Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Ift122'

288681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115887324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 310 (M310T)

Ref Sequence

ENSEMBL: ENSMUSP00000108547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]

AlphaFold

Q6NWV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038234
AA Change: M310T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: M310T

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
WD40	162	208	2.29e1	SMART
WD40	210	249	1.91e1	SMART
WD40	251	290	3.45e-3	SMART
WD40	448	483	1.43e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112923
AA Change: M369T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: M369T

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
Blast:WD40	163	267	3e-46	BLAST
WD40	269	308	1.91e1	SMART
WD40	310	349	3.45e-3	SMART
WD40	507	542	1.43e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112925
AA Change: M310T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: M310T

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
WD40	162	208	2.29e1	SMART
WD40	210	249	1.91e1	SMART
WD40	251	290	3.45e-3	SMART
WD40	448	483	1.43e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138113

Predicted Effect

probably benign
Transcript: ENSMUST00000141305

SMART Domains

Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
low complexity region	124	134	N/A	INTRINSIC
low complexity region	162	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152092

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [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
Ace	T	G	11: 105,971,344	F241L	possibly damaging	Het
Alx1	A	G	10: 103,022,299	F180L	possibly damaging	Het
Apaf1	T	C	10: 91,059,619	D428G	probably damaging	Het
Arap2	G	T	5: 62,649,682		probably benign	Het
Arnt2	A	G	7: 84,265,624	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,872,931	C362S	probably damaging	Het
Bpifb9a	A	G	2: 154,262,387	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,189,084	L100H	probably damaging	Het
Cdh23	T	C	10: 60,465,543	I451V	probably damaging	Het
Cemip	A	G	7: 83,963,984		probably null	Het
Cep78	T	A	19: 15,974,415	Q342L	probably benign	Het
Clca3b	T	C	3: 144,841,406		probably benign	Het
Cpb2	A	G	14: 75,283,404	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,090,943		probably null	Het
Dbnl	T	C	11: 5,799,997	*433R	probably null	Het
Elovl5	T	C	9: 77,979,899	S191P	possibly damaging	Het
Fbxo42	A	G	4: 141,167,846	E40G	probably benign	Het
Fpgt	T	C	3: 155,087,862	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,913,287		probably null	Het
Grik4	A	T	9: 42,541,988	S700R	probably damaging	Het
Herc4	T	C	10: 63,264,160	S121P	probably benign	Het
Hps4	T	C	5: 112,369,536	V263A	probably benign	Het
Hsd11b1	A	C	1: 193,240,616	L81R	probably damaging	Het
Isg20l2	G	T	3: 87,932,087	V202L	probably damaging	Het
Klf3	A	G	5: 64,829,072	K111E	probably damaging	Het
Kxd1	T	C	8: 70,515,440	T128A	probably benign	Het
Lgals7	A	G	7: 28,865,718	T94A	probably benign	Het
Lrp5	T	C	19: 3,591,816	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,640,459	T1434A	possibly damaging	Het
Mybl2	C	T	2: 163,074,685	R419W	probably damaging	Het
Myo5b	A	T	18: 74,638,040		probably null	Het
Myo7a	A	G	7: 98,053,182	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Ntrk2	T	C	13: 58,846,856		probably null	Het
Olfr935	A	G	9: 38,995,106	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,709,795	V105A	probably benign	Het
Pfkp	A	C	13: 6,597,960	F527V	probably benign	Het
Pilra	C	A	5: 137,835,655	G47*	probably null	Het
Pkdrej	C	A	15: 85,821,327	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,691,000	M36K	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rnf40	T	C	7: 127,589,827	V124A	probably benign	Het
St7l	A	G	3: 104,926,588	T522A	probably damaging	Het
Stox2	G	A	8: 47,191,944	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,114,038	S115P	probably damaging	Het
Trpm1	A	G	7: 64,235,052	D827G	probably benign	Het
Ttll6	T	A	11: 96,135,747	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971	C568F	probably damaging	Het
Usp29	A	T	7: 6,962,156	I333F	probably benign	Het
Vta1	G	A	10: 14,705,394	T23M	probably damaging	Het
Zswim8	A	G	14: 20,723,257	D1771G	probably damaging	Het

Other mutations in Ift122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ift122	APN	6	115917057	missense	probably benign	0.10
IGL00783:Ift122	APN	6	115905902	missense	probably benign
IGL00784:Ift122	APN	6	115905902	missense	probably benign
IGL00799:Ift122	APN	6	115877536	missense	probably damaging	1.00
IGL00908:Ift122	APN	6	115913909	missense	probably benign	0.00
IGL01012:Ift122	APN	6	115899491	missense	probably damaging	0.99
IGL01444:Ift122	APN	6	115884379	missense	probably benign	0.08
IGL01451:Ift122	APN	6	115912604	critical splice donor site	probably null
IGL01940:Ift122	APN	6	115887371	splice site	probably benign
IGL02089:Ift122	APN	6	115925437	missense	probably benign	0.00
IGL02929:Ift122	APN	6	115902877	missense	probably damaging	1.00
IGL03169:Ift122	APN	6	115905961	splice site	probably benign
PIT1430001:Ift122	UTSW	6	115925744	splice site	probably benign
R0158:Ift122	UTSW	6	115924484	splice site	probably benign
R0496:Ift122	UTSW	6	115905902	missense	probably benign
R1065:Ift122	UTSW	6	115875325	splice site	probably null
R1670:Ift122	UTSW	6	115923883	missense	probably benign	0.05
R1861:Ift122	UTSW	6	115891928	missense	probably damaging	1.00
R1889:Ift122	UTSW	6	115894421	critical splice donor site	probably null
R1990:Ift122	UTSW	6	115924367	missense	probably damaging	1.00
R2362:Ift122	UTSW	6	115884350	missense	probably damaging	0.99
R2385:Ift122	UTSW	6	115912522	missense	probably benign	0.21
R3734:Ift122	UTSW	6	115925501	splice site	probably benign
R3800:Ift122	UTSW	6	115925906	missense	probably benign	0.03
R3981:Ift122	UTSW	6	115913921	missense	probably benign	0.02
R4289:Ift122	UTSW	6	115923891	missense	probably damaging	1.00
R4545:Ift122	UTSW	6	115890588	missense	probably damaging	1.00
R4546:Ift122	UTSW	6	115890588	missense	probably damaging	1.00
R4641:Ift122	UTSW	6	115888765	nonsense	probably null
R4815:Ift122	UTSW	6	115881556	missense	possibly damaging	0.95
R4854:Ift122	UTSW	6	115862746	missense	possibly damaging	0.61
R4928:Ift122	UTSW	6	115915858	utr 3 prime	probably benign
R5021:Ift122	UTSW	6	115864372	missense	probably benign	0.41
R5121:Ift122	UTSW	6	115912534	missense	probably benign	0.04
R5200:Ift122	UTSW	6	115920379	missense	probably damaging	0.99
R5549:Ift122	UTSW	6	115892022	missense	probably damaging	1.00
R6111:Ift122	UTSW	6	115875286	missense	probably damaging	1.00
R6141:Ift122	UTSW	6	115916011	missense	probably damaging	0.99
R6766:Ift122	UTSW	6	115926243	missense	probably benign	0.15
R7379:Ift122	UTSW	6	115926302	missense	probably benign
R7402:Ift122	UTSW	6	115894322	missense	probably benign	0.00
R7436:Ift122	UTSW	6	115926302	missense	probably benign
R7437:Ift122	UTSW	6	115926302	missense	probably benign
R7438:Ift122	UTSW	6	115926302	missense	probably benign
R7517:Ift122	UTSW	6	115890582	missense	probably benign	0.37
R7978:Ift122	UTSW	6	115920352	missense	probably benign	0.37
R8492:Ift122	UTSW	6	115887005	missense	probably benign	0.02
R8493:Ift122	UTSW	6	115910331	missense	probably benign	0.01
R8669:Ift122	UTSW	6	115923291	missense	probably damaging	0.98
R8867:Ift122	UTSW	6	115880671	missense	probably damaging	1.00
R8887:Ift122	UTSW	6	115891919	missense	probably benign	0.00
R8947:Ift122	UTSW	6	115924407	missense	probably benign
R8978:Ift122	UTSW	6	115925808	missense	possibly damaging	0.78
R9149:Ift122	UTSW	6	115890531	missense	probably damaging	1.00
R9571:Ift122	UTSW	6	115880667	missense	possibly damaging	0.50
R9573:Ift122	UTSW	6	115880685	missense	probably benign
R9677:Ift122	UTSW	6	115920396	missense	probably benign	0.16
Z1176:Ift122	UTSW	6	115915994	missense	probably damaging	1.00

Posted On

2015-04-16