Mutagenetix > Incidental Mutation

Incidental Mutation 'R5793:Ift172'

447066

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

MMRRC Submission

043208-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5793 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31434292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 482 (I482N)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

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

AlphaFold

Q6VH22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041565
AA Change: I482N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: I482N

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

unknown
Transcript: ENSMUST00000202585
AA Change: I11N

SMART Domains

Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564
AA Change: I11N

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

Predicted Effect

unknown
Transcript: ENSMUST00000202589
AA Change: I125N

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	C	A	11: 70,133,879 (GRCm39)	R522L	probably benign	Het
Arfgef1	A	T	1: 10,279,753 (GRCm39)	D271E	probably benign	Het
Arg1	C	T	10: 24,796,540 (GRCm39)	V96M	probably benign	Het
Axin1	T	C	17: 26,362,282 (GRCm39)	S209P	probably damaging	Het
B4galnt3	A	G	6: 120,185,865 (GRCm39)		probably null	Het
Cdh23	T	A	10: 60,141,907 (GRCm39)	D3058V	probably damaging	Het
Chd9	A	G	8: 91,728,384 (GRCm39)	T794A	probably damaging	Het
Ckap5	C	T	2: 91,450,180 (GRCm39)	T1891I	possibly damaging	Het
Cspg4b	G	T	13: 113,457,556 (GRCm39)	V1201L	possibly damaging	Het
Dzank1	T	C	2: 144,348,144 (GRCm39)	I207M	probably benign	Het
Fkbp9	G	A	6: 56,850,498 (GRCm39)		probably null	Het
Gm4781	T	A	10: 100,232,529 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtpbp6	G	A	5: 110,255,094 (GRCm39)	L33F	probably benign	Het
Hsd11b1	A	C	1: 192,924,492 (GRCm39)	F27V	probably damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Ly6g2	T	C	15: 75,093,493 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,653,077 (GRCm39)	Q1420R	probably benign	Het
Ncam2	G	A	16: 81,372,991 (GRCm39)	V569I	possibly damaging	Het
Nsd1	T	C	13: 55,395,819 (GRCm39)	V1140A	probably benign	Het
Ogdhl	T	A	14: 32,054,730 (GRCm39)	L226Q	probably damaging	Het
Or51a24	T	C	7: 103,734,237 (GRCm39)	T17A	probably benign	Het
Orc2	T	C	1: 58,536,547 (GRCm39)	M1V	probably null	Het
Padi2	T	C	4: 140,660,501 (GRCm39)	L327P	probably benign	Het
Palb2	T	C	7: 121,726,860 (GRCm39)	N337D	probably benign	Het
Pard3b	A	T	1: 61,807,132 (GRCm39)	H49L	probably damaging	Het
Pigz	T	C	16: 31,764,285 (GRCm39)	S448P	probably benign	Het
Ppfia4	A	G	1: 134,239,844 (GRCm39)	V911A	probably damaging	Het
Prr5	T	A	15: 84,656,223 (GRCm39)	M408K	probably benign	Het
Qser1	T	C	2: 104,593,205 (GRCm39)	Y1604C	probably damaging	Het
Rpgrip1l	A	G	8: 91,987,400 (GRCm39)	S886P	probably benign	Het
Sdk2	T	C	11: 113,759,778 (GRCm39)	I408V	possibly damaging	Het
Sema7a	A	T	9: 57,867,540 (GRCm39)	R431W	probably damaging	Het
Slc22a30	T	A	19: 8,314,183 (GRCm39)	Y501F	possibly damaging	Het
Slitrk5	T	A	14: 111,917,345 (GRCm39)	V323D	probably damaging	Het
Snap47	C	T	11: 59,329,018 (GRCm39)	E95K	probably damaging	Het
Tbc1d9	A	T	8: 83,998,069 (GRCm39)	I1209F	probably damaging	Het
Tek	T	A	4: 94,708,333 (GRCm39)	M297K	probably benign	Het
Tmem132e	T	A	11: 82,335,684 (GRCm39)	I922N	probably damaging	Het
Tmx2	T	C	2: 84,506,501 (GRCm39)	R64G	probably damaging	Het
Trim68	A	T	7: 102,333,560 (GRCm39)	S41T	possibly damaging	Het
Tsga10	A	T	1: 37,874,540 (GRCm39)	M115K	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r84	C	T	10: 130,221,754 (GRCm39)	C822Y	probably damaging	Het
Wdr72	C	T	9: 74,117,625 (GRCm39)	A779V	probably benign	Het
Zfp580	A	T	7: 5,055,891 (GRCm39)		probably benign	Het
Zfp772	G	A	7: 7,207,283 (GRCm39)	T136I	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
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
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'- GTGGTGATAGAATACAGACTGTCC -3'
(R):5'- TTTGAAGTCCTCACTGATACCC -3'

Sequencing Primer
(F):5'- AGAATACAGACTGTCCTTTGTTCC -3'
(R):5'- CTGATACCCCTGGACTGATGAAATG -3'

Posted On

2016-12-15