Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Cfap100'

697302

Institutional Source

Beutler Lab

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

Ccdc37, C230069K22Rik, C030041G11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90390416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Ref Sequence

ENSEMBL: ENSMUSP00000059976 (fasta)

Gene Model

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

AlphaFold

Q80VN0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: T75A

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

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: T229A

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: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	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
R5160:Cfap100	UTSW	6	90,390,692 (GRCm39)	critical splice donor site	probably null
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
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'- TAAGTGTCCGTTGCAGCAC -3'
(R):5'- TAGCTGGACCTGGAACCATG -3'

Sequencing Primer
(F):5'- TCCGTTGCAGCACCACCC -3'
(R):5'- CAGGCCCTGATCTCAACCTATGG -3'

Posted On

2022-02-07