Mutagenetix > Incidental Mutations

Incidental Mutation 'R8978:Ift122'

683560

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8978 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115925808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1117 (M1117K)

Ref Sequence

ENSEMBL: ENSMUSP00000108547 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038234
AA Change: M1118K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: M1118K

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

SMART Domains

Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: M1176K

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

possibly damaging
Transcript: ENSMUST00000112925
AA Change: M1117K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: M1117K

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,281,098	F224L	probably benign	Het
Adam39	A	G	8: 40,825,670	D366G	probably damaging	Het
Adamts14	T	A	10: 61,203,016	E902V	probably damaging	Het
Adamts6	T	C	13: 104,375,739	C490R	probably damaging	Het
Btbd3	T	C	2: 138,284,135	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cdadc1	G	T	14: 59,575,748	N403K	probably damaging	Het
Cdc27	C	T	11: 104,508,385	V734I	possibly damaging	Het
Celf3	A	G	3: 94,485,360	D122G	probably benign	Het
Chgb	T	C	2: 132,792,578	S147P	probably benign	Het
Col9a1	G	A	1: 24,239,315	G808D	probably damaging	Het
Cpne7	A	G	8: 123,134,438		probably null	Het
Crhr1	T	C	11: 104,173,654	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,921,056	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,957,584	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,194,557	R554H	probably benign	Het
Ddx58	A	G	4: 40,239,650	I16T	probably damaging	Het
Dmbt1	T	C	7: 131,037,881	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 49,922,612	L2573P	probably benign	Het
Ebf2	G	A	14: 67,424,099	G559S	probably benign	Het
Fkbp10	A	T	11: 100,423,110	I427F	probably benign	Het
Gipc1	T	C	8: 83,662,417		probably null	Het
Gsdmc3	A	G	15: 63,859,606	L359P	probably damaging	Het
Hspg2	A	G	4: 137,564,030	D3897G	probably benign	Het
Itgbl1	A	T	14: 123,972,205	D456V	probably damaging	Het
Kctd1	G	T	18: 14,986,434	L675I		Het
Kyat3	C	T	3: 142,737,835	T403M	probably benign	Het
Ltbp2	T	C	12: 84,787,390	T1442A	probably benign	Het
Mier2	A	C	10: 79,540,956	S45R	unknown	Het
Mon2	T	A	10: 123,035,564	K383*	probably null	Het
Mroh4	G	T	15: 74,627,624	T136K	probably benign	Het
Mtif3	A	T	5: 146,959,036	S80R	probably benign	Het
Myh2	A	C	11: 67,177,362	E272A	probably damaging	Het
Myh2	A	G	11: 67,189,497	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,108,770	C916Y	probably benign	Het
Olfr1364	T	A	13: 21,574,109	T116S	probably benign	Het
Olfr45	A	T	7: 140,691,729	T275S	probably benign	Het
Olfr836	T	A	9: 19,121,286	C107*	probably null	Het
Orc2	T	C	1: 58,472,340	D370G	possibly damaging	Het
Pcdhga6	T	A	18: 37,707,663	N145K	probably benign	Het
Pih1d2	A	G	9: 50,624,932	M296V	probably benign	Het
Rabl6	G	A	2: 25,587,529	P303L	probably damaging	Het
Rara	T	G	11: 98,971,769	I332S	probably damaging	Het
Reln	A	G	5: 21,885,514	F3449L	possibly damaging	Het
Rhoq	T	C	17: 86,964,339	L61P		Het
Slc6a15	G	A	10: 103,395,092	W226*	probably null	Het
Spef2	A	T	15: 9,725,177	S165T	possibly damaging	Het
Ssfa2	T	A	2: 79,660,913	L1014Q	probably damaging	Het
Stab2	T	C	10: 86,949,918	N620S	possibly damaging	Het
Suds3	A	G	5: 117,094,908		probably null	Het
Sult1b1	A	G	5: 87,535,041	I15T	possibly damaging	Het
Synm	C	A	7: 67,734,924	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,630,578	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886	C4R	possibly damaging	Het
Tk2	A	G	8: 104,231,177	V179A	possibly damaging	Het
Trim25	T	C	11: 89,016,201	V462A	probably benign	Het
Tub	T	C	7: 109,030,186	Y483H	probably damaging	Het
Vav1	A	G	17: 57,296,710	T131A	probably benign	Het
Vav1	A	G	17: 57,324,650	T781A	probably benign	Het
Zbtb34	A	G	2: 33,411,036	S498P	possibly damaging	Het
Zfp568	T	A	7: 30,017,258	H194Q	probably benign	Het
Zfp683	A	T	4: 134,053,928	Q18L	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
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
R9149:Ift122	UTSW	6	115890531	missense	probably damaging	1.00
Z1176:Ift122	UTSW	6	115915994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGTTCTGAGAGCACTCCAG -3'
(R):5'- CCCAGCTTCCCAAAGGAGATAG -3'

Sequencing Primer
(F):5'- GCAGGGAGCATGTTACTGTTAG -3'
(R):5'- CTTCCCAAAGGAGATAGGGAGAATG -3'

Posted On

2021-10-11