Mutagenetix > Incidental Mutation

Incidental Mutation 'R9080:Cfap100'

689956

Institutional Source

Beutler Lab

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: 0.050) question?

Stock #

R9080 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90383183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 330 (N330S)

Ref Sequence

ENSEMBL: ENSMUSP00000059976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000075117] [ENSMUST00000153843] [ENSMUST00000165673]

AlphaFold

Q80VN0

Predicted Effect

unknown
Transcript: ENSMUST00000062750
AA Change: N330S

SMART Domains

Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: N330S

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: ENSMUST00000075117

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430

Domain	Start	End	E-Value	Type
low complexity region	22	73	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	134	152	N/A	INTRINSIC
ZnF_C2H2	176	200	4.79e-3	SMART
ZnF_C2H2	209	233	4.3e-5	SMART
ZnF_C2H2	239	263	4.3e-5	SMART
ZnF_C2H2	269	291	1.69e-3	SMART
ZnF_C2H2	298	322	1.82e-3	SMART
ZnF_C2H2	329	353	1.26e-2	SMART
ZnF_C2H2	359	383	1.36e-2	SMART
ZnF_C2H2	389	413	5.21e-4	SMART
ZnF_C2H2	419	443	4.72e-2	SMART
ZnF_C2H2	452	477	3.07e-1	SMART
low complexity region	487	502	N/A	INTRINSIC
low complexity region	635	651	N/A	INTRINSIC
low complexity region	799	811	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153843

Predicted Effect

unknown
Transcript: ENSMUST00000165673
AA Change: N484S

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: N484S

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,973 (GRCm39)	I13T	unknown	Het
Adad1	G	T	3: 37,119,398 (GRCm39)	V160L	probably benign	Het
Adamts6	T	A	13: 104,449,427 (GRCm39)	M279K	probably damaging	Het
Adgra2	T	C	8: 27,604,529 (GRCm39)	S535P	probably benign	Het
Akr1c13	C	T	13: 4,241,172 (GRCm39)		probably benign	Het
Anapc1	A	G	2: 128,464,426 (GRCm39)	I1690T	possibly damaging	Het
Ccdc138	A	G	10: 58,397,884 (GRCm39)	M575V	probably damaging	Het
Col12a1	T	C	9: 79,517,133 (GRCm39)	D2849G	probably benign	Het
Cox11	G	A	11: 90,535,246 (GRCm39)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cspp1	G	A	1: 10,183,919 (GRCm39)	S848N	probably benign	Het
Cxcr5	A	G	9: 44,424,563 (GRCm39)	S365P	probably damaging	Het
Dclre1c	A	T	2: 3,458,589 (GRCm39)	M389L	probably benign	Het
Dlc1	T	C	8: 37,052,006 (GRCm39)	D124G	probably benign	Het
Dtx3	A	T	10: 127,027,137 (GRCm39)	S346T	possibly damaging	Het
Exosc10	A	G	4: 148,649,121 (GRCm39)	D337G	probably damaging	Het
Fpr1	G	A	17: 18,097,212 (GRCm39)	A259V	probably benign	Het
Gm11232	A	T	4: 71,676,070 (GRCm39)	M25K	probably benign	Het
Gm4950	A	G	18: 51,998,922 (GRCm39)	V11A	possibly damaging	Het
Gsap	C	T	5: 21,399,410 (GRCm39)	T37I	possibly damaging	Het
Igfbp2	T	A	1: 72,891,157 (GRCm39)	C252S	probably damaging	Het
Ing2	T	C	8: 48,121,808 (GRCm39)	T247A	possibly damaging	Het
Ints1	C	T	5: 139,739,300 (GRCm39)	V2028M	probably benign	Het
Itfg1	A	G	8: 86,466,874 (GRCm39)	F400L	possibly damaging	Het
Itga6	A	G	2: 71,673,633 (GRCm39)	Y889C	probably benign	Het
Kcnh3	A	G	15: 99,139,667 (GRCm39)	E882G	probably damaging	Het
Limch1	T	A	5: 67,174,992 (GRCm39)	C515S	probably benign	Het
Lrrc74a	G	T	12: 86,795,908 (GRCm39)	V294F	possibly damaging	Het
Megf8	A	G	7: 25,041,131 (GRCm39)	E1120G	probably damaging	Het
Nbea	A	T	3: 55,912,516 (GRCm39)	Y1090*	probably null	Het
Nckap1	A	G	2: 80,350,726 (GRCm39)	Y794H	probably damaging	Het
Nfib	T	C	4: 82,623,754 (GRCm39)	M25V		Het
Ogfod2	A	G	5: 124,253,007 (GRCm39)	E339G	probably damaging	Het
Olah	T	A	2: 3,349,389 (GRCm39)	E64V	probably damaging	Het
Or2a14	T	A	6: 43,130,830 (GRCm39)	V197D	possibly damaging	Het
Or9a4	T	A	6: 40,548,563 (GRCm39)	L81H	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,624 (GRCm39)	K120M	probably damaging	Het
Pex1	A	G	5: 3,655,476 (GRCm39)	I134V	probably damaging	Het
Plekhm2	T	C	4: 141,359,039 (GRCm39)	H576R	probably damaging	Het
Ptpn13	T	A	5: 103,637,494 (GRCm39)	H127Q	probably damaging	Het
Rmnd5b	C	T	11: 51,515,055 (GRCm39)		probably null	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,393,300 (GRCm39)	Q995K	probably benign	Het
Serpinb6d	T	A	13: 33,855,107 (GRCm39)	S260R	probably benign	Het
Slc47a1	C	T	11: 61,264,219 (GRCm39)	G67S	possibly damaging	Het
Slco6d1	T	C	1: 98,348,983 (GRCm39)	V18A	probably benign	Het
Tfcp2	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	15: 100,395,968 (GRCm39)		probably null	Het
Tiam2	T	G	17: 3,464,519 (GRCm39)	C83G	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tln2	C	T	9: 67,253,843 (GRCm39)	G743R	probably damaging	Het
Tnks	CCCGCCGCCGCCGCCGCCGCCG	CCCGCCGCCGCCGCCGCCG	8: 35,432,466 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,536,843 (GRCm39)	T34994I	probably benign	Het
Ube2q2l	T	A	6: 136,377,720 (GRCm39)	D370V	probably damaging	Het
Uggt2	T	A	14: 119,295,017 (GRCm39)	E536D	probably benign	Het
Usp54	T	C	14: 20,612,308 (GRCm39)	E836G	probably damaging	Het
Vmn1r41	C	T	6: 89,724,138 (GRCm39)	T63M	unknown	Het
Vmn2r72	A	C	7: 85,387,464 (GRCm39)	I700S	probably damaging	Het
Xrcc4	T	C	13: 90,149,097 (GRCm39)	N141S	probably damaging	Het
Zfp638	T	C	6: 83,844,155 (GRCm39)	V6A	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
R8835:Cfap100	UTSW	6	90,386,597 (GRCm39)	missense
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'- ACAGTGACTGACCTCATGCG -3'
(R):5'- TGAGCCAAGTCAGAAGCCTG -3'

Sequencing Primer
(F):5'- TGACCTCATGCGCCGCTC -3'
(R):5'- GCCTGACCATACCTGCTAAG -3'

Posted On

2021-11-19