Mutagenetix > Incidental Mutation

Incidental Mutation 'R3684:Cfap126'

473199

Institutional Source

Beutler Lab

Gene Symbol

Cfap126

Ensembl Gene

ENSMUSG00000026649

Gene Name

cilia and flagella associated protein 126

Synonyms

Flattop, 1700009P17Rik, Fltp

MMRRC Submission

040682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170941487-170954536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170941600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

Ref Sequence

ENSEMBL: ENSMUSP00000114967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129651] [ENSMUST00000151340]

AlphaFold

Q6P8X9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129651
AA Change: S32P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649
AA Change: S32P

Domain	Start	End	E-Value	Type
low complexity region	166	180	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151340

SMART Domains

Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649

Domain	Start	End	E-Value	Type
low complexity region	122	136	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	T	14: 68,819,447 (GRCm39)	V17I	probably benign	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Atr	T	C	9: 95,802,453 (GRCm39)	S1782P	probably damaging	Het
Btbd9	T	A	17: 30,553,281 (GRCm39)	N394Y	probably damaging	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Cep83	A	G	10: 94,622,687 (GRCm39)	T588A	probably benign	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Dok3	A	G	13: 55,672,306 (GRCm39)	S154P	probably damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Gls	A	T	1: 52,205,452 (GRCm39)	D447E	probably damaging	Het
Itih5	A	T	2: 10,243,435 (GRCm39)	N391Y	possibly damaging	Het
Jchain	G	A	5: 88,670,398 (GRCm39)	P74S	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrrn1	T	C	6: 107,544,910 (GRCm39)	V236A	probably benign	Het
Mcm3ap	T	C	10: 76,325,260 (GRCm39)	S954P	possibly damaging	Het
Myh11	T	C	16: 14,021,098 (GRCm39)	N1725S	probably benign	Het
Ppcdc	C	T	9: 57,328,408 (GRCm39)		probably null	Het
Rhobtb3	A	G	13: 76,087,600 (GRCm39)	I129T	probably damaging	Het
Sfxn2	A	G	19: 46,579,592 (GRCm39)	R252G	probably benign	Het
Sh2d2a	C	A	3: 87,759,027 (GRCm39)		probably null	Het
Sh3gl1	T	C	17: 56,325,953 (GRCm39)	K159E	possibly damaging	Het
Slc7a9	A	G	7: 35,152,926 (GRCm39)	T115A	probably benign	Het
Spmap1	A	T	11: 97,666,525 (GRCm39)	Y54N	probably damaging	Het
Synj2	A	T	17: 6,078,718 (GRCm39)	D1020V	probably damaging	Het
Tenm2	C	A	11: 35,942,644 (GRCm39)	V1342L	probably benign	Het
Tmem127	T	A	2: 127,090,652 (GRCm39)	I56N	possibly damaging	Het
Traj7	A	G	14: 54,448,938 (GRCm39)		probably benign	Het
Unc5d	A	G	8: 29,184,620 (GRCm39)	F627L	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Usp17la	A	T	7: 104,510,937 (GRCm39)	N514I	possibly damaging	Het
Uvrag	A	T	7: 98,637,427 (GRCm39)	C341S	probably damaging	Het
Zfp810	T	C	9: 22,189,531 (GRCm39)	D459G	probably benign	Het

Other mutations in Cfap126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Cfap126	APN	1	170,954,305 (GRCm39)	missense	possibly damaging	0.46
PIT4514001:Cfap126	UTSW	1	170,952,881 (GRCm39)	missense	probably damaging	1.00
R0014:Cfap126	UTSW	1	170,953,353 (GRCm39)	missense	possibly damaging	0.55
R0466:Cfap126	UTSW	1	170,953,769 (GRCm39)	missense	probably damaging	1.00
R1496:Cfap126	UTSW	1	170,953,386 (GRCm39)	utr 3 prime	probably benign
R2317:Cfap126	UTSW	1	170,953,700 (GRCm39)	missense	possibly damaging	0.82
R4601:Cfap126	UTSW	1	170,941,627 (GRCm39)	missense	possibly damaging	0.81
R5960:Cfap126	UTSW	1	170,952,882 (GRCm39)	missense	probably damaging	1.00
R6717:Cfap126	UTSW	1	170,941,671 (GRCm39)	splice site	probably null
R6999:Cfap126	UTSW	1	170,953,733 (GRCm39)	missense	possibly damaging	0.92
R8212:Cfap126	UTSW	1	170,953,630 (GRCm39)	missense	probably damaging	1.00
R8934:Cfap126	UTSW	1	170,953,690 (GRCm39)	missense	probably benign
X0065:Cfap126	UTSW	1	170,954,308 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

Posted On

2017-04-14