Mutagenetix > Incidental Mutation

Incidental Mutation 'R1395:Ift172'

162790

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

MMRRC Submission

039457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 31442582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041565] [ENSMUST00000201809]

AlphaFold

Q6VH22

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

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: ENSMUST00000201809

SMART Domains

Protein: ENSMUSP00000144425
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	3.8e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202410

Predicted Effect

probably benign
Transcript: ENSMUST00000202589

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
A330070K13Rik	A	G	5: 130,407,982 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,822,379 (GRCm39)	R1406G	probably benign	Het
Adgrv1	G	T	13: 81,534,907 (GRCm39)	T5786K	probably benign	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Arhgap11a	C	T	2: 113,663,467 (GRCm39)	V939I	probably benign	Het
Arhgap12	T	C	18: 6,037,058 (GRCm39)	N561S	probably benign	Het
Arhgef12	T	C	9: 42,917,166 (GRCm39)	H391R	probably damaging	Het
Asb3	T	C	11: 31,051,032 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 143,007,464 (GRCm39)		probably benign	Het
Ccdc85a	T	C	11: 28,533,412 (GRCm39)	K44R	possibly damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Col20a1	T	A	2: 180,640,400 (GRCm39)	V519E	probably damaging	Het
Cylc2	A	G	4: 51,228,366 (GRCm39)	K146E	possibly damaging	Het
Drgx	C	T	14: 32,330,326 (GRCm39)	P148S	probably benign	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Eef1a1	C	T	9: 78,386,300 (GRCm39)	V402I	probably benign	Het
Esyt3	T	C	9: 99,198,835 (GRCm39)		probably benign	Het
Extl3	A	G	14: 65,314,945 (GRCm39)	V79A	possibly damaging	Het
Fat3	C	T	9: 16,158,212 (GRCm39)	V1133I	probably benign	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fdxacb1	TAGAC	T	9: 50,683,796 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gm8374	G	T	14: 18,537,058 (GRCm39)	N55K	probably benign	Het
Gria1	T	A	11: 57,174,392 (GRCm39)	I558N	probably damaging	Het
Gse1	G	T	8: 121,301,738 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hectd4	T	C	5: 121,466,576 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,346,463 (GRCm39)	I1943T	probably benign	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Lactb	T	C	9: 66,878,661 (GRCm39)		probably benign	Het
Map1a	C	T	2: 121,134,406 (GRCm39)	H1741Y	probably benign	Het
Map1lc3b	T	C	8: 122,323,459 (GRCm39)	Y110H	probably benign	Het
Mlh1	T	C	9: 111,076,445 (GRCm39)	D304G	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Ncoa4	T	A	14: 31,894,798 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,416,144 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,426,809 (GRCm39)	V1741A	possibly damaging	Het
Nkain2	C	A	10: 32,766,185 (GRCm39)		probably benign	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or51ah3	T	C	7: 103,210,326 (GRCm39)	L214P	possibly damaging	Het
Or51f23	G	A	7: 102,453,414 (GRCm39)	C243Y	possibly damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Ralgapa2	T	G	2: 146,230,420 (GRCm39)	K963N	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Sag	G	A	1: 87,756,163 (GRCm39)	V257I	probably benign	Het
Scaf1	T	C	7: 44,657,721 (GRCm39)	E386G	probably damaging	Het
Slc4a10	A	G	2: 62,143,630 (GRCm39)	E1055G	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Tgm2	T	A	2: 157,966,172 (GRCm39)	H494L	probably benign	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ugt3a1	T	G	15: 9,306,378 (GRCm39)	L176V	possibly damaging	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Wdr87-ps	T	A	7: 29,230,812 (GRCm39)		noncoding transcript	Het
Zfp322a	C	T	13: 23,540,945 (GRCm39)	V266I	probably benign	Het
Zfp663	T	C	2: 165,194,492 (GRCm39)	R576G	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
IGL03277:Ift172	APN	5	31,424,642 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCTCTGTGGTGGCATCCAAAC -3'
(R):5'- GTCTTTGGACTGGCAGAAGGCAAG -3'

Sequencing Primer
(F):5'- GTGGCATCCAAACGCTTC -3'
(R):5'- TCTTACGTGGTAGCACTGACAAC -3'

Posted On

2014-03-17