Mutagenetix > Incidental Mutation

Incidental Mutation 'R8835:Cfap100'

674083

Institutional Source

Beutler Lab

Gene Symbol

Cfap100

Ensembl Gene

ENSMUSG00000048794

Gene Name

cilia and flagella associated protein 100

Synonyms

Ccdc37, C230069K22Rik, C030041G11Rik

MMRRC Submission

068663-MU

Accession Numbers

Essential gene?

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

Stock #

R8835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90386597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 222 (D222V)

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: D222V

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: D376V

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: 98.9%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,896,433 (GRCm39)	G555A	probably benign	Het
Afmid	A	G	11: 117,718,914 (GRCm39)	K15E	probably benign	Het
Ankfn1	T	C	11: 89,429,379 (GRCm39)	I2V	probably benign	Het
Arhgap21	A	T	2: 20,972,144 (GRCm39)	C26*	probably null	Het
Arhgef38	A	T	3: 132,837,832 (GRCm39)	D699E	unknown	Het
Atxn2	T	C	5: 121,940,248 (GRCm39)	S1008P	possibly damaging	Het
C1rb	A	G	6: 124,552,217 (GRCm39)	K312E	probably benign	Het
Cc2d1b	G	A	4: 108,484,264 (GRCm39)	R424Q	probably damaging	Het
Ccdc27	G	A	4: 154,127,023 (GRCm39)	T13I	unknown	Het
Cdc42bpa	G	T	1: 179,896,916 (GRCm39)	V400F	probably damaging	Het
Cemip	C	A	7: 83,586,651 (GRCm39)	G1301V	probably damaging	Het
Cep170	A	G	1: 176,584,429 (GRCm39)	L650P	probably benign	Het
Cog8	A	T	8: 107,773,920 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,447,313 (GRCm39)	L1279P	unknown	Het
Cyyr1	A	T	16: 85,254,553 (GRCm39)	Y116*	probably null	Het
Dlgap4	A	T	2: 156,587,946 (GRCm39)	S597C	probably damaging	Het
Dpysl5	T	A	5: 30,936,282 (GRCm39)		probably null	Het
Dtl	G	T	1: 191,293,609 (GRCm39)	H189Q	probably damaging	Het
Epha1	A	T	6: 42,342,723 (GRCm39)	N275K	probably benign	Het
Fbxo11	A	G	17: 88,321,874 (GRCm39)	C110R		Het
Fhod1	A	G	8: 106,065,484 (GRCm39)		probably null	Het
Fndc1	A	C	17: 7,958,111 (GRCm39)	F1712C	probably damaging	Het
Gcnt7	G	A	2: 172,295,957 (GRCm39)	T289M	probably damaging	Het
Gm11020	A	T	8: 105,048,293 (GRCm39)	E32V	probably null	Het
Hoxb1	C	T	11: 96,256,627 (GRCm39)		probably benign	Het
Ibtk	G	A	9: 85,619,563 (GRCm39)	L126F	possibly damaging	Het
Il17rb	T	G	14: 29,722,308 (GRCm39)	E241A	possibly damaging	Het
Kdm3b	G	A	18: 34,941,802 (GRCm39)	R631Q	probably damaging	Het
Lnpep	A	T	17: 17,750,118 (GRCm39)	S991T	possibly damaging	Het
Mctp2	T	G	7: 71,852,161 (GRCm39)	E455A	probably benign	Het
Mgat4a	A	T	1: 37,491,372 (GRCm39)	I421N	possibly damaging	Het
Myof	C	A	19: 37,955,547 (GRCm39)	V526L	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nav2	G	A	7: 49,248,551 (GRCm39)	G2297D	possibly damaging	Het
Nipa2	A	T	7: 55,583,307 (GRCm39)		probably benign	Het
Nkx6-1	G	T	5: 101,811,971 (GRCm39)	P44T	unknown	Het
Nploc4	T	C	11: 120,309,122 (GRCm39)	K160R	possibly damaging	Het
Olfm3	C	A	3: 114,916,061 (GRCm39)	A331D	probably damaging	Het
Or10g6	A	C	9: 39,934,171 (GRCm39)	S161R	possibly damaging	Het
Or1e33	T	A	11: 73,738,702 (GRCm39)	H83L	probably benign	Het
Or52s1	T	A	7: 102,861,928 (GRCm39)	I287K	probably damaging	Het
Otof	T	C	5: 30,528,264 (GRCm39)	N1898S	probably benign	Het
Pde1a	G	A	2: 79,708,522 (GRCm39)	L299F	probably damaging	Het
Pole	T	C	5: 110,454,775 (GRCm39)	Y1003H	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prom1	T	G	5: 44,175,722 (GRCm39)	Y533S	probably damaging	Het
Prrt4	C	A	6: 29,169,986 (GRCm39)	C822F	probably damaging	Het
Prss12	A	C	3: 123,285,201 (GRCm39)	D542A	possibly damaging	Het
Ptrh2	T	C	11: 86,580,412 (GRCm39)	Y10H	probably damaging	Het
Pum1	C	T	4: 130,471,064 (GRCm39)	T439M	probably damaging	Het
Rarb	A	T	14: 16,575,011 (GRCm38)	F2I	probably benign	Het
Rpp21	G	A	17: 36,566,678 (GRCm39)	S127L	probably benign	Het
Scgb1b19	T	G	7: 32,986,948 (GRCm39)	V33G	probably damaging	Het
Smc1b	A	T	15: 85,013,949 (GRCm39)	V74D	possibly damaging	Het
Spint3	T	A	2: 164,411,923 (GRCm39)	K29*	probably null	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tacc2	T	A	7: 130,228,258 (GRCm39)	W1648R	probably benign	Het
Tbc1d21	C	G	9: 58,273,991 (GRCm39)	V62L	probably damaging	Het
Tectb	A	G	19: 55,172,270 (GRCm39)	N130S	probably benign	Het
Tln2	A	T	9: 67,304,975 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tpd52l1	G	T	10: 31,255,314 (GRCm39)	T11K	probably benign	Het
Ttll10	G	T	4: 156,133,055 (GRCm39)	P10T	probably benign	Het
Vmn1r215	A	G	13: 23,260,409 (GRCm39)	I150V	possibly damaging	Het
Zdhhc11	T	A	13: 74,127,411 (GRCm39)	Y263N	probably damaging	Het
Zfp354a	C	T	11: 50,960,628 (GRCm39)	R279*	probably null	Het
Zfp715	A	G	7: 42,948,430 (GRCm39)	I510T		Het
Zfp735	A	T	11: 73,601,692 (GRCm39)	H212L	possibly damaging	Het
Zfpm1	A	G	8: 123,063,772 (GRCm39)	T944A	unknown	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
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'- AAGACGTCTAAGAGCTGCTGG -3'
(R):5'- CTCTAATTGGAGACTGCTCACTG -3'

Sequencing Primer
(F):5'- GGGCTCAGTGAAGTATAGTGCC -3'
(R):5'- GGAGACTGCTCACTGAATTTTGAATG -3'

Posted On

2021-07-15