Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Cfap221'

488782

Institutional Source

Beutler Lab

Gene Symbol

Cfap221

Ensembl Gene

ENSMUSG00000036962

Gene Name

cilia and flagella associated protein 221

Synonyms

Gm101, Pcdp1

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119923341-119997234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119984816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 114 (I114F)

Ref Sequence

ENSEMBL: ENSMUSP00000134576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037840] [ENSMUST00000174370] [ENSMUST00000174458]

AlphaFold

A9Q751

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037840
AA Change: I114F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: I114F

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

possibly damaging
Transcript: ENSMUST00000174370
AA Change: I114F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: I114F

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

possibly damaging
Transcript: ENSMUST00000174458
AA Change: I114F

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174509

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably damaging	Het

Other mutations in Cfap221

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cfap221	APN	1	119932845	missense	possibly damaging	0.89
IGL00954:Cfap221	APN	1	119934209	missense	probably damaging	1.00
IGL01340:Cfap221	APN	1	119953620	missense	possibly damaging	0.76
IGL01413:Cfap221	APN	1	119985071	missense	possibly damaging	0.84
IGL01418:Cfap221	APN	1	119985071	missense	possibly damaging	0.84
IGL01730:Cfap221	APN	1	119934111	missense	probably benign	0.01
IGL01931:Cfap221	APN	1	119932895	missense	probably damaging	1.00
IGL02936:Cfap221	APN	1	119984752	missense	probably damaging	1.00
IGL03309:Cfap221	APN	1	119934601	missense	probably damaging	1.00
Ningxia	UTSW	1	119953659	missense	probably benign	0.08
R0365:Cfap221	UTSW	1	119985023	missense	probably benign	0.00
R0396:Cfap221	UTSW	1	119954200	missense	probably benign	0.00
R1505:Cfap221	UTSW	1	119953628	missense	probably benign	0.04
R1740:Cfap221	UTSW	1	119945828	missense	probably benign
R1873:Cfap221	UTSW	1	119953659	missense	probably benign	0.08
R1875:Cfap221	UTSW	1	119953659	missense	probably benign	0.08
R2205:Cfap221	UTSW	1	119936104	missense	possibly damaging	0.76
R3885:Cfap221	UTSW	1	119954146	critical splice donor site	probably null
R4290:Cfap221	UTSW	1	119930920	missense	probably benign	0.00
R4856:Cfap221	UTSW	1	119934204	missense	probably damaging	0.99
R4856:Cfap221	UTSW	1	119984758	missense	probably damaging	0.99
R4886:Cfap221	UTSW	1	119934204	missense	probably damaging	0.99
R4886:Cfap221	UTSW	1	119984758	missense	probably damaging	0.99
R4890:Cfap221	UTSW	1	119955746	missense	probably benign	0.01
R5623:Cfap221	UTSW	1	119954168	missense	probably benign	0.00
R5644:Cfap221	UTSW	1	119932802	missense	probably damaging	1.00
R5758:Cfap221	UTSW	1	119934558	missense	probably benign	0.00
R5959:Cfap221	UTSW	1	119932781	missense	probably damaging	1.00
R6186:Cfap221	UTSW	1	119934610	missense	probably damaging	1.00
R6431:Cfap221	UTSW	1	119932853	missense	probably damaging	1.00
R6700:Cfap221	UTSW	1	119955691	missense	possibly damaging	0.71
R7109:Cfap221	UTSW	1	119925571	missense	possibly damaging	0.92
R7166:Cfap221	UTSW	1	119948113	missense	probably benign	0.06
R7273:Cfap221	UTSW	1	119954218	missense	possibly damaging	0.83
R7343:Cfap221	UTSW	1	119995098	missense	possibly damaging	0.92
R7486:Cfap221	UTSW	1	119923592	missense	possibly damaging	0.71
R7698:Cfap221	UTSW	1	119961929	nonsense	probably null
R8293:Cfap221	UTSW	1	119981774	missense	possibly damaging	0.84
R8389:Cfap221	UTSW	1	119923571	missense	probably damaging	0.99
R8510:Cfap221	UTSW	1	119989447	nonsense	probably null
R8849:Cfap221	UTSW	1	119995144	missense	probably damaging	1.00
R9093:Cfap221	UTSW	1	119936126	missense	probably damaging	1.00
R9290:Cfap221	UTSW	1	119925651	missense	probably benign	0.02
R9296:Cfap221	UTSW	1	119955737	missense	probably null	0.01
R9302:Cfap221	UTSW	1	119925635	missense	probably benign	0.17
R9402:Cfap221	UTSW	1	119932821	missense	probably benign	0.01
R9453:Cfap221	UTSW	1	119925631	missense	probably benign	0.01
R9572:Cfap221	UTSW	1	119945836	missense	probably damaging	0.96
R9708:Cfap221	UTSW	1	119932889	missense	probably damaging	1.00
R9725:Cfap221	UTSW	1	119934622	missense	probably benign	0.25
X0017:Cfap221	UTSW	1	119961989	splice site	probably null
Z1176:Cfap221	UTSW	1	119995141	missense	probably benign	0.00
Z1177:Cfap221	UTSW	1	119984743	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATAGGTCTGTCTAGTTGTCC -3'
(R):5'- AGAAGGTATTGTCCCTGGATCAC -3'

Sequencing Primer
(F):5'- CTTTGTCTTCCTTCAGGATCAGGAC -3'
(R):5'- TGGATCACCTTCCCTGATGAGG -3'

Posted On

2017-10-10