Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Ift140'

388192

Institutional Source

Beutler Lab

Gene Symbol

Ift140

Ensembl Gene

ENSMUSG00000024169

Gene Name

intraflagellar transport 140

Synonyms

Tce5, Wdtc2

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5099 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25235056-25318461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25309674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1068 (M1068K)

Ref Sequence

ENSEMBL: ENSMUSP00000116163 (fasta)

Gene Model

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

AlphaFold

E9PY46

Predicted Effect

probably damaging
Transcript: ENSMUST00000024983
AA Change: M1068K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: M1068K

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 damaging
Transcript: ENSMUST00000137386
AA Change: M1068K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: M1068K

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

Meta Mutation Damage Score

0.2046

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsa	A	G	15: 89,359,542 (GRCm39)	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,570,533 (GRCm39)	D33G	probably benign	Het
Ccdc178	A	T	18: 22,238,648 (GRCm39)	V323E	probably benign	Het
Ceacam5	T	C	7: 17,479,513 (GRCm39)	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Gbp9	A	T	5: 105,242,379 (GRCm39)	L120Q	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsr	T	A	8: 34,161,556 (GRCm39)	I121N	probably damaging	Het
Jakmip2	A	G	18: 43,701,173 (GRCm39)	I414T	probably benign	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mecom	A	G	3: 30,039,465 (GRCm39)		probably benign	Het
Mff	C	T	1: 82,728,192 (GRCm39)		probably benign	Het
Ms4a20	T	C	19: 11,089,825 (GRCm39)		probably null	Het
Neb	C	T	2: 52,085,460 (GRCm39)	C1545Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,266 (GRCm39)	G266D	probably benign	Het
Or5p5	A	G	7: 107,413,809 (GRCm39)	H6R	probably benign	Het
Or8k36-ps1	A	T	2: 86,437,560 (GRCm39)	N118K	unknown	Het
Ppm1n	A	T	7: 19,011,903 (GRCm39)	L392Q	possibly damaging	Het
Prr22	T	C	17: 57,078,467 (GRCm39)	F207L	probably benign	Het
Ptprv	T	C	1: 135,046,592 (GRCm39)		noncoding transcript	Het
Rin2	G	A	2: 145,720,821 (GRCm39)	C718Y	probably damaging	Het
Rpgrip1l	G	A	8: 91,975,350 (GRCm39)	T1089I	probably benign	Het
Scn1a	A	G	2: 66,108,145 (GRCm39)	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,105,764 (GRCm39)	Y587F	probably damaging	Het
Sp2	T	C	11: 96,852,175 (GRCm39)	K250E	probably damaging	Het
Ssu2	A	G	6: 112,336,585 (GRCm39)	S333P	probably benign	Het
Strbp	T	C	2: 37,493,030 (GRCm39)	T419A	probably damaging	Het
Tada2b	A	T	5: 36,633,744 (GRCm39)	M203K	probably benign	Het
Tmem176b	T	C	6: 48,811,463 (GRCm39)	Y62C	probably benign	Het
Tox	G	T	4: 6,688,958 (GRCm39)	Q469K	probably benign	Het
Trgv5	G	T	13: 19,376,886 (GRCm39)	C111F	probably damaging	Het
Tyw5	T	C	1: 57,427,864 (GRCm39)	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,113,307 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,275,914 (GRCm39)	R83Q	probably damaging	Het
Unk	A	G	11: 115,949,936 (GRCm39)	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,547,816 (GRCm39)	C95S	probably damaging	Het
Vmn1r81	A	G	7: 11,994,248 (GRCm39)	I120T	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
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
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
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'- TAGTAAGGCCTGGTGCTTCC -3'
(R):5'- AGGGCCTTGGAAAAGTGTC -3'

Sequencing Primer
(F):5'- GTAAGGCCTGGTGCTTCCTAAAAAC -3'
(R):5'- AAAGTGTCCAGCCTATGTGC -3'

Posted On

2016-06-06