Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Ift172'

455114

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

wim

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31253277-31291116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31276940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 485 (E485K)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

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

AlphaFold

Q6VH22

Predicted Effect

probably benign
Transcript: ENSMUST00000041565
AA Change: E485K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: E485K

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: E14K

SMART Domains

Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564
AA Change: E14K

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

Predicted Effect

unknown
Transcript: ENSMUST00000202589
AA Change: E128K

Meta Mutation Damage Score

0.1290

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,418,368	V156A	probably damaging	Het
Ak6	C	A	13: 100,655,424	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,399,889	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,180,938	I874T	probably damaging	Het
Arid1a	T	C	4: 133,681,076	D2040G	unknown	Het
Atp1a3	T	G	7: 24,997,578	D220A	probably benign	Het
C2cd4c	A	T	10: 79,612,209	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,543,513	Q625*	probably null	Het
Cd177	T	A	7: 24,756,332	H255L	probably benign	Het
Cdipt	G	A	7: 126,978,922	V114M	probably benign	Het
Coro1b	T	A	19: 4,149,385	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,408,686	D158V	unknown	Het
Cts7	A	T	13: 61,355,731	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,195,709	L366*	probably null	Het
Dnah9	C	T	11: 66,085,210	A1338T	probably benign	Het
Dock7	T	C	4: 99,063,962	I424V	probably benign	Het
Dock8	G	T	19: 25,132,126	A891S	probably benign	Het
Elmod3	A	G	6: 72,594,738		probably null	Het
Eps15	G	A	4: 109,361,310	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744		probably null	Het
Fuz	A	G	7: 44,900,318	T407A	probably damaging	Het
Galr1	A	T	18: 82,406,072	F27I	probably benign	Het
Glt1d1	A	G	5: 127,677,280	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,690,521		probably benign	Het
Gm37610	A	G	6: 41,084,914		noncoding transcript	Het
Gm6658	G	T	8: 90,908,392		probably benign	Het
Gm9376	A	G	14: 118,267,377	T74A	possibly damaging	Het
Hadha	G	A	5: 30,144,286	S109F	possibly damaging	Het
Herc3	A	T	6: 58,916,450	Q899L	probably benign	Het
Lrrc8e	A	G	8: 4,235,725	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,763,532	V10D	possibly damaging	Het
Med27	A	G	2: 29,389,811		probably null	Het
Med29	A	T	7: 28,392,497	V56E	probably damaging	Het
Mobp	A	G	9: 120,167,853	K17E	probably damaging	Het
Mrpl37	G	A	4: 107,066,722	T25I	probably benign	Het
Myh1	A	G	11: 67,201,979	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,472,629	I58F	possibly damaging	Het
Olfr589	A	G	7: 103,155,741	I2T	probably benign	Het
Olfr872	A	G	9: 20,260,578	D246G	probably benign	Het
Padi1	T	A	4: 140,826,581	D359V	probably benign	Het
Pcdh7	T	C	5: 57,720,411	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,570,361	K15N	probably damaging	Het
Phip	A	T	9: 82,908,677		probably benign	Het
Pot1a	G	A	6: 25,778,951	T48I	possibly damaging	Het
Ppic	T	C	18: 53,409,261	K125R	probably benign	Het
Ppm1j	T	C	3: 104,785,495	V440A	possibly damaging	Het
Prg4	T	A	1: 150,455,549	K458*	probably null	Het
Rd3	A	T	1: 191,985,300	M244L	probably benign	Het
Rflnb	A	G	11: 76,022,038	Y175H	probably benign	Het
Rnf157	T	A	11: 116,347,074	S574C	probably benign	Het
Sardh	A	G	2: 27,220,641		probably null	Het
Senp3	C	T	11: 69,678,222		probably null	Het
Siglec1	G	A	2: 131,072,847	R1450C	probably damaging	Het
Sim2	A	G	16: 94,123,334	H446R	probably damaging	Het
Spon1	T	C	7: 114,031,786	I444T	probably damaging	Het
Srebf1	T	A	11: 60,203,584	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,537,956	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,609,011	V163I	probably benign	Het
Surf1	G	T	2: 26,916,259		probably benign	Het
Synj2	A	G	17: 6,037,853	E1348G	probably benign	Het
Tc2n	A	T	12: 101,652,852	V349D	probably damaging	Het
Ten1	A	G	11: 116,214,925	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,194,281	D321G	probably damaging	Het
Ttll12	A	T	15: 83,577,036	M594K	probably damaging	Het
Ttn	T	A	2: 76,872,714		probably benign	Het
Usp28	C	T	9: 49,025,985	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,619,023	I822V	probably benign	Het
Wdr60	A	G	12: 116,256,245	S26P	possibly damaging	Het
Zc3hc1	A	T	6: 30,382,683	L88*	probably null	Het
Zfr	T	A	15: 12,160,615	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,171,671	L42R	probably benign	Het

Other mutations in Ift172

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ift172	APN	5	31275896	missense	probably damaging	1.00
IGL01399:Ift172	APN	5	31266248	missense	probably benign
IGL01405:Ift172	APN	5	31261852	nonsense	probably null
IGL01562:Ift172	APN	5	31267247	missense	probably damaging	0.97
IGL01758:Ift172	APN	5	31280714	missense	probably benign
IGL01792:Ift172	APN	5	31276871	missense	probably damaging	1.00
IGL01830:Ift172	APN	5	31285292	missense	probably damaging	1.00
IGL01839:Ift172	APN	5	31266350	missense	probably damaging	1.00
IGL02007:Ift172	APN	5	31286604	missense	probably benign	0.17
IGL02172:Ift172	APN	5	31281337	splice site	probably benign
IGL02190:Ift172	APN	5	31254458	missense	possibly damaging	0.51
IGL02334:Ift172	APN	5	31283058	missense	probably benign	0.00
IGL02486:Ift172	APN	5	31257583	missense	probably damaging	1.00
IGL02517:Ift172	APN	5	31253648	splice site	probably null
IGL02571:Ift172	APN	5	31257891	missense	probably damaging	1.00
IGL02626:Ift172	APN	5	31264496	missense	probably benign
IGL03183:Ift172	APN	5	31272004	missense	probably benign	0.06
IGL03277:Ift172	APN	5	31267298	missense	possibly damaging	0.92
IGL03349:Ift172	APN	5	31284130	missense	probably benign	0.05
ostinato	UTSW	5	31276940	missense	probably benign	0.10
pushback	UTSW	5	31286945	missense	probably damaging	1.00
P0042:Ift172	UTSW	5	31261455	missense	probably benign	0.35
PIT4802001:Ift172	UTSW	5	31285266	missense	probably benign	0.03
R0153:Ift172	UTSW	5	31260624	missense	probably benign
R0328:Ift172	UTSW	5	31263851	nonsense	probably null
R0357:Ift172	UTSW	5	31257900	missense	possibly damaging	0.51
R0369:Ift172	UTSW	5	31253641	missense	probably damaging	1.00
R0391:Ift172	UTSW	5	31286667	missense	probably damaging	1.00
R0512:Ift172	UTSW	5	31285477	missense	possibly damaging	0.92
R0546:Ift172	UTSW	5	31257601	missense	probably benign	0.14
R0553:Ift172	UTSW	5	31275842	splice site	probably benign
R0606:Ift172	UTSW	5	31254313	missense	probably damaging	0.99
R0834:Ift172	UTSW	5	31257371	missense	probably benign
R0973:Ift172	UTSW	5	31265355	missense	probably benign
R0973:Ift172	UTSW	5	31257918	unclassified	probably benign
R1189:Ift172	UTSW	5	31285830	critical splice acceptor site	probably null
R1205:Ift172	UTSW	5	31285792	missense	probably benign
R1289:Ift172	UTSW	5	31280976	missense	probably damaging	0.98
R1342:Ift172	UTSW	5	31261866	missense	probably benign
R1395:Ift172	UTSW	5	31285238	unclassified	probably benign
R1417:Ift172	UTSW	5	31256649	missense	probably damaging	1.00
R2020:Ift172	UTSW	5	31267241	nonsense	probably null
R2111:Ift172	UTSW	5	31286079	missense	probably benign	0.04
R2175:Ift172	UTSW	5	31266685	missense	probably damaging	1.00
R2509:Ift172	UTSW	5	31262968	missense	probably benign
R2870:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2870:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31257861	missense	probably benign	0.00
R3705:Ift172	UTSW	5	31261437	critical splice donor site	probably null
R3793:Ift172	UTSW	5	31257581	missense	possibly damaging	0.61
R4385:Ift172	UTSW	5	31286967	missense	probably damaging	1.00
R4477:Ift172	UTSW	5	31265437	missense	probably benign	0.38
R4590:Ift172	UTSW	5	31253955	missense	probably damaging	1.00
R4663:Ift172	UTSW	5	31284215	missense	probably benign	0.01
R4665:Ift172	UTSW	5	31285254	missense	possibly damaging	0.82
R4977:Ift172	UTSW	5	31272116	missense	possibly damaging	0.79
R5109:Ift172	UTSW	5	31265986	missense	probably benign	0.06
R5182:Ift172	UTSW	5	31267614	missense	possibly damaging	0.51
R5343:Ift172	UTSW	5	31263812	missense	probably benign	0.05
R5465:Ift172	UTSW	5	31261518	splice site	probably null
R5622:Ift172	UTSW	5	31283082	missense	probably damaging	1.00
R5718:Ift172	UTSW	5	31255277	missense	possibly damaging	0.94
R5793:Ift172	UTSW	5	31276948	missense	possibly damaging	0.96
R5919:Ift172	UTSW	5	31260662	missense	possibly damaging	0.63
R5968:Ift172	UTSW	5	31261484	missense	probably damaging	1.00
R6112:Ift172	UTSW	5	31256897	missense	probably benign
R6339:Ift172	UTSW	5	31256583	missense	probably benign	0.00
R6339:Ift172	UTSW	5	31286945	missense	probably damaging	1.00
R6355:Ift172	UTSW	5	31284157	missense	probably benign	0.33
R6565:Ift172	UTSW	5	31275883	missense	possibly damaging	0.68
R6668:Ift172	UTSW	5	31255339	missense	probably benign	0.00
R6755:Ift172	UTSW	5	31260998	nonsense	probably null
R6818:Ift172	UTSW	5	31265960	missense	probably benign	0.01
R6939:Ift172	UTSW	5	31257586	missense	probably damaging	1.00
R6980:Ift172	UTSW	5	31257386	missense	probably benign
R7047:Ift172	UTSW	5	31275894	nonsense	probably null
R7156:Ift172	UTSW	5	31272075	missense	probably damaging	1.00
R7180:Ift172	UTSW	5	31254262	missense	probably damaging	1.00
R7288:Ift172	UTSW	5	31285286	missense	probably damaging	1.00
R7351:Ift172	UTSW	5	31275896	missense	probably damaging	1.00
R7706:Ift172	UTSW	5	31266379	nonsense	probably null
R7890:Ift172	UTSW	5	31283081	nonsense	probably null
R7980:Ift172	UTSW	5	31260644	missense	probably benign
R8263:Ift172	UTSW	5	31265337	missense	possibly damaging	0.48
R8559:Ift172	UTSW	5	31256577	missense	probably damaging	0.98
R8717:Ift172	UTSW	5	31255641	missense	probably benign	0.00
R8774:Ift172	UTSW	5	31257863	missense	probably benign	0.45
R8774-TAIL:Ift172	UTSW	5	31257863	missense	probably benign	0.45
R9037:Ift172	UTSW	5	31263056	missense	possibly damaging	0.56
R9038:Ift172	UTSW	5	31284055	missense	possibly damaging	0.53
R9133:Ift172	UTSW	5	31285523	missense	probably benign	0.00
R9607:Ift172	UTSW	5	31253569	missense
X0022:Ift172	UTSW	5	31285320	missense	probably damaging	0.97
Z1176:Ift172	UTSW	5	31276924	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGTGATAGAATACAGACTGTCC -3'
(R):5'- AGTCCTCACTGATACCCCTG -3'

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

Posted On

2017-02-10