Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03277:Ift172'

415460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03277

Quality Score

Status

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31424642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 684 (V684A)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

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

AlphaFold

Q6VH22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041565
AA Change: V684A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: V684A

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: ENSMUST00000200936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201953

Predicted Effect

unknown
Transcript: ENSMUST00000202585
AA Change: V182A

SMART Domains

Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564
AA Change: V182A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202589

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amt	A	G	9: 108,178,418 (GRCm39)	T342A	probably benign	Het
Atosa	G	A	9: 74,916,514 (GRCm39)	R371Q	probably damaging	Het
B3glct	T	C	5: 149,650,299 (GRCm39)	L134P	probably damaging	Het
Bms1	A	T	6: 118,382,083 (GRCm39)	M485K	probably benign	Het
Chd6	T	C	2: 160,824,981 (GRCm39)	N1226S	probably null	Het
Cpne2	T	C	8: 95,275,000 (GRCm39)	Y3H	probably benign	Het
Dmxl2	A	G	9: 54,311,504 (GRCm39)	V1739A	probably damaging	Het
Dnah7a	T	A	1: 53,669,481 (GRCm39)	T543S	probably benign	Het
Dock11	T	G	X: 35,277,603 (GRCm39)	V1000G	probably benign	Het
Ednrb	T	A	14: 104,080,735 (GRCm39)	N60Y	probably benign	Het
Eif3d	A	G	15: 77,843,849 (GRCm39)	M499T	possibly damaging	Het
Elmod1	G	A	9: 53,833,272 (GRCm39)	L178F	probably damaging	Het
Hrh4	T	C	18: 13,148,940 (GRCm39)	S101P	probably damaging	Het
Mtx2	A	G	2: 74,698,748 (GRCm39)	T124A	probably damaging	Het
Nat3	T	A	8: 68,000,341 (GRCm39)	H73Q	probably benign	Het
Ndst2	A	G	14: 20,780,234 (GRCm39)	L2P	possibly damaging	Het
Nipsnap3a	G	T	4: 52,997,219 (GRCm39)	A162S	probably benign	Het
Or2a57	T	G	6: 43,212,876 (GRCm39)	C111W	probably damaging	Het
Or5m5	T	C	2: 85,814,517 (GRCm39)	I111T	probably damaging	Het
Peg3	T	C	7: 6,714,673 (GRCm39)	D183G	probably damaging	Het
Prlr	A	G	15: 10,328,887 (GRCm39)	E454G	probably benign	Het
Prom1	G	A	5: 44,190,313 (GRCm39)	Q364*	probably null	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sema5b	A	G	16: 35,471,682 (GRCm39)	D425G	probably damaging	Het
Slc16a7	A	T	10: 125,066,560 (GRCm39)	C360S	probably benign	Het
Slc38a7	T	A	8: 96,575,104 (GRCm39)	I59F	probably damaging	Het
Slc5a6	A	G	5: 31,195,372 (GRCm39)	C449R	possibly damaging	Het
Slc9b1	T	C	3: 135,096,269 (GRCm39)	Y357H	possibly damaging	Het
Snx17	A	T	5: 31,353,084 (GRCm39)		probably benign	Het
Stk32b	A	C	5: 37,786,320 (GRCm39)	M48R	probably damaging	Het
Tspan9	A	G	6: 127,944,038 (GRCm39)		probably null	Het
Tst	A	T	15: 78,289,521 (GRCm39)	N171K	probably damaging	Het
Vmn1r180	T	A	7: 23,652,710 (GRCm39)	I291N	probably damaging	Het
Vmn2r32	T	A	7: 7,477,251 (GRCm39)	D380V	probably benign	Het
Wdfy4	T	C	14: 32,790,861 (GRCm39)	T2189A	probably benign	Het
Zbtb20	A	G	16: 43,438,800 (GRCm39)	N640S	possibly damaging	Het
Zfp142	A	G	1: 74,610,193 (GRCm39)	S1098P	probably damaging	Het

Other mutations in Ift172

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ift172	APN	5	31,433,240 (GRCm39)	missense	probably damaging	1.00
IGL01399:Ift172	APN	5	31,423,592 (GRCm39)	missense	probably benign
IGL01405:Ift172	APN	5	31,419,196 (GRCm39)	nonsense	probably null
IGL01562:Ift172	APN	5	31,424,591 (GRCm39)	missense	probably damaging	0.97
IGL01758:Ift172	APN	5	31,438,058 (GRCm39)	missense	probably benign
IGL01792:Ift172	APN	5	31,434,215 (GRCm39)	missense	probably damaging	1.00
IGL01830:Ift172	APN	5	31,442,636 (GRCm39)	missense	probably damaging	1.00
IGL01839:Ift172	APN	5	31,423,694 (GRCm39)	missense	probably damaging	1.00
IGL02007:Ift172	APN	5	31,443,948 (GRCm39)	missense	probably benign	0.17
IGL02172:Ift172	APN	5	31,438,681 (GRCm39)	splice site	probably benign
IGL02190:Ift172	APN	5	31,411,802 (GRCm39)	missense	possibly damaging	0.51
IGL02334:Ift172	APN	5	31,440,402 (GRCm39)	missense	probably benign	0.00
IGL02486:Ift172	APN	5	31,414,927 (GRCm39)	missense	probably damaging	1.00
IGL02517:Ift172	APN	5	31,410,992 (GRCm39)	splice site	probably null
IGL02571:Ift172	APN	5	31,415,235 (GRCm39)	missense	probably damaging	1.00
IGL02626:Ift172	APN	5	31,421,840 (GRCm39)	missense	probably benign
IGL03183:Ift172	APN	5	31,429,348 (GRCm39)	missense	probably benign	0.06
IGL03349:Ift172	APN	5	31,441,474 (GRCm39)	missense	probably benign	0.05
ostinato	UTSW	5	31,434,284 (GRCm39)	missense	probably benign	0.10
pushback	UTSW	5	31,444,289 (GRCm39)	missense	probably damaging	1.00
P0042:Ift172	UTSW	5	31,418,799 (GRCm39)	missense	probably benign	0.35
PIT4802001:Ift172	UTSW	5	31,442,610 (GRCm39)	missense	probably benign	0.03
R0153:Ift172	UTSW	5	31,417,968 (GRCm39)	missense	probably benign
R0328:Ift172	UTSW	5	31,421,195 (GRCm39)	nonsense	probably null
R0357:Ift172	UTSW	5	31,415,244 (GRCm39)	missense	possibly damaging	0.51
R0369:Ift172	UTSW	5	31,410,985 (GRCm39)	missense	probably damaging	1.00
R0391:Ift172	UTSW	5	31,444,011 (GRCm39)	missense	probably damaging	1.00
R0512:Ift172	UTSW	5	31,442,821 (GRCm39)	missense	possibly damaging	0.92
R0546:Ift172	UTSW	5	31,414,945 (GRCm39)	missense	probably benign	0.14
R0553:Ift172	UTSW	5	31,433,186 (GRCm39)	splice site	probably benign
R0606:Ift172	UTSW	5	31,411,657 (GRCm39)	missense	probably damaging	0.99
R0834:Ift172	UTSW	5	31,414,715 (GRCm39)	missense	probably benign
R0973:Ift172	UTSW	5	31,415,262 (GRCm39)	unclassified	probably benign
R0973:Ift172	UTSW	5	31,422,699 (GRCm39)	missense	probably benign
R1189:Ift172	UTSW	5	31,443,174 (GRCm39)	critical splice acceptor site	probably null
R1205:Ift172	UTSW	5	31,443,136 (GRCm39)	missense	probably benign
R1289:Ift172	UTSW	5	31,438,320 (GRCm39)	missense	probably damaging	0.98
R1342:Ift172	UTSW	5	31,419,210 (GRCm39)	missense	probably benign
R1395:Ift172	UTSW	5	31,442,582 (GRCm39)	unclassified	probably benign
R1417:Ift172	UTSW	5	31,413,993 (GRCm39)	missense	probably damaging	1.00
R2020:Ift172	UTSW	5	31,424,585 (GRCm39)	nonsense	probably null
R2111:Ift172	UTSW	5	31,443,423 (GRCm39)	missense	probably benign	0.04
R2175:Ift172	UTSW	5	31,424,029 (GRCm39)	missense	probably damaging	1.00
R2509:Ift172	UTSW	5	31,420,312 (GRCm39)	missense	probably benign
R2870:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2870:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R3705:Ift172	UTSW	5	31,418,781 (GRCm39)	critical splice donor site	probably null
R3793:Ift172	UTSW	5	31,414,925 (GRCm39)	missense	possibly damaging	0.61
R4385:Ift172	UTSW	5	31,444,311 (GRCm39)	missense	probably damaging	1.00
R4477:Ift172	UTSW	5	31,422,781 (GRCm39)	missense	probably benign	0.38
R4590:Ift172	UTSW	5	31,411,299 (GRCm39)	missense	probably damaging	1.00
R4663:Ift172	UTSW	5	31,441,559 (GRCm39)	missense	probably benign	0.01
R4665:Ift172	UTSW	5	31,442,598 (GRCm39)	missense	possibly damaging	0.82
R4977:Ift172	UTSW	5	31,429,460 (GRCm39)	missense	possibly damaging	0.79
R5109:Ift172	UTSW	5	31,423,330 (GRCm39)	missense	probably benign	0.06
R5182:Ift172	UTSW	5	31,424,958 (GRCm39)	missense	possibly damaging	0.51
R5343:Ift172	UTSW	5	31,421,156 (GRCm39)	missense	probably benign	0.05
R5465:Ift172	UTSW	5	31,418,862 (GRCm39)	splice site	probably null
R5622:Ift172	UTSW	5	31,440,426 (GRCm39)	missense	probably damaging	1.00
R5718:Ift172	UTSW	5	31,412,621 (GRCm39)	missense	possibly damaging	0.94
R5793:Ift172	UTSW	5	31,434,292 (GRCm39)	missense	possibly damaging	0.96
R5870:Ift172	UTSW	5	31,434,284 (GRCm39)	missense	probably benign	0.10
R5919:Ift172	UTSW	5	31,418,006 (GRCm39)	missense	possibly damaging	0.63
R5968:Ift172	UTSW	5	31,418,828 (GRCm39)	missense	probably damaging	1.00
R6112:Ift172	UTSW	5	31,414,241 (GRCm39)	missense	probably benign
R6339:Ift172	UTSW	5	31,444,289 (GRCm39)	missense	probably damaging	1.00
R6339:Ift172	UTSW	5	31,413,927 (GRCm39)	missense	probably benign	0.00
R6355:Ift172	UTSW	5	31,441,501 (GRCm39)	missense	probably benign	0.33
R6565:Ift172	UTSW	5	31,433,227 (GRCm39)	missense	possibly damaging	0.68
R6668:Ift172	UTSW	5	31,412,683 (GRCm39)	missense	probably benign	0.00
R6755:Ift172	UTSW	5	31,418,342 (GRCm39)	nonsense	probably null
R6818:Ift172	UTSW	5	31,423,304 (GRCm39)	missense	probably benign	0.01
R6939:Ift172	UTSW	5	31,414,930 (GRCm39)	missense	probably damaging	1.00
R6980:Ift172	UTSW	5	31,414,730 (GRCm39)	missense	probably benign
R7047:Ift172	UTSW	5	31,433,238 (GRCm39)	nonsense	probably null
R7156:Ift172	UTSW	5	31,429,419 (GRCm39)	missense	probably damaging	1.00
R7180:Ift172	UTSW	5	31,411,606 (GRCm39)	missense	probably damaging	1.00
R7288:Ift172	UTSW	5	31,442,630 (GRCm39)	missense	probably damaging	1.00
R7351:Ift172	UTSW	5	31,433,240 (GRCm39)	missense	probably damaging	1.00
R7706:Ift172	UTSW	5	31,423,723 (GRCm39)	nonsense	probably null
R7890:Ift172	UTSW	5	31,440,425 (GRCm39)	nonsense	probably null
R7980:Ift172	UTSW	5	31,417,988 (GRCm39)	missense	probably benign
R8263:Ift172	UTSW	5	31,422,681 (GRCm39)	missense	possibly damaging	0.48
R8559:Ift172	UTSW	5	31,413,921 (GRCm39)	missense	probably damaging	0.98
R8717:Ift172	UTSW	5	31,412,985 (GRCm39)	missense	probably benign	0.00
R8774:Ift172	UTSW	5	31,415,207 (GRCm39)	missense	probably benign	0.45
R8774-TAIL:Ift172	UTSW	5	31,415,207 (GRCm39)	missense	probably benign	0.45
R9037:Ift172	UTSW	5	31,420,400 (GRCm39)	missense	possibly damaging	0.56
R9038:Ift172	UTSW	5	31,441,399 (GRCm39)	missense	possibly damaging	0.53
R9133:Ift172	UTSW	5	31,442,867 (GRCm39)	missense	probably benign	0.00
R9607:Ift172	UTSW	5	31,410,913 (GRCm39)	missense
X0022:Ift172	UTSW	5	31,442,664 (GRCm39)	missense	probably damaging	0.97
Z1176:Ift172	UTSW	5	31,434,268 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02