Mutagenetix > Incidental Mutation

Incidental Mutation 'R6999:Cfap126'

544377

Institutional Source

Beutler Lab

Gene Symbol

Cfap126

Ensembl Gene

ENSMUSG00000026649

Gene Name

cilia and flagella associated protein 126

Synonyms

Flattop, 1700009P17Rik, Fltp

MMRRC Submission

045104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170941487-170954536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170953733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 101 (D101G)

Ref Sequence

ENSEMBL: ENSMUSP00000123188 (fasta)

Gene Model

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

AlphaFold

Q6P8X9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027959
AA Change: D101G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649
AA Change: D101G

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

SMART Domains

Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649
AA Change: D129G

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

SMART Domains

Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649
AA Change: D145G

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

possibly damaging
Transcript: ENSMUST00000151340
AA Change: D101G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649
AA Change: D101G

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: ENSMUST00000156789

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,356,321 (GRCm39)	Q629*	probably null	Het
Acss3	C	A	10: 106,889,362 (GRCm39)	G153C	probably damaging	Het
Alpk2	A	G	18: 65,437,584 (GRCm39)	S1270P	probably damaging	Het
Ankrd10	A	T	8: 11,669,106 (GRCm39)	L215Q	probably damaging	Het
Ankrd6	A	G	4: 32,823,459 (GRCm39)	S188P	probably benign	Het
Brinp2	A	G	1: 158,078,875 (GRCm39)	M316T	probably benign	Het
Bsn	A	G	9: 107,990,632 (GRCm39)	S1707P	probably benign	Het
C2cd4b	C	T	9: 67,667,571 (GRCm39)	A189V	probably benign	Het
Camk2b	C	T	11: 5,922,321 (GRCm39)	R556H	probably damaging	Het
Chd5	A	T	4: 152,458,891 (GRCm39)	I1085F	probably damaging	Het
Chp2	A	G	7: 121,821,092 (GRCm39)	E151G	probably damaging	Het
Chrd	A	G	16: 20,554,402 (GRCm39)	T370A	probably benign	Het
Chrnb2	C	T	3: 89,668,622 (GRCm39)	R231H	possibly damaging	Het
Crisp4	T	A	1: 18,207,259 (GRCm39)	I10F	possibly damaging	Het
Csnka2ip	T	A	16: 64,298,933 (GRCm39)	H477L	unknown	Het
Ctu1	T	A	7: 43,324,662 (GRCm39)	F34I	probably damaging	Het
Dctn1	T	A	6: 83,168,263 (GRCm39)	S407T	possibly damaging	Het
Ech1	T	C	7: 28,529,689 (GRCm39)	F191L	probably benign	Het
Enpp3	T	C	10: 24,684,064 (GRCm39)	D60G	probably damaging	Het
Epha6	T	C	16: 60,245,533 (GRCm39)	Y222C	possibly damaging	Het
Eppk1	A	T	15: 75,993,423 (GRCm39)	W1153R	probably benign	Het
Fbxo4	C	T	15: 4,007,437 (GRCm39)	D76N	probably damaging	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Gemin5	C	T	11: 58,015,947 (GRCm39)	R1352Q	probably benign	Het
Gm9639	T	C	10: 77,630,525 (GRCm39)		probably benign	Het
Gm973	C	A	1: 59,673,251 (GRCm39)	Q160K	unknown	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid2	A	T	6: 64,053,893 (GRCm39)	Q364L	possibly damaging	Het
Kcnn2	T	G	18: 45,725,444 (GRCm39)	S313R	probably damaging	Het
Kera	T	C	10: 97,444,814 (GRCm39)	Y58H	probably damaging	Het
Meiosin	A	G	7: 18,836,300 (GRCm39)		probably benign	Het
Mtfr2	T	C	10: 20,229,862 (GRCm39)	L105P	probably benign	Het
Myom2	A	G	8: 15,134,531 (GRCm39)	T445A	probably benign	Het
Or2o1	A	G	11: 49,051,239 (GRCm39)	R133G	possibly damaging	Het
Or8b1c	T	A	9: 38,384,535 (GRCm39)	L164Q	probably damaging	Het
Pcdha12	T	C	18: 37,153,329 (GRCm39)	L16P	probably benign	Het
Pcdhb10	T	C	18: 37,546,171 (GRCm39)	Y416H	probably damaging	Het
Pde8b	T	C	13: 95,223,342 (GRCm39)	Y304C	possibly damaging	Het
Pkd1	T	C	17: 24,797,475 (GRCm39)	I2605T	possibly damaging	Het
Pnn	T	C	12: 59,117,085 (GRCm39)		probably null	Het
Ppa1	G	A	10: 61,496,796 (GRCm39)	G95S	probably damaging	Het
Rapgef4	G	T	2: 72,069,469 (GRCm39)	A730S	probably damaging	Het
Scap	A	G	9: 110,213,715 (GRCm39)	Y1226C	probably damaging	Het
Scn2a	A	T	2: 65,512,453 (GRCm39)	T197S	probably benign	Het
Slc2a6	GCTTCC	GC	2: 26,916,047 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,529 (GRCm39)	Y430C	probably benign	Het
Tead3	T	C	17: 28,560,506 (GRCm39)	T33A	probably benign	Het
Tep1	T	A	14: 51,088,162 (GRCm39)	I792F	possibly damaging	Het
Trpm2	A	T	10: 77,771,725 (GRCm39)	I638N	probably damaging	Het
Tuba1c	A	G	15: 98,935,193 (GRCm39)	D218G	probably benign	Het
Tubgcp4	T	A	2: 121,022,778 (GRCm39)	W495R	probably damaging	Het
Tut1	T	C	19: 8,943,382 (GRCm39)	L823P	probably damaging	Het
Ube2q2l	T	C	6: 136,378,272 (GRCm39)	N186S	probably benign	Het
Umodl1	C	T	17: 31,218,097 (GRCm39)	A1228V	probably damaging	Het
Vmn1r235	T	A	17: 21,482,127 (GRCm39)	F151I	probably benign	Het
Vmn2r45	T	A	7: 8,486,219 (GRCm39)	K356N	probably benign	Het
Zfp318	T	A	17: 46,710,969 (GRCm39)	N897K	probably 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
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
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
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'- TTGGCAAGACAAGAGTGGCC -3'
(R):5'- GACCTTAGTGATGAGGGACTGG -3'

Sequencing Primer
(F):5'- TGAAGCCAGACAGCCCTG -3'
(R):5'- CTGGGCAGCATGAGACAGATTTG -3'

Posted On

2019-05-13