Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4802001:Ift172'

556723

Institutional Source

Beutler Lab

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 #

PIT4802001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31442610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 186 (S186P)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

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

AlphaFold

Q6VH22

Predicted Effect

probably benign
Transcript: ENSMUST00000041565
AA Change: S186P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: S186P

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

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

probably benign
Transcript: ENSMUST00000202589

Coding Region Coverage

1x: 93.6%
3x: 91.0%
10x: 85.4%
20x: 73.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,902,172 (GRCm39)	D741E	probably benign	Het
Abca16	A	G	7: 120,139,351 (GRCm39)	D1461G	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
Akap5	T	C	12: 76,376,706 (GRCm39)	Y713H	probably damaging	Het
AW554918	A	G	18: 25,473,132 (GRCm39)	E312G	possibly damaging	Het
Car4	G	A	11: 84,855,231 (GRCm39)	A157T	probably damaging	Het
Chst9	A	T	18: 15,585,849 (GRCm39)	M238K	probably benign	Het
Ctbp2	G	A	7: 132,589,974 (GRCm39)	H397Y	possibly damaging	Het
Cyp3a59	A	G	5: 146,039,611 (GRCm39)	M295V	probably benign	Het
Daglb	T	C	5: 143,488,803 (GRCm39)	Y586H	probably benign	Het
Ehbp1l1	G	T	19: 5,769,603 (GRCm39)	P567T	possibly damaging	Het
Emilin2	A	G	17: 71,580,464 (GRCm39)	I754T	probably damaging	Het
Esyt2	G	A	12: 116,329,457 (GRCm39)	A672T	probably benign	Het
Evx1	G	T	6: 52,291,175 (GRCm39)	E116*	probably null	Het
Exph5	T	C	9: 53,286,278 (GRCm39)	S1120P	probably damaging	Het
Fam184a	A	T	10: 53,560,450 (GRCm39)	L515*	probably null	Het
Flt4	T	A	11: 49,523,996 (GRCm39)	D525E	probably benign	Het
Galt	T	C	4: 41,756,764 (GRCm39)	W135R	probably damaging	Het
Ifitm6	A	T	7: 140,596,648 (GRCm39)	C42S	probably damaging	Het
Kcnk3	A	G	5: 30,779,712 (GRCm39)	E254G	probably damaging	Het
Kmt2b	A	G	7: 30,278,996 (GRCm39)	S1509P	probably damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Lrba	T	A	3: 86,571,801 (GRCm39)	Y2368*	probably null	Het
Mtmr4	T	A	11: 87,501,953 (GRCm39)	V669E	probably benign	Het
Myh10	C	T	11: 68,655,918 (GRCm39)	R471C	probably damaging	Het
Nav1	G	A	1: 135,380,671 (GRCm39)	T1416I	unknown	Het
Nrip1	A	C	16: 76,090,157 (GRCm39)	S467A	probably damaging	Het
Ntrk1	T	A	3: 87,695,941 (GRCm39)	N190Y	probably damaging	Het
Or14a256	A	T	7: 86,265,763 (GRCm39)	L30Q	probably null	Het
Or5h25	A	C	16: 58,930,964 (GRCm39)	M3R	probably benign	Het
Pdxp	A	G	15: 78,802,611 (GRCm39)	S282G	probably damaging	Het
Phtf2	A	T	5: 21,006,904 (GRCm39)	S220T	probably damaging	Het
Piezo2	A	T	18: 63,157,540 (GRCm39)	V2390E	probably damaging	Het
Pop1	T	G	15: 34,529,229 (GRCm39)	L783R	probably benign	Het
Prf1	G	A	10: 61,135,972 (GRCm39)	A83T	probably benign	Het
Rab4b	A	G	7: 26,875,267 (GRCm39)	V50A	probably benign	Het
Rtn1	T	A	12: 72,351,100 (GRCm39)	T370S	probably benign	Het
Sdr16c5	T	A	4: 4,012,423 (GRCm39)	I123F	probably damaging	Het
Smg6	T	A	11: 75,046,991 (GRCm39)	V1228D	probably damaging	Het
Smim19	A	G	8: 22,963,539 (GRCm39)	V23A	probably benign	Het
Sox13	A	T	1: 133,313,996 (GRCm39)	I346N	probably damaging	Het
Tap1	T	A	17: 34,412,165 (GRCm39)	Y457N	probably damaging	Het
Tbck	C	T	3: 132,458,427 (GRCm39)	P686S	probably damaging	Het
Tcof1	A	G	18: 60,965,010 (GRCm39)	S570P	unknown	Het
Tmc5	A	T	7: 118,271,449 (GRCm39)	M921L	probably benign	Het
Ttc6	A	G	12: 57,772,462 (GRCm39)	Y1594C	possibly damaging	Het
Virma	T	A	4: 11,546,008 (GRCm39)	H1615Q	probably damaging	Het
Vmn1r19	T	A	6: 57,382,037 (GRCm39)	Y197N	probably damaging	Het
Vps13c	T	C	9: 67,845,068 (GRCm39)	F2051L	probably damaging	Het
Wdr6	C	T	9: 108,451,765 (GRCm39)	C706Y	probably damaging	Het
Zfand4	A	G	6: 116,261,736 (GRCm39)	N100D	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGCATCTCTGTGGTGGC -3'
(R):5'- AGAGTCTTACGTGGTAGCACTG -3'

Sequencing Primer
(F):5'- TCTGTGGTGGCATCCAAAC -3'
(R):5'- GTCTTACGTGGTAGCACTGACAAC -3'

Posted On

2019-06-07