Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:Cfap126'

201316

Institutional Source

Beutler Lab

Gene Symbol

Cfap126

Ensembl Gene

ENSMUSG00000026649

Gene Name

cilia and flagella associated protein 126

Synonyms

Flattop, 1700009P17Rik, Fltp

MMRRC Submission

038309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

170941487-170954536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170953353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

Ref Sequence

ENSEMBL: ENSMUSP00000115108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027959] [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000124157] [ENSMUST00000127394] [ENSMUST00000129651] [ENSMUST00000143623] [ENSMUST00000151340]

AlphaFold

Q6P8X9

Predicted Effect

probably benign
Transcript: ENSMUST00000027959

SMART Domains

Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081560

SMART Domains

Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076

Domain	Start	End	E-Value	Type
Pfam:Sdh_cyt	12	132	2.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111336

SMART Domains

Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076

Domain	Start	End	E-Value	Type
Pfam:Sdh_cyt	46	166	2.4e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124157
AA Change: D49G

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649
AA Change: D49G

Domain	Start	End	E-Value	Type
low complexity region	150	164	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127394

Predicted Effect

probably benign
Transcript: ENSMUST00000129651

SMART Domains

Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649

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: ENSMUST00000143623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148200

Predicted Effect

probably benign
Transcript: ENSMUST00000156789

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (68/68)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
C3ar1	C	T	6: 122,827,810 (GRCm39)	V136M	probably damaging	Het
Capg	A	G	6: 72,538,026 (GRCm39)	E304G	possibly damaging	Het
Ccdc125	A	C	13: 100,820,846 (GRCm39)	N189T	possibly damaging	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Cd2ap	T	C	17: 43,118,819 (GRCm39)	S540G	probably benign	Het
Cdt1	C	T	8: 123,299,305 (GRCm39)	T529M	probably benign	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Degs1l	T	C	1: 180,882,696 (GRCm39)	F153L	possibly damaging	Het
Dgkd	A	G	1: 87,809,603 (GRCm39)	D97G	probably damaging	Het
Dgkg	A	T	16: 22,384,114 (GRCm39)		probably null	Het
Dmbx1	G	T	4: 115,775,221 (GRCm39)	T358K	probably damaging	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
F2rl2	A	T	13: 95,837,417 (GRCm39)	N154I	probably damaging	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Hmox2	T	A	16: 4,582,897 (GRCm39)	L210Q	probably damaging	Het
Klhl28	T	C	12: 65,004,076 (GRCm39)	T146A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Man2c1	T	A	9: 57,046,985 (GRCm39)	M580K	probably benign	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nyap2	T	C	1: 81,219,666 (GRCm39)	S563P	probably damaging	Het
Or2at4	T	C	7: 99,385,256 (GRCm39)	V302A	probably damaging	Het
Or4k51	A	G	2: 111,585,119 (GRCm39)	D175G	probably damaging	Het
Or55b3	A	G	7: 102,126,684 (GRCm39)	I131T	probably damaging	Het
P2rx5	T	A	11: 73,057,888 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Ptpdc1	G	T	13: 48,740,395 (GRCm39)	Y345*	probably null	Het
Rcbtb1	G	T	14: 59,472,691 (GRCm39)	K493N	probably benign	Het
Rexo2	A	T	9: 48,385,747 (GRCm39)	S126T	probably benign	Het
Rorc	T	A	3: 94,284,920 (GRCm39)		probably benign	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Syde1	T	C	10: 78,425,868 (GRCm39)	T100A	probably benign	Het
Tbc1d20	A	T	2: 152,153,701 (GRCm39)	Q342L	probably benign	Het
Thbs1	A	G	2: 117,943,831 (GRCm39)	T150A	possibly damaging	Het
Trpm1	A	G	7: 63,897,970 (GRCm39)	H317R	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Wdfy4	A	G	14: 32,829,130 (GRCm39)	F1029L	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het
Zscan18	A	T	7: 12,503,344 (GRCm39)	F738L	possibly damaging	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
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
R3684:Cfap126	UTSW	1	170,941,600 (GRCm39)	missense	possibly damaging	0.83
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

PCR Primer
(F):5'- TCGCTGCCCATGAAGGTTACACTC -3'
(R):5'- ACGGCCACTCTTGTCTTGCCAATG -3'

Sequencing Primer
(F):5'- aaggagagagagagagagagag -3'
(R):5'- GTCTTGCCAATGCTTAGTAAGGAAAC -3'

Posted On

2014-06-02