Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Ift122'

22972

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0158 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 115924484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138535 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000038234

SMART Domains

Protein: ENSMUSP00000045468
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
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 benign
Transcript: ENSMUST00000112923

SMART Domains

Protein: ENSMUSP00000108545
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
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 benign
Transcript: ENSMUST00000112925

SMART Domains

Protein: ENSMUSP00000108547
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
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: ENSMUST00000124283

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: ENSMUST00000155565

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	G	1: 26,683,951	H716P	probably damaging	Het
9530053A07Rik	A	G	7: 28,155,492	I1848V	probably damaging	Het
Abcf3	C	T	16: 20,552,566	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,143,034	P891L	probably damaging	Het
Ampd1	T	A	3: 103,091,730	Y400*	probably null	Het
Ap1g1	T	C	8: 109,855,635	S724P	probably benign	Het
BC067074	T	A	13: 113,369,153	L2272*	probably null	Het
Bst2	T	A	8: 71,537,217	T71S	possibly damaging	Het
C3	A	G	17: 57,224,851		probably null	Het
Cacna2d1	C	A	5: 16,361,817		probably benign	Het
Cacna2d4	C	T	6: 119,236,748	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,464,137	V383G	probably benign	Het
Cd109	A	T	9: 78,688,932	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,276,767	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,219,429	E161G	probably benign	Het
Cggbp1	C	T	16: 64,855,838	S89L	possibly damaging	Het
Crocc	A	T	4: 141,042,242		probably benign	Het
Eef1akmt3	G	A	10: 127,033,273	Q111*	probably null	Het
Exoc7	T	C	11: 116,295,292	N361S	probably benign	Het
Fat2	G	T	11: 55,296,185	S1278R	probably benign	Het
Fbxo42	A	G	4: 141,200,329	N640S	probably benign	Het
Fbxw25	A	G	9: 109,654,652	V164A	possibly damaging	Het
Foxs1	T	C	2: 152,932,410	E241G	probably damaging	Het
Fras1	A	T	5: 96,776,634	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,997,413	V432E	probably benign	Het
Herc1	T	A	9: 66,495,921	L4374*	probably null	Het
Hist1h3b	T	A	13: 23,752,710	C111S	probably damaging	Het
Itgav	C	A	2: 83,792,037	N654K	probably benign	Het
Itih5	T	C	2: 10,234,992		probably benign	Het
Jak2	C	A	19: 29,311,757	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,458,604	C96F	probably benign	Het
Med13l	C	A	5: 118,742,449	S1202Y	unknown	Het
Mefv	T	C	16: 3,715,456	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,152,384	T1226A	probably benign	Het
Nktr	C	T	9: 121,750,691		probably benign	Het
Nudt5	G	A	2: 5,862,303	V61M	probably damaging	Het
Olfr33	C	T	7: 102,713,955	A153T	probably benign	Het
Palm2	A	G	4: 57,709,649	D198G	possibly damaging	Het
Papd5	G	A	8: 88,250,743	G391D	probably damaging	Het
Pcdhb2	A	C	18: 37,297,230	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,556,302	D446G	probably benign	Het
Pnp2	G	A	14: 50,964,304	R249H	probably damaging	Het
Rgs3	A	T	4: 62,623,884	I32F	probably damaging	Het
Rnf139	A	G	15: 58,898,878	T251A	probably benign	Het
Rnf41	A	G	10: 128,438,235	E252G	probably damaging	Het
Rxfp2	T	A	5: 150,051,628	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,217,008	D43G	probably damaging	Het
Sftpc	T	C	14: 70,521,447	K154R	probably null	Het
Simc1	A	G	13: 54,524,717	T293A	probably benign	Het
Skint6	A	T	4: 113,184,814		probably benign	Het
Slc6a15	T	C	10: 103,389,347		probably benign	Het
Ston2	A	T	12: 91,740,602	I78N	probably damaging	Het
Taok3	T	C	5: 117,217,242		probably null	Het
Tiam1	C	T	16: 89,793,001		probably benign	Het
Tnfsf15	T	C	4: 63,729,992	H137R	possibly damaging	Het
Tpte	G	A	8: 22,327,739	R247H	possibly damaging	Het
Trim2	T	C	3: 84,210,169		probably benign	Het
Ulk1	A	T	5: 110,788,944		probably benign	Het
Utp4	T	G	8: 106,913,386	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,219,628	I65F	probably damaging	Het
Vps54	A	T	11: 21,306,962	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,940,319		probably benign	Het
Zbtb38	C	T	9: 96,686,940	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,208,916	Q218*	probably null	Het
Zfp820	G	A	17: 21,819,819	T176I	probably benign	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
IGL02331:Ift122	APN	6	115887324	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGGCAACGTCTGCATCAAC -3'
(R):5'- AAGATGAAGGGGACACTCTCCCTG -3'

Sequencing Primer
(F):5'- CCTCAGATGCAGAATTGCTG -3'
(R):5'- GACACTCTCCCTGTGCCTG -3'

Posted On

2013-04-16