Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00476:Ift172'

6457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

wim

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00476

Quality Score

Status

Chromosome

Chromosomal Location

31253277-31291116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31275896 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 550 (Y550H)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041565]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041565
AA Change: Y550H

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

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: Y550H

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201274

Predicted Effect

probably benign
Transcript: ENSMUST00000202585

SMART Domains

Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
Blast:WD40	46	78	2e-11	BLAST

Predicted Effect

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 a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610002M06Rik	A	C	X: 107,816,160		probably benign	Het
4931414P19Rik	T	C	14: 54,595,578	T47A	possibly damaging	Het
Adgrv1	A	G	13: 81,489,074	F3416S	probably damaging	Het
Arhgap42	T	C	9: 9,006,343	D684G	probably damaging	Het
Atp13a1	T	C	8: 69,796,897	L270P	probably damaging	Het
Baz2b	T	C	2: 59,913,739	N1474S	probably benign	Het
Chrna6	A	G	8: 27,406,532	I439T	probably damaging	Het
Cylc2	T	C	4: 51,228,157	M76T	probably damaging	Het
Ddx19a	T	C	8: 110,976,470	K445R	probably benign	Het
Dennd4a	A	T	9: 64,911,762	Y1733F	probably damaging	Het
Dopey2	G	A	16: 93,800,026		probably benign	Het
Dpcr1	G	T	17: 35,638,102	H202N	possibly damaging	Het
Ephb3	T	A	16: 21,220,415		probably null	Het
Gpc2	G	A	5: 138,274,309		probably benign	Het
Kat2a	G	A	11: 100,705,384	R782W	probably damaging	Het
Ldhd	G	T	8: 111,628,638	R238S	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mipep	T	G	14: 60,827,361	L388R	probably damaging	Het
Naa35	A	G	13: 59,630,055	D610G	probably damaging	Het
Nae1	A	T	8: 104,526,381	L137Q	possibly damaging	Het
Nt5dc3	T	C	10: 86,833,974		probably null	Het
Nyx	T	C	X: 13,487,025	F373L	possibly damaging	Het
Scaf11	A	T	15: 96,418,580	D1034E	possibly damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Taar7a	A	T	10: 23,992,396		probably benign	Het
Tcf23	G	T	5: 30,973,525	C169F	probably benign	Het
Trim7	A	T	11: 48,848,078	N308I	probably benign	Het
Ubxn8	T	C	8: 33,635,305	E89G	probably benign	Het

Other mutations in Ift172

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Ift172	APN	5	31266248	missense	probably benign
IGL01405:Ift172	APN	5	31261852	nonsense	probably null
IGL01562:Ift172	APN	5	31267247	missense	probably damaging	0.97
IGL01758:Ift172	APN	5	31280714	missense	probably benign
IGL01792:Ift172	APN	5	31276871	missense	probably damaging	1.00
IGL01830:Ift172	APN	5	31285292	missense	probably damaging	1.00
IGL01839:Ift172	APN	5	31266350	missense	probably damaging	1.00
IGL02007:Ift172	APN	5	31286604	missense	probably benign	0.17
IGL02172:Ift172	APN	5	31281337	splice site	probably benign
IGL02190:Ift172	APN	5	31254458	missense	possibly damaging	0.51
IGL02334:Ift172	APN	5	31283058	missense	probably benign	0.00
IGL02486:Ift172	APN	5	31257583	missense	probably damaging	1.00
IGL02517:Ift172	APN	5	31253648	unclassified	probably null
IGL02571:Ift172	APN	5	31257891	missense	probably damaging	1.00
IGL02626:Ift172	APN	5	31264496	missense	probably benign
IGL03183:Ift172	APN	5	31272004	missense	probably benign	0.06
IGL03277:Ift172	APN	5	31267298	missense	possibly damaging	0.92
IGL03349:Ift172	APN	5	31284130	missense	probably benign	0.05
pushback	UTSW	5	31286945	missense	probably damaging	1.00
P0042:Ift172	UTSW	5	31261455	missense	probably benign	0.35
PIT4802001:Ift172	UTSW	5	31285266	missense	probably benign	0.03
R0153:Ift172	UTSW	5	31260624	missense	probably benign
R0328:Ift172	UTSW	5	31263851	nonsense	probably null
R0357:Ift172	UTSW	5	31257900	missense	possibly damaging	0.51
R0369:Ift172	UTSW	5	31253641	missense	probably damaging	1.00
R0391:Ift172	UTSW	5	31286667	missense	probably damaging	1.00
R0512:Ift172	UTSW	5	31285477	missense	possibly damaging	0.92
R0546:Ift172	UTSW	5	31257601	missense	probably benign	0.14
R0553:Ift172	UTSW	5	31275842	splice site	probably benign
R0606:Ift172	UTSW	5	31254313	missense	probably damaging	0.99
R0834:Ift172	UTSW	5	31257371	missense	probably benign
R0973:Ift172	UTSW	5	31265355	missense	probably benign
R0973:Ift172	UTSW	5	31257918	unclassified	probably benign
R1189:Ift172	UTSW	5	31285830	critical splice acceptor site	probably null
R1205:Ift172	UTSW	5	31285792	missense	probably benign
R1289:Ift172	UTSW	5	31280976	missense	probably damaging	0.98
R1342:Ift172	UTSW	5	31261866	missense	probably benign
R1395:Ift172	UTSW	5	31285238	unclassified	probably benign
R1417:Ift172	UTSW	5	31256649	missense	probably damaging	1.00
R2020:Ift172	UTSW	5	31267241	nonsense	probably null
R2111:Ift172	UTSW	5	31286079	missense	probably benign	0.04
R2175:Ift172	UTSW	5	31266685	missense	probably damaging	1.00
R2509:Ift172	UTSW	5	31262968	missense	probably benign
R2870:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2870:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R3705:Ift172	UTSW	5	31261437	critical splice donor site	probably null
R3793:Ift172	UTSW	5	31257581	missense	possibly damaging	0.61
R4385:Ift172	UTSW	5	31286967	missense	probably damaging	1.00
R4477:Ift172	UTSW	5	31265437	missense	probably benign	0.38
R4590:Ift172	UTSW	5	31253955	missense	probably damaging	1.00
R4663:Ift172	UTSW	5	31284215	missense	probably benign	0.01
R4665:Ift172	UTSW	5	31285254	missense	possibly damaging	0.82
R4977:Ift172	UTSW	5	31272116	missense	possibly damaging	0.79
R5109:Ift172	UTSW	5	31265986	missense	probably benign	0.06
R5182:Ift172	UTSW	5	31267614	missense	possibly damaging	0.51
R5343:Ift172	UTSW	5	31263812	missense	probably benign	0.05
R5465:Ift172	UTSW	5	31261518	splice site	probably null
R5622:Ift172	UTSW	5	31283082	missense	probably damaging	1.00
R5718:Ift172	UTSW	5	31255277	missense	possibly damaging	0.94
R5793:Ift172	UTSW	5	31276948	missense	possibly damaging	0.96
R5870:Ift172	UTSW	5	31276940	missense	probably benign	0.10
R5919:Ift172	UTSW	5	31260662	missense	possibly damaging	0.63
R5968:Ift172	UTSW	5	31261484	missense	probably damaging	1.00
R6112:Ift172	UTSW	5	31256897	missense	probably benign
R6339:Ift172	UTSW	5	31256583	missense	probably benign	0.00
R6339:Ift172	UTSW	5	31286945	missense	probably damaging	1.00
R6355:Ift172	UTSW	5	31284157	missense	probably benign	0.33
R6565:Ift172	UTSW	5	31275883	missense	possibly damaging	0.68
R6668:Ift172	UTSW	5	31255339	missense	probably benign	0.00
R6755:Ift172	UTSW	5	31260998	nonsense	probably null
R6818:Ift172	UTSW	5	31265960	missense	probably benign	0.01
R6939:Ift172	UTSW	5	31257586	missense	probably damaging	1.00
R6980:Ift172	UTSW	5	31257386	missense	probably benign
R7047:Ift172	UTSW	5	31275894	nonsense	probably null
R7156:Ift172	UTSW	5	31272075	missense	probably damaging	1.00
R7180:Ift172	UTSW	5	31254262	missense	probably damaging	1.00
R7288:Ift172	UTSW	5	31285286	missense	probably damaging	1.00
R7351:Ift172	UTSW	5	31275896	missense	probably damaging	1.00
R7706:Ift172	UTSW	5	31266379	nonsense	probably null
R7890:Ift172	UTSW	5	31283081	nonsense	probably null
R7973:Ift172	UTSW	5	31283081	nonsense	probably null
X0022:Ift172	UTSW	5	31285320	missense	probably damaging	0.97
Z1176:Ift172	UTSW	5	31276924	missense	probably damaging	1.00

Posted On

2012-04-20