Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03271:Ift140'

415274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift140

Ensembl Gene

ENSMUSG00000024169

Gene Name

intraflagellar transport 140

Synonyms

Tce5, Wdtc2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03271

Quality Score

Status

Chromosome

Chromosomal Location

25016091-25099495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25087906 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 872 (R872S)

Ref Sequence

ENSEMBL: ENSMUSP00000116163 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024983
AA Change: R872S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: R872S

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: R872S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: R872S

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,255,874	V248L	probably benign	Het
Actl6b	T	A	5: 137,565,984	I256N	probably damaging	Het
Agl	G	T	3: 116,779,127	T825K	probably benign	Het
Arid5b	A	T	10: 68,097,457	S629T	possibly damaging	Het
Atp13a2	T	C	4: 141,000,397	I495T	possibly damaging	Het
Bcl6	G	T	16: 23,970,006	H537Q	probably benign	Het
Cdh12	A	G	15: 21,586,453	E786G	probably benign	Het
Cep290	T	A	10: 100,537,801	N1307K	probably benign	Het
Cops3	A	T	11: 59,833,063	N89K	probably damaging	Het
Cyp4a29	T	C	4: 115,254,508	V494A	probably damaging	Het
Dlg1	A	G	16: 31,857,892	H675R	possibly damaging	Het
Dnajc6	T	A	4: 101,508,077		probably benign	Het
Dock10	C	A	1: 80,505,409	K2107N	probably damaging	Het
Dopey1	T	A	9: 86,504,222	L382*	probably null	Het
Faxc	A	C	4: 21,948,757	K156N	possibly damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapvd1	C	A	2: 34,727,207		probably benign	Het
Gfm1	T	C	3: 67,474,743	Y717H	probably damaging	Het
Gm4884	A	T	7: 41,043,275	T223S	probably benign	Het
Gstm3	C	A	3: 107,966,197	V153F	possibly damaging	Het
H2-M10.5	G	T	17: 36,773,351	L68F	possibly damaging	Het
Hmcn1	G	T	1: 150,598,424	H4756N	possibly damaging	Het
Lars2	T	A	9: 123,459,484		probably null	Het
Ltbp4	A	G	7: 27,329,815	V149A	unknown	Het
Mpp2	A	T	11: 102,063,423		probably benign	Het
Mybbp1a	A	G	11: 72,443,918		probably benign	Het
Nxpe4	C	A	9: 48,393,045	P144Q	probably damaging	Het
Olfr1341	T	A	4: 118,709,785	I126N	probably damaging	Het
Olfr478	C	T	7: 108,031,507	V279M	probably damaging	Het
Parp4	C	A	14: 56,585,625	N67K	probably benign	Het
Pdk1	G	T	2: 71,880,030		probably benign	Het
Phip	A	T	9: 82,884,824		probably benign	Het
Pls1	A	G	9: 95,776,830	S202P	probably benign	Het
Pmpcb	A	G	5: 21,738,876	Y36C	probably benign	Het
Pole	T	C	5: 110,318,319	S1296P	probably benign	Het
Ptpn13	T	C	5: 103,462,148	S4P	probably damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Sec61a2	A	T	2: 5,882,934	L79*	probably null	Het
Slc2a5	T	C	4: 150,135,583	L152P	probably damaging	Het
Smu1	C	T	4: 40,738,408	G442D	probably benign	Het
Spag16	T	A	1: 69,853,352	N97K	probably benign	Het
Spag6l	C	T	16: 16,780,728	D300N	probably damaging	Het
Sult3a1	A	G	10: 33,864,001	T19A	probably benign	Het
Ttll6	A	G	11: 96,156,687	H704R	probably benign	Het
Uba1	T	A	X: 20,675,717	D569E	probably damaging	Het
Umodl1	T	A	17: 30,986,499	Y689*	probably null	Het
Unc80	A	G	1: 66,695,603		probably benign	Het
Utp15	C	A	13: 98,253,694	V282F	probably damaging	Het
Vmn1r184	A	G	7: 26,267,609	Y260C	probably benign	Het
Vmn1r69	A	G	7: 10,580,669	V45A	probably benign	Het
Vmn2r4	C	A	3: 64,398,429	R524L	probably benign	Het

Other mutations in Ift140

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Ift140	APN	17	25055644	missense	probably damaging	1.00
IGL00966:Ift140	APN	17	25018802	missense	probably damaging	1.00
IGL01082:Ift140	APN	17	25048455	missense	possibly damaging	0.89
IGL01394:Ift140	APN	17	25094702	missense	probably benign	0.02
IGL01816:Ift140	APN	17	25087025	splice site	probably null
IGL01994:Ift140	APN	17	25048443	missense	probably damaging	1.00
IGL02102:Ift140	APN	17	25033130	missense	probably benign	0.03
IGL02207:Ift140	APN	17	25055598	missense	probably benign
IGL02493:Ift140	APN	17	25087924	nonsense	probably null
IGL02735:Ift140	APN	17	25034035	splice site	probably benign
IGL02902:Ift140	APN	17	25090762	missense	probably damaging	1.00
IGL03037:Ift140	APN	17	25092394	missense	probably benign	0.02
IGL03122:Ift140	APN	17	25086910	missense	probably damaging	1.00
IGL03206:Ift140	APN	17	25092826	missense	probably damaging	0.98
IGL03358:Ift140	APN	17	25087984	missense	probably damaging	1.00
PIT4515001:Ift140	UTSW	17	25086860	missense	probably damaging	0.98
R0100:Ift140	UTSW	17	25090954	nonsense	probably null
R0100:Ift140	UTSW	17	25090954	nonsense	probably null
R0197:Ift140	UTSW	17	25090933	missense	probably benign	0.09
R0238:Ift140	UTSW	17	25045523	nonsense	probably null
R0238:Ift140	UTSW	17	25045523	nonsense	probably null
R0239:Ift140	UTSW	17	25045523	nonsense	probably null
R0239:Ift140	UTSW	17	25045523	nonsense	probably null
R0355:Ift140	UTSW	17	25048435	nonsense	probably null
R0399:Ift140	UTSW	17	25050340	missense	possibly damaging	0.77
R0574:Ift140	UTSW	17	25051760	splice site	probably null
R0610:Ift140	UTSW	17	25035803	missense	probably benign	0.06
R0701:Ift140	UTSW	17	25090933	missense	probably benign	0.09
R0883:Ift140	UTSW	17	25090933	missense	probably benign	0.09
R0900:Ift140	UTSW	17	25035812	missense	probably benign	0.22
R1167:Ift140	UTSW	17	25035745	missense	probably benign	0.01
R1295:Ift140	UTSW	17	25088933	critical splice donor site	probably null
R1588:Ift140	UTSW	17	25087985	missense	probably damaging	1.00
R1619:Ift140	UTSW	17	25088865	missense	probably damaging	1.00
R1637:Ift140	UTSW	17	25025634	missense	probably benign	0.40
R1854:Ift140	UTSW	17	25035839	missense	probably benign	0.05
R2397:Ift140	UTSW	17	25020736	missense	probably damaging	1.00
R2510:Ift140	UTSW	17	25036308	missense	probably benign	0.02
R2918:Ift140	UTSW	17	25035831	missense	possibly damaging	0.66
R3433:Ift140	UTSW	17	25036308	missense	probably benign	0.02
R3878:Ift140	UTSW	17	25028944	missense	probably benign	0.25
R4559:Ift140	UTSW	17	25090767	missense	probably damaging	0.97
R4670:Ift140	UTSW	17	25098961	unclassified	probably benign
R4711:Ift140	UTSW	17	25094717	splice site	probably null
R4934:Ift140	UTSW	17	25048488	missense	probably benign
R4949:Ift140	UTSW	17	25094665	missense	probably benign	0.06
R4982:Ift140	UTSW	17	25036994	missense	probably damaging	0.99
R5099:Ift140	UTSW	17	25090700	missense	probably damaging	1.00
R5223:Ift140	UTSW	17	25035812	missense	probably benign	0.22
R5268:Ift140	UTSW	17	25020627	missense	possibly damaging	0.48
R5423:Ift140	UTSW	17	25033085	missense	probably damaging	0.96
R5480:Ift140	UTSW	17	25020576	missense	probably damaging	1.00
R5655:Ift140	UTSW	17	25045064	missense	probably damaging	1.00
R5756:Ift140	UTSW	17	25028813	missense	possibly damaging	0.62
R5837:Ift140	UTSW	17	25089540	missense	probably damaging	1.00
R5894:Ift140	UTSW	17	25033919	missense	possibly damaging	0.92
R5907:Ift140	UTSW	17	25092371	missense	probably benign	0.02
R5966:Ift140	UTSW	17	25094761	nonsense	probably null
R6000:Ift140	UTSW	17	25036960	missense	probably benign	0.00
R6046:Ift140	UTSW	17	25055589	missense	probably benign	0.00
R6050:Ift140	UTSW	17	25091005	missense	probably damaging	1.00
R6103:Ift140	UTSW	17	25093126	missense	probably damaging	1.00
R6239:Ift140	UTSW	17	25028972	missense	probably benign	0.26
R6287:Ift140	UTSW	17	25050434	missense	probably benign
R6539:Ift140	UTSW	17	25094669	missense	possibly damaging	0.87
R6656:Ift140	UTSW	17	25032173	missense	probably damaging	0.96
R6723:Ift140	UTSW	17	25033116	missense	probably benign	0.08
R6749:Ift140	UTSW	17	25098916	missense	probably damaging	0.99
R6892:Ift140	UTSW	17	25020546	missense	possibly damaging	0.95
R7151:Ift140	UTSW	17	25055725	missense	probably damaging	1.00
R7235:Ift140	UTSW	17	25020645	missense	possibly damaging	0.88
R7424:Ift140	UTSW	17	25037036	missense	possibly damaging	0.81
R7552:Ift140	UTSW	17	25033115	missense	probably benign	0.02
R7560:Ift140	UTSW	17	25092341	missense	probably benign	0.28
R7660:Ift140	UTSW	17	25051824	missense	probably damaging	1.00
R8105:Ift140	UTSW	17	25036975	missense	probably benign	0.01
R8415:Ift140	UTSW	17	25092915	missense	probably damaging	0.99
R8437:Ift140	UTSW	17	25094677	missense	probably damaging	0.99

Posted On

2016-08-02