Mutagenetix > Incidental Mutations

Incidental Mutation 'R6394:Cfap100'

515931

Institutional Source

Beutler Lab

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

C030041G11Rik, C230069K22Rik, Ccdc37

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90403479-90428797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90417623 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 74 (N74I)

Ref Sequence

ENSEMBL: ENSMUSP00000126515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000127508] [ENSMUST00000134224] [ENSMUST00000153843] [ENSMUST00000165673]

Predicted Effect

probably benign
Transcript: ENSMUST00000062750

SMART Domains

Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794

Domain	Start	End	E-Value	Type
Pfam:DUF4200	1	127	5.4e-26	PFAM
coiled coil region	242	282	N/A	INTRINSIC
low complexity region	289	309	N/A	INTRINSIC
coiled coil region	374	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127508

Predicted Effect

probably benign
Transcript: ENSMUST00000134224

Predicted Effect

probably benign
Transcript: ENSMUST00000153843

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165673
AA Change: N74I

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: N74I

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
Pfam:DUF4200	154	272	1.2e-35	PFAM
coiled coil region	396	436	N/A	INTRINSIC
low complexity region	443	463	N/A	INTRINSIC
coiled coil region	528	581	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,792	L174*	probably null	Het
Akap11	A	T	14: 78,522,589		probably null	Het
Alpi	T	A	1: 87,100,706	Y154F	possibly damaging	Het
Als2	A	T	1: 59,167,197	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,383,849	V60M	probably damaging	Het
Atp10b	A	G	11: 43,225,637	Y937C	probably damaging	Het
Brd4	C	A	17: 32,224,147	E167*	probably null	Het
Cacna1h	G	A	17: 25,387,481	T1048I	probably benign	Het
Ccdc113	A	G	8: 95,557,192	D298G	probably benign	Het
Chd8	A	T	14: 52,202,585	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,307,590	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,313,238	T843A	possibly damaging	Het
Clcn3	C	T	8: 60,941,291	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,143,737	N355K	probably benign	Het
Dnah6	A	T	6: 73,155,418	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,686,786	E317G	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Evc2	C	A	5: 37,378,275	D431E	probably damaging	Het
Gcm2	T	G	13: 41,109,897	T20P	probably damaging	Het
Gdf9	A	G	11: 53,436,697	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,285,677		probably benign	Het
Gm9573	A	T	17: 35,620,166		probably benign	Het
Gpalpp1	A	T	14: 76,107,412	S44T	possibly damaging	Het
Grip2	T	C	6: 91,787,201	Y134C	probably damaging	Het
Hephl1	A	G	9: 15,074,101	F753S	probably benign	Het
Herc1	A	G	9: 66,395,059	T727A	probably damaging	Het
Herc2	A	G	7: 56,215,981	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,729,015	L726P	probably benign	Het
Itga11	T	A	9: 62,735,266		probably null	Het
Jrkl	A	C	9: 13,245,490	Y55*	probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,914,410	V303A	probably damaging	Het
Klhl29	A	T	12: 5,094,830	C423*	probably null	Het
Klhl29	T	C	12: 5,137,720	S215G	probably benign	Het
Lamp5	A	G	2: 136,061,009	D216G	possibly damaging	Het
Leo1	T	A	9: 75,445,470	D98E	probably benign	Het
Map3k3	T	C	11: 106,148,883	V283A	probably benign	Het
Med12l	A	G	3: 59,235,087	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316	D202Y	probably benign	Het
Olfr1201	C	T	2: 88,794,952	T190I	probably benign	Het
Olfr239	G	A	17: 33,199,513	G155D	probably damaging	Het
Olfr488	C	T	7: 108,255,763	R125H	possibly damaging	Het
Olfr657	T	A	7: 104,635,702	N9K	possibly damaging	Het
Olfr657	T	C	7: 104,636,027	S118P	possibly damaging	Het
Olfr816	G	T	10: 129,911,920	D119E	probably damaging	Het
Olfr979	T	C	9: 40,000,705	Q174R	probably benign	Het
Onecut3	A	G	10: 80,496,013	I336V	probably damaging	Het
Oprl1	C	T	2: 181,719,002	R257C	probably damaging	Het
Osbpl6	T	C	2: 76,555,954	V207A	probably benign	Het
Pde3a	A	T	6: 141,487,511	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phyh	A	G	2: 4,936,003	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,761,598	N92K	probably benign	Het
Pole3	T	C	4: 62,524,026		probably benign	Het
Ppm1d	T	C	11: 85,339,672	V372A	probably benign	Het
Prpf40a	A	T	2: 53,144,878	I766N	probably damaging	Het
Prr5	T	A	15: 84,699,724	V175E	probably damaging	Het
Ptprq	T	A	10: 107,642,943	K1280*	probably null	Het
Rbp2	T	A	9: 98,507,820	V95E	possibly damaging	Het
Rictor	T	C	15: 6,769,309	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn10a	T	A	9: 119,661,320	I519F	probably benign	Het
Setd5	T	G	6: 113,115,544	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,736,176	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,434,097	G243E	probably damaging	Het
Smg9	T	C	7: 24,422,307	Y498H	probably damaging	Het
Sox5	T	C	6: 144,041,313	D175G	probably damaging	Het
Stard7	A	G	2: 127,284,241	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,899,231	Y59*	probably null	Het
Supt6	G	A	11: 78,231,065	R254C	probably damaging	Het
Syne2	C	T	12: 75,990,495	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,755,076	I116N	probably damaging	Het
Trim9	T	A	12: 70,255,213	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 10,040,326	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,846,023	E126*	probably null	Het
Zswim9	A	T	7: 13,260,963	S422R	probably damaging	Het

Other mutations in Cfap100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Cfap100	APN	6	90415805	missense	probably benign	0.36
IGL01067:Cfap100	APN	6	90406114	missense	probably damaging	1.00
IGL01347:Cfap100	APN	6	90406121	missense	possibly damaging	0.65
IGL01803:Cfap100	APN	6	90415735	missense	probably benign	0.29
IGL01910:Cfap100	APN	6	90409624	missense	probably damaging	0.99
IGL02086:Cfap100	APN	6	90413972	missense	probably damaging	1.00
IGL02680:Cfap100	APN	6	90412235	missense	probably benign	0.03
IGL03046:Cfap100	APN	6	90412350	splice site	probably null
R0391:Cfap100	UTSW	6	90405339	splice site	probably benign
R0883:Cfap100	UTSW	6	90415906	splice site	probably benign
R1022:Cfap100	UTSW	6	90413004	missense	possibly damaging	0.50
R1024:Cfap100	UTSW	6	90413004	missense	possibly damaging	0.50
R1086:Cfap100	UTSW	6	90403908	nonsense	probably null
R1440:Cfap100	UTSW	6	90412184	missense	probably benign	0.06
R1914:Cfap100	UTSW	6	90412347	splice site	probably benign
R1915:Cfap100	UTSW	6	90412347	splice site	probably benign
R2257:Cfap100	UTSW	6	90413820	missense	possibly damaging	0.83
R4370:Cfap100	UTSW	6	90413394	missense	probably damaging	1.00
R4739:Cfap100	UTSW	6	90412843	critical splice donor site	probably null
R4895:Cfap100	UTSW	6	90406102	missense	possibly damaging	0.95
R5160:Cfap100	UTSW	6	90413710	critical splice donor site	probably null
R5983:Cfap100	UTSW	6	90419391	intron	probably benign
R6164:Cfap100	UTSW	6	90415786	missense	probably benign	0.15
R6658:Cfap100	UTSW	6	90413418	missense	probably damaging	0.99
R7094:Cfap100	UTSW	6	90413454	missense
R7254:Cfap100	UTSW	6	90406061	missense	unknown
R7922:Cfap100	UTSW	6	90403980	missense	unknown
R7983:Cfap100	UTSW	6	90415705	missense
R8169:Cfap100	UTSW	6	90417674	missense
R8490:Cfap100	UTSW	6	90413739	utr 3 prime	probably benign
Z1176:Cfap100	UTSW	6	90406150	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAATGGCAGGTCTCACAGG -3'
(R):5'- TCAGGACCCAAGAGAAGACTTTG -3'

Sequencing Primer
(F):5'- CAGGTCTCACAGGGGAGAGTG -3'
(R):5'- CCCAAGAGAAGACTTTGGGGGTG -3'

Posted On

2018-05-04