Mutagenetix > Incidental Mutations

Incidental Mutation 'R7166:Cfap221'

557912

Institutional Source

Beutler Lab

Gene Symbol

Cfap221

Ensembl Gene

ENSMUSG00000036962

Gene Name

cilia and flagella associated protein 221

Synonyms

Gm101, Pcdp1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119923341-119997234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119948113 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 449 (V449A)

Ref Sequence

ENSEMBL: ENSMUSP00000037703 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037840
AA Change: V449A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: V449A

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 benign
Transcript: ENSMUST00000174370
AA Change: V449A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: V449A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,467,528	L272P	possibly damaging	Het
Ash2l	C	A	8: 25,827,320	G335V	probably damaging	Het
Atp13a1	T	A	8: 69,799,316		probably null	Het
Atp13a2	G	A	4: 141,006,984	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,796,397	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,842,951	C2512F	probably damaging	Het
Cfhr2	A	T	1: 139,831,101	C70*	probably null	Het
Chfr	C	A	5: 110,158,805	P472Q	probably benign	Het
Crybg2	G	A	4: 134,060,882	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,884,772	F244L	probably damaging	Het
Efcab11	A	T	12: 99,883,355	M23K		Het
Ercc8	T	A	13: 108,169,433	M114K	possibly damaging	Het
Fam217a	T	C	13: 34,910,315	Y487C	probably benign	Het
Farsb	T	C	1: 78,471,184	N205S	probably benign	Het
Glra1	A	G	11: 55,515,078	F370S	probably benign	Het
Gm12258	T	A	11: 58,858,473	M158K		Het
Gm14305	T	A	2: 176,720,943	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,378,201	Q611L	unknown	Het
Gm5580	A	G	6: 116,551,368	I69V	probably benign	Het
Haus6	T	C	4: 86,583,687	E649G	possibly damaging	Het
Hist1h4j	A	G	13: 21,735,151	H19R	unknown	Het
Hlcs	C	T	16: 94,262,726	D345N	possibly damaging	Het
Htt	C	A	5: 34,852,894	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,378,190	V481I	probably benign	Het
Jak3	T	C	8: 71,682,316	I531T	probably damaging	Het
Kng1	T	A	16: 23,079,678	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446	S4131T	probably damaging	Het
Npnt	A	G	3: 132,948,128	S31P	probably damaging	Het
Olfr1098	T	A	2: 86,922,748	K261N	probably damaging	Het
Olfr1186	A	T	2: 88,525,646	Q21L	possibly damaging	Het
Olfr398	A	T	11: 73,984,295	F104L	possibly damaging	Het
Paxx	A	T	2: 25,460,226	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528	R144Q	unknown	Het
Rab2b	C	A	14: 52,279,345		probably benign	Het
Rnf207	A	G	4: 152,311,780	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,509	Q12R		Het
Ryr3	T	G	2: 112,875,028	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,812,812	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,198,829	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,883,839	T537A	probably benign	Het
Slc9b2	T	C	3: 135,326,178	Y132H	unknown	Het
Sltm	T	C	9: 70,584,850	L725S	probably damaging	Het
Spz1	A	G	13: 92,575,927	C14R	probably benign	Het
Srrm4	T	A	5: 116,471,242	Q172L	unknown	Het
Synj2bp	T	C	12: 81,504,515	D92G	probably benign	Het
Tmem169	A	C	1: 72,301,070	T220P	probably benign	Het
Ttn	T	A	2: 76,888,028	I7270F	unknown	Het
Txndc16	T	G	14: 45,183,154	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,145	Y2499H		Het
Ugt2b38	T	C	5: 87,410,446	D452G	probably damaging	Het
Zfp12	T	A	5: 143,245,502	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,749,512	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,088,499	C492S	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
R6145:Cfap221	UTSW	1	119984816	missense	possibly damaging	0.92
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
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
X0017:Cfap221	UTSW	1	119961989	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGTGAATGGCATCTCTAATG -3'
(R):5'- GAGACTGTCTCAAGAAACAAGTGC -3'

Sequencing Primer
(F):5'- GAATGGCATCTCTAATGGTCTGTCC -3'
(R):5'- GCTGCTCTCAGTTTGAAGACCAAG -3'

Posted On

2019-06-26