Mutagenetix > Incidental Mutation

Incidental Mutation 'R5160:Cfap100'

396930

Institutional Source

Beutler Lab

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

Ccdc37, C230069K22Rik, C030041G11Rik

MMRRC Submission

042742-MU

Accession Numbers

Essential gene?

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

Stock #

R5160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 90390692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126515 (fasta)

Gene Model

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

AlphaFold

Q80VN0

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000165673

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794

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

Predicted Effect

probably null
Transcript: ENSMUST00000165673

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	G	A	11: 20,662,197 (GRCm39)	P681L	probably benign	Het
Akap9	A	G	5: 4,080,007 (GRCm39)	R1920G	probably damaging	Het
Ano9	G	A	7: 140,684,278 (GRCm39)	R495C	probably damaging	Het
Apoa5	A	G	9: 46,181,794 (GRCm39)	Y290C	probably damaging	Het
Apob	T	C	12: 8,062,126 (GRCm39)	I3536T	possibly damaging	Het
Arhgap42	T	G	9: 8,997,656 (GRCm39)	K823T	probably damaging	Het
Bicc1	T	C	10: 70,768,066 (GRCm39)	Y850C	probably damaging	Het
Cdh2	A	T	18: 16,762,644 (GRCm39)	D433E	probably damaging	Het
Col6a5	T	C	9: 105,808,208 (GRCm39)	N947D	unknown	Het
Col8a2	A	G	4: 126,204,205 (GRCm39)	K72E	possibly damaging	Het
Ddx18	A	G	1: 121,493,608 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,782,933 (GRCm39)	V21A	probably benign	Het
Dnaja3	T	A	16: 4,502,152 (GRCm39)	M52K	probably benign	Het
Fnip2	G	A	3: 79,396,298 (GRCm39)	T504I	probably damaging	Het
Il18	G	A	9: 50,489,193 (GRCm39)		probably null	Het
Ina	T	A	19: 47,003,519 (GRCm39)	I109N	probably damaging	Het
Katnb1	G	T	8: 95,822,098 (GRCm39)	V275L	probably benign	Het
Kdm6b	C	A	11: 69,291,594 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,547,177 (GRCm39)	L251Q	probably damaging	Het
Kmt2d	A	G	15: 98,738,105 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,544,053 (GRCm39)	V82E	probably damaging	Het
Limk2	A	C	11: 3,300,772 (GRCm39)	V190G	probably damaging	Het
Luc7l	A	G	17: 26,486,271 (GRCm39)	D150G	probably benign	Het
Magi3	T	A	3: 103,935,224 (GRCm39)	H903L	possibly damaging	Het
Mdh1b	C	T	1: 63,764,804 (GRCm39)	R33Q	probably null	Het
Myo9a	T	C	9: 59,779,085 (GRCm39)	F1614L	probably benign	Het
Ngly1	A	G	14: 16,281,751 (GRCm38)	T210A	probably damaging	Het
Oas1h	A	G	5: 121,009,145 (GRCm39)	Y285C	probably damaging	Het
Or1l4b	T	A	2: 37,036,815 (GRCm39)	M197K	probably benign	Het
Or2h1	T	C	17: 37,404,616 (GRCm39)	D50G	possibly damaging	Het
Or2y12	T	C	11: 49,426,516 (GRCm39)	L168P	probably damaging	Het
Or4a79	T	C	2: 89,551,763 (GRCm39)	R231G	probably damaging	Het
Or5ac25	C	T	16: 59,182,129 (GRCm39)	G151R	probably damaging	Het
Or9s23	C	T	1: 92,501,544 (GRCm39)	T217I	probably benign	Het
Osbpl7	T	C	11: 96,945,382 (GRCm39)	S81P	probably damaging	Het
Pcdha3	T	C	18: 37,079,480 (GRCm39)	V74A	probably damaging	Het
Pi4ka	T	C	16: 17,140,917 (GRCm39)	D68G	probably benign	Het
Prkcz	A	T	4: 155,377,689 (GRCm39)	V79D	probably benign	Het
Ptpn12	T	A	5: 21,202,829 (GRCm39)	I650F	probably damaging	Het
Rb1	A	G	14: 73,501,895 (GRCm39)		silent	Het
Rnaseh2b	T	G	14: 62,590,980 (GRCm39)	Y56*	probably null	Het
Ryr3	A	T	2: 112,477,272 (GRCm39)	C4495S	probably damaging	Het
Tk1	A	G	11: 117,715,572 (GRCm39)	I45T	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Upp1	T	C	11: 9,085,193 (GRCm39)	S227P	possibly damaging	Het
Vmn1r30	T	A	6: 58,412,368 (GRCm39)	N155Y	probably benign	Het
Wdr35	C	T	12: 9,058,487 (GRCm39)	A548V	probably damaging	Het
Zc3h3	A	T	15: 75,681,512 (GRCm39)	M523K	probably benign	Het
Zc3h4	T	C	7: 16,168,573 (GRCm39)	L894P	unknown	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het
Zfp873	C	T	10: 81,896,876 (GRCm39)	H536Y	possibly damaging	Het
Zmym4	A	T	4: 126,763,977 (GRCm39)	N1354K	probably damaging	Het
Zscan20	A	G	4: 128,486,275 (GRCm39)	S142P	possibly damaging	Het

Other mutations in Cfap100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Cfap100	APN	6	90,392,787 (GRCm39)	missense	probably benign	0.36
IGL01067:Cfap100	APN	6	90,383,096 (GRCm39)	missense	probably damaging	1.00
IGL01347:Cfap100	APN	6	90,383,103 (GRCm39)	missense	possibly damaging	0.65
IGL01803:Cfap100	APN	6	90,392,717 (GRCm39)	missense	probably benign	0.29
IGL01910:Cfap100	APN	6	90,386,606 (GRCm39)	missense	probably damaging	0.99
IGL02086:Cfap100	APN	6	90,390,954 (GRCm39)	missense	probably damaging	1.00
IGL02680:Cfap100	APN	6	90,389,217 (GRCm39)	missense	probably benign	0.03
IGL03046:Cfap100	APN	6	90,389,332 (GRCm39)	splice site	probably null
R0391:Cfap100	UTSW	6	90,382,321 (GRCm39)	splice site	probably benign
R0883:Cfap100	UTSW	6	90,392,888 (GRCm39)	splice site	probably benign
R1022:Cfap100	UTSW	6	90,389,986 (GRCm39)	missense	possibly damaging	0.50
R1024:Cfap100	UTSW	6	90,389,986 (GRCm39)	missense	possibly damaging	0.50
R1086:Cfap100	UTSW	6	90,380,890 (GRCm39)	nonsense	probably null
R1440:Cfap100	UTSW	6	90,389,166 (GRCm39)	missense	probably benign	0.06
R1914:Cfap100	UTSW	6	90,389,329 (GRCm39)	splice site	probably benign
R1915:Cfap100	UTSW	6	90,389,329 (GRCm39)	splice site	probably benign
R2257:Cfap100	UTSW	6	90,390,802 (GRCm39)	missense	possibly damaging	0.83
R4370:Cfap100	UTSW	6	90,390,376 (GRCm39)	missense	probably damaging	1.00
R4739:Cfap100	UTSW	6	90,389,825 (GRCm39)	critical splice donor site	probably null
R4895:Cfap100	UTSW	6	90,383,084 (GRCm39)	missense	possibly damaging	0.95
R5983:Cfap100	UTSW	6	90,396,373 (GRCm39)	intron	probably benign
R6164:Cfap100	UTSW	6	90,392,768 (GRCm39)	missense	probably benign	0.15
R6394:Cfap100	UTSW	6	90,394,605 (GRCm39)	missense	possibly damaging	0.58
R6658:Cfap100	UTSW	6	90,390,400 (GRCm39)	missense	probably damaging	0.99
R7094:Cfap100	UTSW	6	90,390,436 (GRCm39)	missense
R7254:Cfap100	UTSW	6	90,383,043 (GRCm39)	missense	unknown
R7922:Cfap100	UTSW	6	90,380,962 (GRCm39)	missense	unknown
R7983:Cfap100	UTSW	6	90,392,687 (GRCm39)	missense
R8169:Cfap100	UTSW	6	90,394,656 (GRCm39)	missense
R8490:Cfap100	UTSW	6	90,390,721 (GRCm39)	utr 3 prime	probably benign
R8835:Cfap100	UTSW	6	90,386,597 (GRCm39)	missense
R9080:Cfap100	UTSW	6	90,383,183 (GRCm39)	missense	unknown
R9124:Cfap100	UTSW	6	90,386,330 (GRCm39)	missense
R9185:Cfap100	UTSW	6	90,390,416 (GRCm39)	missense
R9663:Cfap100	UTSW	6	90,386,328 (GRCm39)	missense
Z1176:Cfap100	UTSW	6	90,383,132 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAACCAGGAGGCCAATCATG -3'
(R):5'- TAGCTTGGTTCTGGCTCAGC -3'

Sequencing Primer
(F):5'- AAGAAGCCGTGGCCTTAGC -3'
(R):5'- TCAGCCAGGTGCCCTCATG -3'

Posted On

2016-06-21