Or52ac1	A	G	7: 104,246,248 (GRCm39)	F47L	probably benign	Het
Or6c6	A	T	10: 129,187,178 (GRCm39)	T249S	probably benign	Het
Parp4	A	T	14: 56,825,265 (GRCm39)	T130S	probably benign	Het
Prkd1	A	G	12: 50,435,207 (GRCm39)	Y507H	probably damaging	Het
Psme2b	A	C	11: 48,836,626 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,096,562 (GRCm39)		probably null	Het
Rngtt	C	A	4: 33,339,091 (GRCm39)	R299S	probably damaging	Het
Ros1	A	G	10: 51,994,357 (GRCm39)	S1308P	possibly damaging	Het
Rpl3l	A	G	17: 24,954,998 (GRCm39)	K398E	possibly damaging	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Srcap	A	G	7: 127,129,965 (GRCm39)	T616A	probably damaging	Het
Stk3	G	A	15: 35,099,697 (GRCm39)		probably benign	Het
Tas2r124	A	T	6: 132,731,898 (GRCm39)	D69V	probably benign	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het

Other mutations in Cfap221

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cfap221	APN	1	119,860,575 (GRCm39)	missense	possibly damaging	0.89
IGL00954:Cfap221	APN	1	119,861,939 (GRCm39)	missense	probably damaging	1.00
IGL01340:Cfap221	APN	1	119,881,350 (GRCm39)	missense	possibly damaging	0.76
IGL01413:Cfap221	APN	1	119,912,801 (GRCm39)	missense	possibly damaging	0.84
IGL01418:Cfap221	APN	1	119,912,801 (GRCm39)	missense	possibly damaging	0.84
IGL01730:Cfap221	APN	1	119,861,841 (GRCm39)	missense	probably benign	0.01
IGL01931:Cfap221	APN	1	119,860,625 (GRCm39)	missense	probably damaging	1.00
IGL02936:Cfap221	APN	1	119,912,482 (GRCm39)	missense	probably damaging	1.00
Ningxia	UTSW	1	119,881,389 (GRCm39)	missense	probably benign	0.08
R0365:Cfap221	UTSW	1	119,912,753 (GRCm39)	missense	probably benign	0.00
R0396:Cfap221	UTSW	1	119,881,930 (GRCm39)	missense	probably benign	0.00
R1505:Cfap221	UTSW	1	119,881,358 (GRCm39)	missense	probably benign	0.04
R1740:Cfap221	UTSW	1	119,873,558 (GRCm39)	missense	probably benign
R1873:Cfap221	UTSW	1	119,881,389 (GRCm39)	missense	probably benign	0.08
R1875:Cfap221	UTSW	1	119,881,389 (GRCm39)	missense	probably benign	0.08
R2205:Cfap221	UTSW	1	119,863,834 (GRCm39)	missense	possibly damaging	0.76
R3885:Cfap221	UTSW	1	119,881,876 (GRCm39)	critical splice donor site	probably null
R4290:Cfap221	UTSW	1	119,858,650 (GRCm39)	missense	probably benign	0.00
R4856:Cfap221	UTSW	1	119,912,488 (GRCm39)	missense	probably damaging	0.99
R4856:Cfap221	UTSW	1	119,861,934 (GRCm39)	missense	probably damaging	0.99
R4886:Cfap221	UTSW	1	119,912,488 (GRCm39)	missense	probably damaging	0.99
R4886:Cfap221	UTSW	1	119,861,934 (GRCm39)	missense	probably damaging	0.99
R4890:Cfap221	UTSW	1	119,883,476 (GRCm39)	missense	probably benign	0.01
R5623:Cfap221	UTSW	1	119,881,898 (GRCm39)	missense	probably benign	0.00
R5644:Cfap221	UTSW	1	119,860,532 (GRCm39)	missense	probably damaging	1.00
R5758:Cfap221	UTSW	1	119,862,288 (GRCm39)	missense	probably benign	0.00
R5959:Cfap221	UTSW	1	119,860,511 (GRCm39)	missense	probably damaging	1.00
R6145:Cfap221	UTSW	1	119,912,546 (GRCm39)	missense	possibly damaging	0.92
R6186:Cfap221	UTSW	1	119,862,340 (GRCm39)	missense	probably damaging	1.00
R6431:Cfap221	UTSW	1	119,860,583 (GRCm39)	missense	probably damaging	1.00
R6700:Cfap221	UTSW	1	119,883,421 (GRCm39)	missense	possibly damaging	0.71
R7109:Cfap221	UTSW	1	119,853,301 (GRCm39)	missense	possibly damaging	0.92
R7166:Cfap221	UTSW	1	119,875,843 (GRCm39)	missense	probably benign	0.06
R7273:Cfap221	UTSW	1	119,881,948 (GRCm39)	missense	possibly damaging	0.83
R7343:Cfap221	UTSW	1	119,922,828 (GRCm39)	missense	possibly damaging	0.92
R7486:Cfap221	UTSW	1	119,851,322 (GRCm39)	missense	possibly damaging	0.71
R7698:Cfap221	UTSW	1	119,889,659 (GRCm39)	nonsense	probably null
R8293:Cfap221	UTSW	1	119,909,504 (GRCm39)	missense	possibly damaging	0.84
R8389:Cfap221	UTSW	1	119,851,301 (GRCm39)	missense	probably damaging	0.99
R8510:Cfap221	UTSW	1	119,917,177 (GRCm39)	nonsense	probably null
R8849:Cfap221	UTSW	1	119,922,874 (GRCm39)	missense	probably damaging	1.00
R9093:Cfap221	UTSW	1	119,863,856 (GRCm39)	missense	probably damaging	1.00
R9290:Cfap221	UTSW	1	119,853,381 (GRCm39)	missense	probably benign	0.02
R9296:Cfap221	UTSW	1	119,883,467 (GRCm39)	missense	probably null	0.01
R9302:Cfap221	UTSW	1	119,853,365 (GRCm39)	missense	probably benign	0.17
R9402:Cfap221	UTSW	1	119,860,551 (GRCm39)	missense	probably benign	0.01
R9453:Cfap221	UTSW	1	119,853,361 (GRCm39)	missense	probably benign	0.01
R9572:Cfap221	UTSW	1	119,873,566 (GRCm39)	missense	probably damaging	0.96
R9708:Cfap221	UTSW	1	119,860,619 (GRCm39)	missense	probably damaging	1.00
R9725:Cfap221	UTSW	1	119,862,352 (GRCm39)	missense	probably benign	0.25
X0017:Cfap221	UTSW	1	119,889,719 (GRCm39)	splice site	probably null
Z1176:Cfap221	UTSW	1	119,922,871 (GRCm39)	missense	probably benign	0.00
Z1177:Cfap221	UTSW	1	119,912,473 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02