Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Cfap126'

680494

Institutional Source

Beutler Lab

Gene Symbol

Cfap126

Ensembl Gene

ENSMUSG00000026649

Gene Name

cilia and flagella associated protein 126

Synonyms

Flattop, 1700009P17Rik, Fltp

MMRRC Submission

068777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170941487-170954536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170953690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 87 (T87A)

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

probably benign
Transcript: ENSMUST00000027959
AA Change: T87A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649
AA Change: T87A

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: T115A

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: T131A

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

probably benign
Transcript: ENSMUST00000151340
AA Change: T87A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649
AA Change: T87A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abce1	A	G	8: 80,429,661 (GRCm39)	Y87H	probably damaging	Het
Adad2	G	A	8: 120,341,535 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,300,015 (GRCm39)	T901A	probably damaging	Het
Adamts18	T	A	8: 114,463,510 (GRCm39)	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,976,944 (GRCm39)	T1457A	probably benign	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
C4b	G	A	17: 34,951,958 (GRCm39)	R1296C	possibly damaging	Het
C5ar1	A	T	7: 15,982,402 (GRCm39)	L206Q	probably damaging	Het
Cnot1	A	T	8: 96,491,695 (GRCm39)	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,731,786 (GRCm39)	I120K	possibly damaging	Het
Ddx17	T	C	15: 79,420,217 (GRCm39)	E384G	possibly damaging	Het
Dipk1b	G	A	2: 26,524,866 (GRCm39)	V89M	possibly damaging	Het
Dnah14	T	C	1: 181,450,288 (GRCm39)	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,718,639 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,913,738 (GRCm39)	R185H	probably damaging	Het
Epdr1	T	C	13: 19,777,350 (GRCm39)	E216G	possibly damaging	Het
Erv3	T	C	2: 131,698,101 (GRCm39)	H86R	probably benign	Het
Gm5114	A	G	7: 39,060,553 (GRCm39)	W99R	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hjv	T	G	3: 96,433,909 (GRCm39)	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,469,469 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,150,407 (GRCm39)	*758W	probably null	Het
Il1rap	T	C	16: 26,495,734 (GRCm39)	C114R	probably damaging	Het
Irf6	T	C	1: 192,845,033 (GRCm39)	I168T	probably benign	Het
Kmt2d	T	C	15: 98,759,767 (GRCm39)	I1164V	unknown	Het
Lamb3	T	C	1: 193,021,168 (GRCm39)	L915P	probably damaging	Het
Lca5	T	C	9: 83,273,909 (GRCm39)		probably benign	Het
Lhx3	C	A	2: 26,092,258 (GRCm39)	R211L	probably damaging	Het
Mettl8	T	C	2: 70,882,062 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,334,386 (GRCm39)	S1297P	probably benign	Het
Myh14	T	A	7: 44,306,852 (GRCm39)	T232S	probably benign	Het
Nemp2	T	A	1: 52,688,868 (GRCm39)	F377L	probably damaging	Het
Obscn	A	G	11: 58,889,085 (GRCm39)		probably null	Het
Or4b1b	T	A	2: 90,112,356 (GRCm39)	T188S	probably benign	Het
Or51ah3	T	C	7: 103,210,290 (GRCm39)	V202A	probably benign	Het
Pgbd5	A	C	8: 125,110,998 (GRCm39)	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,606,666 (GRCm39)	L240P	probably benign	Het
Pkhd1	A	G	1: 20,462,234 (GRCm39)		probably null	Het
Ppp2r5a	T	A	1: 191,100,835 (GRCm39)		probably benign	Het
Pramel31	C	T	4: 144,090,345 (GRCm39)	L462F	possibly damaging	Het
Prss30	C	T	17: 24,192,628 (GRCm39)	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,546,297 (GRCm39)	V318M	probably damaging	Het
Rpap1	C	T	2: 119,599,730 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,303,219 (GRCm39)	Q184R	probably benign	Het
Rufy1	T	A	11: 50,298,705 (GRCm39)	Q362L	probably benign	Het
Rundc1	A	G	11: 101,322,327 (GRCm39)	K274E	probably damaging	Het
Shroom3	T	A	5: 93,089,584 (GRCm39)	I778K	probably damaging	Het
Slamf6	C	T	1: 171,745,338 (GRCm39)	L22F	possibly damaging	Het
St7l	A	G	3: 104,796,634 (GRCm39)	E249G	probably damaging	Het
Tmem237	T	C	1: 59,153,338 (GRCm39)	N61S	probably benign	Het
Tyk2	T	C	9: 21,038,416 (GRCm39)		probably benign	Het
Ubtf	G	T	11: 102,204,855 (GRCm39)	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,211,188 (GRCm39)	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,194,714 (GRCm39)	C502S	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
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
X0065:Cfap126	UTSW	1	170,954,308 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACTTGGTAAGCCACTGCCTTAG -3'
(R):5'- TGGCTAGAACAGTGATTGGC -3'

Sequencing Primer
(F):5'- TCCTTACTAAGCATTGGCAAGAC -3'
(R):5'- ACAGTGATTGGCAGAACAGTTTTG -3'

Posted On

2021-08-31