Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03206:Ift140'

413155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift140

Ensembl Gene

ENSMUSG00000024169

Gene Name

intraflagellar transport 140

Synonyms

Tce5, Wdtc2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03206

Quality Score

Status

Chromosome

Chromosomal Location

25235056-25318461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25311800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1241 (V1241A)

Ref Sequence

ENSEMBL: ENSMUSP00000024983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386]

AlphaFold

E9PY46

Predicted Effect

probably damaging
Transcript: ENSMUST00000024983
AA Change: V1241A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: V1241A

Domain	Start	End	E-Value	Type
WD40	55	89	6.14e1	SMART
WD40	91	131	1.49e0	SMART
Blast:WD40	252	304	3e-15	BLAST
WD40	308	352	2.76e0	SMART
Blast:WD40	364	405	8e-17	BLAST
Blast:WD40	510	547	6e-13	BLAST
Blast:WD40	560	603	3e-7	BLAST
Blast:TPR	863	896	9e-13	BLAST
Blast:TPR	1011	1044	1e-13	BLAST
Blast:TPR	1377	1410	8e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000137386

SMART Domains

Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169

Domain	Start	End	E-Value	Type
WD40	55	89	6.14e1	SMART
WD40	91	131	1.49e0	SMART
Blast:WD40	252	304	3e-15	BLAST
WD40	308	352	2.76e0	SMART
Blast:WD40	364	405	1e-16	BLAST
Blast:WD40	510	547	5e-13	BLAST
Blast:WD40	560	603	3e-7	BLAST
Blast:TPR	863	896	8e-13	BLAST
Blast:TPR	1011	1044	9e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a reporter knock-out allele die at mid-gestation. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,530,239 (GRCm39)	E939D	possibly damaging	Het
Aloxe3	C	A	11: 69,020,472 (GRCm39)	A172D	possibly damaging	Het
Bscl2	G	A	19: 8,820,453 (GRCm39)	R158Q	probably damaging	Het
Cdon	A	G	9: 35,414,602 (GRCm39)	D1159G	probably benign	Het
Cep164	A	G	9: 45,714,023 (GRCm39)	V203A	probably benign	Het
Chml	T	C	1: 175,515,303 (GRCm39)	D206G	probably benign	Het
E2f6	T	C	12: 16,872,090 (GRCm39)		probably benign	Het
Emilin3	T	A	2: 160,752,719 (GRCm39)	Y77F	probably damaging	Het
Fbxw15	A	T	9: 109,394,430 (GRCm39)	N128K	possibly damaging	Het
Gjd2	A	G	2: 113,842,204 (GRCm39)	L91P	probably damaging	Het
Gm12830	T	A	4: 114,702,314 (GRCm39)		probably benign	Het
Gpr161	T	A	1: 165,149,218 (GRCm39)	L529Q	probably damaging	Het
Hoxd10	T	A	2: 74,522,776 (GRCm39)	Y151*	probably null	Het
Iars1	A	G	13: 49,846,546 (GRCm39)	D215G	possibly damaging	Het
Kdm5b	A	G	1: 134,555,055 (GRCm39)	N1321S	probably benign	Het
Lrat	T	A	3: 82,810,656 (GRCm39)	I122F	probably damaging	Het
Myl10	C	T	5: 136,726,796 (GRCm39)	Q106*	probably null	Het
Ncapd2	A	T	6: 125,148,660 (GRCm39)	Y1018N	possibly damaging	Het
Ndrg1	C	T	15: 66,814,936 (GRCm39)	W172*	probably null	Het
Nphs2	T	C	1: 156,153,701 (GRCm39)	M264T	probably damaging	Het
Nrxn3	A	T	12: 89,227,278 (GRCm39)	R677S	possibly damaging	Het
Nudt12	T	C	17: 59,314,667 (GRCm39)	T306A	probably benign	Het
Numb	A	G	12: 83,872,070 (GRCm39)		probably benign	Het
Or10h28	T	A	17: 33,487,725 (GRCm39)	I9K	possibly damaging	Het
Or2y1	A	T	11: 49,385,536 (GRCm39)	M59L	probably benign	Het
Or5p58	C	T	7: 107,694,261 (GRCm39)	C172Y	probably damaging	Het
Pbld2	T	A	10: 62,883,261 (GRCm39)	D94E	probably benign	Het
Pkd1l3	C	A	8: 110,350,345 (GRCm39)	Q397K	probably benign	Het
Ppp4r3a	A	T	12: 101,024,878 (GRCm39)	L207H	probably damaging	Het
Ranbp2	T	A	10: 58,301,369 (GRCm39)	I674N	probably damaging	Het
Retnlg	G	T	16: 48,694,655 (GRCm39)	C101F	probably damaging	Het
Rif1	T	A	2: 51,993,634 (GRCm39)	I849N	probably damaging	Het
Serpinb9d	T	C	13: 33,382,014 (GRCm39)	I161T	possibly damaging	Het
Slc17a6	T	C	7: 51,315,771 (GRCm39)		probably benign	Het
Smg8	A	C	11: 86,976,814 (GRCm39)		probably null	Het
Spata31d1c	C	A	13: 65,183,407 (GRCm39)	N316K	probably benign	Het
Tlr1	A	G	5: 65,082,400 (GRCm39)	S726P	probably damaging	Het
Trim69	A	C	2: 122,003,636 (GRCm39)	D195A	probably benign	Het
Ttc16	T	G	2: 32,661,897 (GRCm39)		probably null	Het
Usp53	T	A	3: 122,746,832 (GRCm39)	M405L	probably benign	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp335	G	T	2: 164,734,601 (GRCm39)		probably benign	Het
Zfp607a	T	C	7: 27,577,248 (GRCm39)	I106T	possibly damaging	Het
Zfp959	T	C	17: 56,204,613 (GRCm39)	S214P	possibly damaging	Het
Zfyve9	T	C	4: 108,546,406 (GRCm39)	M868V	possibly damaging	Het

Other mutations in Ift140

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Ift140	APN	17	25,274,618 (GRCm39)	missense	probably damaging	1.00
IGL00966:Ift140	APN	17	25,237,776 (GRCm39)	missense	probably damaging	1.00
IGL01082:Ift140	APN	17	25,267,429 (GRCm39)	missense	possibly damaging	0.89
IGL01394:Ift140	APN	17	25,313,676 (GRCm39)	missense	probably benign	0.02
IGL01816:Ift140	APN	17	25,305,999 (GRCm39)	splice site	probably null
IGL01994:Ift140	APN	17	25,267,417 (GRCm39)	missense	probably damaging	1.00
IGL02102:Ift140	APN	17	25,252,104 (GRCm39)	missense	probably benign	0.03
IGL02207:Ift140	APN	17	25,274,572 (GRCm39)	missense	probably benign
IGL02493:Ift140	APN	17	25,306,898 (GRCm39)	nonsense	probably null
IGL02735:Ift140	APN	17	25,253,009 (GRCm39)	splice site	probably benign
IGL02902:Ift140	APN	17	25,309,736 (GRCm39)	missense	probably damaging	1.00
IGL03037:Ift140	APN	17	25,311,368 (GRCm39)	missense	probably benign	0.02
IGL03122:Ift140	APN	17	25,305,884 (GRCm39)	missense	probably damaging	1.00
IGL03271:Ift140	APN	17	25,306,880 (GRCm39)	missense	probably damaging	1.00
IGL03358:Ift140	APN	17	25,306,958 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Ift140	UTSW	17	25,305,834 (GRCm39)	missense	probably damaging	0.98
R0100:Ift140	UTSW	17	25,309,928 (GRCm39)	nonsense	probably null
R0100:Ift140	UTSW	17	25,309,928 (GRCm39)	nonsense	probably null
R0197:Ift140	UTSW	17	25,309,907 (GRCm39)	missense	probably benign	0.09
R0238:Ift140	UTSW	17	25,264,497 (GRCm39)	nonsense	probably null
R0238:Ift140	UTSW	17	25,264,497 (GRCm39)	nonsense	probably null
R0239:Ift140	UTSW	17	25,264,497 (GRCm39)	nonsense	probably null
R0239:Ift140	UTSW	17	25,264,497 (GRCm39)	nonsense	probably null
R0355:Ift140	UTSW	17	25,267,409 (GRCm39)	nonsense	probably null
R0399:Ift140	UTSW	17	25,269,314 (GRCm39)	missense	possibly damaging	0.77
R0574:Ift140	UTSW	17	25,270,734 (GRCm39)	splice site	probably null
R0610:Ift140	UTSW	17	25,254,777 (GRCm39)	missense	probably benign	0.06
R0701:Ift140	UTSW	17	25,309,907 (GRCm39)	missense	probably benign	0.09
R0883:Ift140	UTSW	17	25,309,907 (GRCm39)	missense	probably benign	0.09
R0900:Ift140	UTSW	17	25,254,786 (GRCm39)	missense	probably benign	0.22
R1167:Ift140	UTSW	17	25,254,719 (GRCm39)	missense	probably benign	0.01
R1295:Ift140	UTSW	17	25,307,907 (GRCm39)	critical splice donor site	probably null
R1588:Ift140	UTSW	17	25,306,959 (GRCm39)	missense	probably damaging	1.00
R1619:Ift140	UTSW	17	25,307,839 (GRCm39)	missense	probably damaging	1.00
R1637:Ift140	UTSW	17	25,244,608 (GRCm39)	missense	probably benign	0.40
R1854:Ift140	UTSW	17	25,254,813 (GRCm39)	missense	probably benign	0.05
R2397:Ift140	UTSW	17	25,239,710 (GRCm39)	missense	probably damaging	1.00
R2510:Ift140	UTSW	17	25,255,282 (GRCm39)	missense	probably benign	0.02
R2918:Ift140	UTSW	17	25,254,805 (GRCm39)	missense	possibly damaging	0.66
R3433:Ift140	UTSW	17	25,255,282 (GRCm39)	missense	probably benign	0.02
R3878:Ift140	UTSW	17	25,247,918 (GRCm39)	missense	probably benign	0.25
R4559:Ift140	UTSW	17	25,309,741 (GRCm39)	missense	probably damaging	0.97
R4670:Ift140	UTSW	17	25,317,935 (GRCm39)	unclassified	probably benign
R4711:Ift140	UTSW	17	25,313,691 (GRCm39)	splice site	probably null
R4934:Ift140	UTSW	17	25,267,462 (GRCm39)	missense	probably benign
R4949:Ift140	UTSW	17	25,313,639 (GRCm39)	missense	probably benign	0.06
R4982:Ift140	UTSW	17	25,255,968 (GRCm39)	missense	probably damaging	0.99
R5099:Ift140	UTSW	17	25,309,674 (GRCm39)	missense	probably damaging	1.00
R5223:Ift140	UTSW	17	25,254,786 (GRCm39)	missense	probably benign	0.22
R5268:Ift140	UTSW	17	25,239,601 (GRCm39)	missense	possibly damaging	0.48
R5423:Ift140	UTSW	17	25,252,059 (GRCm39)	missense	probably damaging	0.96
R5480:Ift140	UTSW	17	25,239,550 (GRCm39)	missense	probably damaging	1.00
R5655:Ift140	UTSW	17	25,264,038 (GRCm39)	missense	probably damaging	1.00
R5756:Ift140	UTSW	17	25,247,787 (GRCm39)	missense	possibly damaging	0.62
R5837:Ift140	UTSW	17	25,308,514 (GRCm39)	missense	probably damaging	1.00
R5894:Ift140	UTSW	17	25,252,893 (GRCm39)	missense	possibly damaging	0.92
R5907:Ift140	UTSW	17	25,311,345 (GRCm39)	missense	probably benign	0.02
R5966:Ift140	UTSW	17	25,313,735 (GRCm39)	nonsense	probably null
R6000:Ift140	UTSW	17	25,255,934 (GRCm39)	missense	probably benign	0.00
R6046:Ift140	UTSW	17	25,274,563 (GRCm39)	missense	probably benign	0.00
R6050:Ift140	UTSW	17	25,309,979 (GRCm39)	missense	probably damaging	1.00
R6103:Ift140	UTSW	17	25,312,100 (GRCm39)	missense	probably damaging	1.00
R6239:Ift140	UTSW	17	25,247,946 (GRCm39)	missense	probably benign	0.26
R6287:Ift140	UTSW	17	25,269,408 (GRCm39)	missense	probably benign
R6539:Ift140	UTSW	17	25,313,643 (GRCm39)	missense	possibly damaging	0.87
R6656:Ift140	UTSW	17	25,251,147 (GRCm39)	missense	probably damaging	0.96
R6723:Ift140	UTSW	17	25,252,090 (GRCm39)	missense	probably benign	0.08
R6749:Ift140	UTSW	17	25,317,890 (GRCm39)	missense	probably damaging	0.99
R6892:Ift140	UTSW	17	25,239,520 (GRCm39)	missense	possibly damaging	0.95
R7151:Ift140	UTSW	17	25,274,699 (GRCm39)	missense	probably damaging	1.00
R7235:Ift140	UTSW	17	25,239,619 (GRCm39)	missense	possibly damaging	0.88
R7424:Ift140	UTSW	17	25,256,010 (GRCm39)	missense	possibly damaging	0.81
R7552:Ift140	UTSW	17	25,252,089 (GRCm39)	missense	probably benign	0.02
R7560:Ift140	UTSW	17	25,311,315 (GRCm39)	missense	probably benign	0.28
R7660:Ift140	UTSW	17	25,270,798 (GRCm39)	missense	probably damaging	1.00
R8105:Ift140	UTSW	17	25,255,949 (GRCm39)	missense	probably benign	0.01
R8415:Ift140	UTSW	17	25,311,889 (GRCm39)	missense	probably damaging	0.99
R8437:Ift140	UTSW	17	25,313,651 (GRCm39)	missense	probably damaging	0.99
R8747:Ift140	UTSW	17	25,254,809 (GRCm39)	missense	probably benign
R8932:Ift140	UTSW	17	25,305,862 (GRCm39)	missense	probably benign	0.03
R9226:Ift140	UTSW	17	25,317,839 (GRCm39)	missense	probably benign	0.00
R9347:Ift140	UTSW	17	25,313,753 (GRCm39)	missense	probably benign	0.00
R9451:Ift140	UTSW	17	25,252,925 (GRCm39)	missense	probably benign	0.33
R9456:Ift140	UTSW	17	25,254,758 (GRCm39)	missense	probably benign	0.03
R9782:Ift140	UTSW	17	25,264,151 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02