Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Cfap100'

526714

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: 0.048) question?

Stock #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90380461-90405779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90390400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 80 (E80A)

Ref Sequence

ENSEMBL: ENSMUSP00000059976 (fasta)

Gene Model

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

AlphaFold

Q80VN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000062750
AA Change: E80A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: E80A

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 damaging
Transcript: ENSMUST00000165673
AA Change: E234A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: E234A

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

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gimap4	T	C	6: 48,668,338 (GRCm39)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,147,058 (GRCm39)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Iqgap2	A	T	13: 95,796,840 (GRCm39)	Y1105N	probably damaging	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nme5	A	C	18: 34,711,639 (GRCm39)	I34S	probably damaging	Het
Nrip2	T	C	6: 128,385,199 (GRCm39)	L210P	possibly damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	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
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'- AAAGTCACTAAGTGTCCGTTGC -3'
(R):5'- CTGGAACCATGAACCCTAGC -3'

Sequencing Primer
(F):5'- ACTAAGTGTCCGTTGCAGCAC -3'
(R):5'- AGGCCCTGATCTCAACCTATGG -3'

Posted On

2018-07-23