Mutagenetix > Incidental Mutations

Incidental Mutation 'R6164:Cfap100'

490038

Institutional Source

Beutler Lab

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

C030041G11Rik, C230069K22Rik, Ccdc37

MMRRC Submission

044310-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90403479-90428797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90415786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 114 (E114G)

Ref Sequence

ENSEMBL: ENSMUSP00000126515 (fasta)

Gene Model

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

AlphaFold

Q80VN0

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: ENSMUST00000153843

Predicted Effect

probably benign
Transcript: ENSMUST00000165673
AA Change: E114G

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: E114G

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584		probably null	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gulp1	A	C	1: 44,754,351	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nlrp4c	T	C	7: 6,092,508	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953		probably null	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	possibly 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
R6394:Cfap100	UTSW	6	90417623	missense	possibly damaging	0.58
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
R8835:Cfap100	UTSW	6	90409615	missense
R9080:Cfap100	UTSW	6	90406201	missense	unknown
R9124:Cfap100	UTSW	6	90409348	missense
R9185:Cfap100	UTSW	6	90413434	missense
Z1176:Cfap100	UTSW	6	90406150	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAGGTTTGCAGTGTCGGAC -3'
(R):5'- ATGCTCAGCAAGGTGTGTG -3'

Sequencing Primer
(F):5'- TCGGACACAGAGGGGGC -3'
(R):5'- TCTGGCACTGAAGAGGGTCAC -3'

Posted On

2017-10-10