Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03046:Cfap100'

408916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

Ccdc37, C230069K22Rik, C030041G11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03046 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 90389332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126515 (fasta)

Gene Model

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

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,282 (GRCm39)	M717K	probably benign	Het
Acad12	C	A	5: 121,748,029 (GRCm39)	V130L	probably benign	Het
Cdca2	T	C	14: 67,937,471 (GRCm39)		probably benign	Het
Cfap43	T	A	19: 47,804,302 (GRCm39)	E298V	probably damaging	Het
Cic	C	T	7: 24,990,500 (GRCm39)	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,761,681 (GRCm39)	D611G	probably benign	Het
Daglb	C	T	5: 143,486,948 (GRCm39)	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,710,597 (GRCm39)	I438K	probably benign	Het
Ddx5	C	A	11: 106,675,871 (GRCm39)	R273M	probably damaging	Het
Eepd1	C	T	9: 25,393,981 (GRCm39)	L82F	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Exoc6	T	C	19: 37,582,217 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Foxs1	T	C	2: 152,774,484 (GRCm39)	T190A	probably benign	Het
Gje1	A	G	10: 14,592,374 (GRCm39)	L136P	probably damaging	Het
Hdac11	A	G	6: 91,145,827 (GRCm39)	T176A	probably benign	Het
Hhip	C	A	8: 80,698,967 (GRCm39)	V700L	probably damaging	Het
Hps5	T	C	7: 46,426,463 (GRCm39)		probably benign	Het
Itgb1bp1	T	C	12: 21,329,436 (GRCm39)	S13G	unknown	Het
Kcna1	A	T	6: 126,619,148 (GRCm39)	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,010,128 (GRCm39)	V6M	probably damaging	Het
Klhl6	T	C	16: 19,801,639 (GRCm39)	I39V	probably benign	Het
Lpcat4	C	A	2: 112,072,334 (GRCm39)		silent	Het
Ltn1	A	T	16: 87,202,509 (GRCm39)	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495 (GRCm39)	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,421,055 (GRCm39)	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,529,577 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,059 (GRCm39)	I333M	probably benign	Het
Muc5ac	G	T	7: 141,348,950 (GRCm39)	C463F	probably benign	Het
Mycbpap	G	T	11: 94,396,543 (GRCm39)	T99N	possibly damaging	Het
Myo7a	C	T	7: 97,728,534 (GRCm39)	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,948,303 (GRCm39)	H311R	probably damaging	Het
Nepro	T	A	16: 44,552,509 (GRCm39)		probably benign	Het
Nop56	A	T	2: 130,117,489 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,995,978 (GRCm39)		probably benign	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or7g25	T	A	9: 19,160,441 (GRCm39)	I85F	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pgap6	A	T	17: 26,338,414 (GRCm39)		probably null	Het
Pkhd1	T	G	1: 20,607,589 (GRCm39)	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,485,756 (GRCm39)	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,303,612 (GRCm39)		probably benign	Het
Prss43	C	G	9: 110,660,049 (GRCm39)	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,741,942 (GRCm39)	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,384,109 (GRCm39)	V131A	probably benign	Het
Rtp1	A	T	16: 23,248,044 (GRCm39)	K39M	probably benign	Het
Sanbr	A	T	11: 23,565,150 (GRCm39)	L279Q	possibly damaging	Het
Slc1a6	A	G	10: 78,636,008 (GRCm39)	I358V	probably benign	Het
Slc25a15	T	C	8: 22,885,726 (GRCm39)		probably benign	Het
Slc43a1	G	A	2: 84,684,897 (GRCm39)		probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spock3	T	G	8: 63,802,018 (GRCm39)		probably null	Het
Tbc1d7	T	C	13: 43,308,162 (GRCm39)		probably null	Het
Tmem184c	C	T	8: 78,326,286 (GRCm39)	W260*	probably null	Het
Trnau1ap	A	G	4: 132,039,252 (GRCm39)	Y265H	probably damaging	Het
Usp25	T	C	16: 76,871,754 (GRCm39)	F363S	probably damaging	Het
Vcl	T	C	14: 21,072,085 (GRCm39)	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,187,717 (GRCm39)	M292K	probably benign	Het
Xpc	G	T	6: 91,487,463 (GRCm39)	A89E	probably 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
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
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

Posted On

2016-08-02