Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Ift140'

59178

Institutional Source

Beutler Lab

Gene Symbol

Ift140

Ensembl Gene

ENSMUSG00000024169

Gene Name

intraflagellar transport 140

Synonyms

Tce5, Wdtc2

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0238 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

25235056-25318461 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 25264497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 557 (C557*)

Ref Sequence

ENSEMBL: ENSMUSP00000116163 (fasta)

Gene Model

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

AlphaFold

E9PY46

Predicted Effect

probably null
Transcript: ENSMUST00000024983
AA Change: C557*

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: C557*

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 null
Transcript: ENSMUST00000137386
AA Change: C557*

SMART Domains

Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: C557*

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: ENSMUST00000140692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153895

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

98% (105/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Cul2	A	G	18: 3,414,115 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hpn	G	T	7: 30,798,815 (GRCm39)		probably benign	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,314,060 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nbn	T	C	4: 15,986,672 (GRCm39)		probably benign	Het
Ndufa4	C	T	6: 11,906,023 (GRCm39)	V10I	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Scgb1b27	G	A	7: 33,721,377 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Six3	G	A	17: 85,928,818 (GRCm39)	G51R	probably damaging	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	probably damaging	Het
Zfp866	T	C	8: 70,219,365 (GRCm39)	Y53C	probably 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
IGL03206:Ift140	APN	17	25,311,800 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGGGGACTGTCAAACAACTTC -3'
(R):5'- ACAGCTATGTCTGTCAGGTCCTGC -3'

Sequencing Primer
(F):5'- AGAAGGTACAGTTTCCTTCCAC -3'
(R):5'- TGCTAAGGAGGATGCTGATC -3'

Posted On

2013-07-11