Mutagenetix > Incidental Mutation

Incidental Mutation 'R0328:Ift172'

25838

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

MMRRC Submission

038537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 31421195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 968 (E968*)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

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

AlphaFold

Q6VH22

Predicted Effect

probably null
Transcript: ENSMUST00000041565
AA Change: E968*

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: E968*

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: ENSMUST00000201057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201953

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.5%
20x: 90.8%

Validation Efficiency

96% (46/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,574,624 (GRCm39)	H618L	possibly damaging	Het
Aacs	T	C	5: 125,593,323 (GRCm39)	V642A	probably benign	Het
Alms1	A	G	6: 85,587,796 (GRCm39)		probably null	Het
Arhgap39	A	G	15: 76,636,152 (GRCm39)		probably benign	Het
Bard1	C	T	1: 71,085,921 (GRCm39)	V595I	probably benign	Het
Bptf	T	C	11: 106,937,953 (GRCm39)	K2713E	probably damaging	Het
Calhm1	C	T	19: 47,129,742 (GRCm39)	G260D	possibly damaging	Het
Ccdc154	A	C	17: 25,390,779 (GRCm39)	K643T	probably benign	Het
Ccl4	T	A	11: 83,554,383 (GRCm39)	S59T	probably damaging	Het
Cntd1	T	C	11: 101,174,259 (GRCm39)	S73P	probably benign	Het
Colgalt2	A	T	1: 152,348,859 (GRCm39)	D168V	probably damaging	Het
Fam117a	T	C	11: 95,266,452 (GRCm39)		probably benign	Het
Fat1	A	G	8: 45,476,827 (GRCm39)	T1935A	probably benign	Het
Fbxw21	T	A	9: 108,975,653 (GRCm39)	I248F	possibly damaging	Het
Fhod3	A	T	18: 25,246,657 (GRCm39)	M1288L	probably benign	Het
Gm5114	T	G	7: 39,057,885 (GRCm39)	K578T	probably damaging	Het
Gxylt2	A	T	6: 100,727,496 (GRCm39)		probably benign	Het
Helz	G	T	11: 107,495,174 (GRCm39)	A383S	probably benign	Het
Itpripl1	T	C	2: 126,983,924 (GRCm39)	N66S	possibly damaging	Het
Kcnma1	A	G	14: 23,423,265 (GRCm39)	Y686H	probably damaging	Het
Ndrg1	C	A	15: 66,815,008 (GRCm39)		probably benign	Het
Ogdh	T	C	11: 6,297,216 (GRCm39)	V545A	probably benign	Het
Or10al5	A	G	17: 38,063,284 (GRCm39)	I180V	possibly damaging	Het
P3h3	G	A	6: 124,831,269 (GRCm39)		probably benign	Het
Ppme1	A	T	7: 99,983,182 (GRCm39)		probably null	Het
Prkag1	T	G	15: 98,713,563 (GRCm39)	D44A	probably damaging	Het
Prpf39	T	C	12: 65,090,145 (GRCm39)		probably benign	Het
Rabep1	C	A	11: 70,810,033 (GRCm39)	R489S	probably damaging	Het
Scn10a	A	G	9: 119,523,168 (GRCm39)	V75A	possibly damaging	Het
Sema3d	T	C	5: 12,498,042 (GRCm39)	L16P	possibly damaging	Het
Skida1	T	C	2: 18,051,997 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,063,595 (GRCm39)	Y2277C	probably damaging	Het
Syne1	A	G	10: 5,298,945 (GRCm39)	I1047T	possibly damaging	Het
Syt17	A	G	7: 117,981,216 (GRCm39)	Y369H	probably benign	Het
Tmem131l	C	T	3: 83,829,238 (GRCm39)		probably benign	Het
Traf3ip2	A	T	10: 39,510,669 (GRCm39)	D314V	probably damaging	Het
Ttc28	T	G	5: 111,431,933 (GRCm39)		probably benign	Het
Ush1c	A	C	7: 45,874,872 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,602,969 (GRCm39)	Y1884N	possibly damaging	Het
Vmn2r112	T	A	17: 22,824,251 (GRCm39)	I502K	probably benign	Het
Vmn2r60	T	C	7: 41,791,744 (GRCm39)		probably benign	Het
Vmn2r63	T	C	7: 42,552,699 (GRCm39)	I852M	probably benign	Het
Vmn2r9	T	A	5: 108,995,405 (GRCm39)	E414D	probably benign	Het
Wnt4	A	G	4: 137,022,754 (GRCm39)	T106A	probably damaging	Het
Zbtb26	A	T	2: 37,326,807 (GRCm39)	N76K	possibly damaging	Het
Zfhx2	T	C	14: 55,309,445 (GRCm39)	T885A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGGCGAATCATGTCGTCATAC -3'
(R):5'- CTGTCCTTTCCCCTGCATTGAAGAG -3'

Sequencing Primer
(F):5'- ATGTCGTCATACAACTTGTGC -3'
(R):5'- gtgtgtgtgtgtgtgATGTAGC -3'

Posted On

2013-04-16