Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01394:Ift140'

79341

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 #

IGL01394

Quality Score

Status

Chromosome

Chromosomal Location

25016091-25099495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25094702 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1369 (D1369G)

Ref Sequence

ENSEMBL: ENSMUSP00000024983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024987] [ENSMUST00000115181] [ENSMUST00000137386]

Predicted Effect

probably benign
Transcript: ENSMUST00000024983
AA Change: D1369G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: D1369G

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: ENSMUST00000024987

SMART Domains

Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115181

SMART Domains

Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

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: ENSMUST00000142000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155632

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	A	7: 131,146,231	Q11*	probably null	Het
Acot5	T	C	12: 84,075,488	I282T	probably benign	Het
Adcy2	A	G	13: 68,982,402	V122A	probably damaging	Het
Aldh16a1	A	C	7: 45,145,513	S511A	probably benign	Het
Arid3b	T	C	9: 57,795,034	E480G	probably damaging	Het
Baz2a	T	C	10: 128,118,645	V723A	possibly damaging	Het
Bmpr1b	A	G	3: 141,862,981		probably null	Het
Ccdc83	T	C	7: 90,224,001	E382G	probably damaging	Het
Cfap46	A	G	7: 139,666,979	Y349H	probably damaging	Het
Clpx	T	C	9: 65,310,213	V21A	probably damaging	Het
Clstn1	A	G	4: 149,634,782	N356S	possibly damaging	Het
Ctnnd1	A	G	2: 84,605,256		probably benign	Het
Dock1	A	G	7: 134,766,216	N505S	probably benign	Het
Eaf2	G	A	16: 36,810,566	P82S	probably damaging	Het
Fbxw26	T	C	9: 109,717,989	Y456C	probably benign	Het
Foxred2	T	C	15: 77,955,620	T157A	probably benign	Het
Fscb	A	T	12: 64,473,804	I296K	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,562		noncoding transcript	Het
Golgb1	A	G	16: 36,931,564	E3120G	probably damaging	Het
Kcnk13	T	C	12: 100,061,662	V332A	probably benign	Het
Lama3	T	A	18: 12,531,926	D661E	probably null	Het
Lum	A	T	10: 97,568,972	D243V	probably damaging	Het
Mgat4c	A	G	10: 102,385,114	T86A	possibly damaging	Het
Mpdz	A	T	4: 81,292,491	V1706D	possibly damaging	Het
Myrfl	T	C	10: 116,822,687	Q455R	probably benign	Het
Olfr420	T	C	1: 174,158,857	F28S	probably damaging	Het
Olfr898	T	A	9: 38,349,805	S241T	possibly damaging	Het
Papolg	G	A	11: 23,867,235	T654I	probably benign	Het
Pappa2	G	A	1: 158,765,104		probably benign	Het
Plekhh2	C	T	17: 84,557,430	T82I	probably benign	Het
Prrc2a	A	G	17: 35,153,104	V1773A	probably benign	Het
Psmb8	G	T	17: 34,200,729	V186L	probably damaging	Het
Rin3	T	C	12: 102,373,603	V604A	probably damaging	Het
Rtn1	T	C	12: 72,308,416	D252G	probably benign	Het
Sdk1	C	T	5: 141,613,215	H212Y	probably benign	Het
Slc5a5	G	T	8: 70,889,388	Y307*	probably null	Het
Slc9a9	T	A	9: 95,123,037	L499Q	probably benign	Het
Snx8	C	A	5: 140,352,179	G237V	probably benign	Het
Spata18	T	A	5: 73,679,345		probably null	Het
Stard9	A	G	2: 120,706,327	E417G	possibly damaging	Het
Ubr5	T	C	15: 38,009,631	D1034G	possibly damaging	Het
Upf2	A	G	2: 6,040,213		probably null	Het
Xrcc6	A	G	15: 82,025,661	K89R	possibly damaging	Het
Yeats2	T	C	16: 20,162,032	V237A	probably damaging	Het
Zdhhc6	A	G	19: 55,309,892	W178R	probably benign	Het
Zfp280b	C	A	10: 76,039,663	Q459K	probably damaging	Het
Zfp811	C	A	17: 32,797,820	K414N	probably damaging	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
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
IGL03271:Ift140	APN	17	25087906	missense	probably damaging	1.00
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

2013-11-05