Mutagenetix > Incidental Mutations

Incidental Mutation 'R8947:Ift122'

681374

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 #

R8947 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115924407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1050 (A1050D)

Ref Sequence

ENSEMBL: ENSMUSP00000108547 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000038234
AA Change: A1051D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: A1051D

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: A1109D

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
AA Change: A1050D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: A1050D

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: 99.6%
20x: 98.8%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,972,097	S477T	probably benign	Het
4930562C15Rik	T	A	16: 4,847,428	F141L	unknown	Het
A2ml1	G	T	6: 128,552,256	N974K	probably damaging	Het
Abcg8	T	C	17: 84,691,818	L114P	probably damaging	Het
Akt3	A	T	1: 177,131,079	W22R	probably damaging	Het
Ank2	C	T	3: 126,942,747		probably benign	Het
Ap1g1	C	T	8: 109,863,332		probably benign	Het
Arhgef19	T	A	4: 141,246,307	V35E	possibly damaging	Het
Baz2b	T	C	2: 59,948,239	D759G	probably benign	Het
BC051665	C	A	13: 60,782,190	G320W	probably damaging	Het
Bche	T	A	3: 73,701,428	T222S	probably damaging	Het
C8a	T	C	4: 104,822,129	D444G	probably damaging	Het
Cacna1e	A	T	1: 154,402,150	S2019T	probably benign	Het
Carm1	T	C	9: 21,586,453	I373T	probably damaging	Het
Cntn3	A	G	6: 102,437,903	F28L	probably damaging	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Cpb2	T	C	14: 75,278,187	Y352H	probably damaging	Het
Cpeb3	A	T	19: 37,174,966	D3E	probably damaging	Het
Ctsl	T	C	13: 64,367,026	T155A	probably damaging	Het
Cygb	C	T	11: 116,649,819	A114T	probably damaging	Het
Cyp11a1	T	C	9: 58,017,455	V17A	probably benign	Het
Dhcr7	T	G	7: 143,847,222	I374S	probably damaging	Het
Dhx36	T	C	3: 62,472,966	R807G	probably benign	Het
Diaph1	A	T	18: 37,853,701	V1077E	probably damaging	Het
Evpl	A	G	11: 116,221,338	I1842T	probably damaging	Het
Fastk	C	A	5: 24,441,651	C294F	probably damaging	Het
Fndc5	T	C	4: 129,137,136	C20R	probably benign	Het
Gm7298	C	A	6: 121,780,594	Q1053K	possibly damaging	Het
Gm8362	A	G	14: 6,773,326		probably null	Het
Gmps	T	A	3: 63,998,677	I465N	probably damaging	Het
Heatr4	T	G	12: 83,954,657	M904L	probably benign	Het
Hhip	T	A	8: 80,045,156	D175V	probably damaging	Het
Hmcn2	G	A	2: 31,388,208	V1641M	probably damaging	Het
Hoxa5	T	G	6: 52,202,796	T200P	probably damaging	Het
Igf2bp2	C	A	16: 22,078,723	E247*	probably null	Het
Irak1bp1	T	A	9: 82,846,793	L259H	probably damaging	Het
Irgm1	G	A	11: 48,868,748		probably benign	Het
Itpk1	A	T	12: 102,570,323	C355S	probably benign	Het
Kcng4	T	C	8: 119,625,713	E486G	possibly damaging	Het
Kif20b	T	C	19: 34,941,229	V671A	possibly damaging	Het
Kif28	T	G	1: 179,716,755	I345L	possibly damaging	Het
Klri2	C	G	6: 129,733,779		probably null	Het
Kntc1	T	C	5: 123,786,978	V1118A	probably benign	Het
Lpin2	T	A	17: 71,204,876	I34N	probably benign	Het
Lrch3	T	A	16: 32,981,829	V264D	possibly damaging	Het
Lrrk2	C	T	15: 91,702,270	Q430*	probably null	Het
Map10	T	G	8: 125,671,100	S411A	probably benign	Het
Map1a	A	T	2: 121,304,969	I2089F	probably benign	Het
Mypn	T	A	10: 63,169,377	Q317L	probably damaging	Het
Ncan	T	A	8: 70,102,521	I999F	probably damaging	Het
Nmrk2	C	A	10: 81,199,705	R134L	probably damaging	Het
Olfr1290	C	T	2: 111,489,697	V154I	probably benign	Het
Olfr181	T	C	16: 58,926,070	N167S	probably benign	Het
Olfr5	A	G	7: 6,480,247	V303A	probably benign	Het
Olfr583	T	A	7: 103,052,108	V270E	probably damaging	Het
Olfr905	T	A	9: 38,473,389	I214N	probably damaging	Het
Osbpl1a	A	G	18: 12,766,801		probably null	Het
Pcdh1	T	C	18: 38,199,020	D310G	possibly damaging	Het
Pkn2	C	T	3: 142,811,913		probably null	Het
Plch1	T	A	3: 63,784,126	M31L	probably damaging	Het
Polg2	A	G	11: 106,768,344	F448L	probably damaging	Het
Ppp4r3b	A	G	11: 29,200,758	T475A	possibly damaging	Het
Prdm13	C	T	4: 21,678,817	E558K	probably damaging	Het
Prdm9	T	A	17: 15,544,008	I837F	possibly damaging	Het
R3hdm1	T	A	1: 128,174,957	M125K	possibly damaging	Het
Rbm39	A	T	2: 156,148,356	V468E	probably damaging	Het
Rnasel	T	A	1: 153,755,031	V431E	probably damaging	Het
Rps2	T	A	17: 24,721,253	D220E	probably benign	Het
Rsf1	T	C	7: 97,681,852		probably benign	Het
Rsph10b	G	T	5: 143,977,134	A710S	probably benign	Het
Sez6	A	T	11: 77,953,527	T59S	probably damaging	Het
Sf3b1	A	T	1: 55,000,285	V727E	probably damaging	Het
Slit2	T	G	5: 48,249,798	L857R	probably damaging	Het
Sspo	T	G	6: 48,448,570	C42G	probably damaging	Het
Strc	C	T	2: 121,370,989	D1245N	probably benign	Het
Supv3l1	T	A	10: 62,432,339	T576S	probably benign	Het
Tecrl	C	T	5: 83,313,307	R101Q	probably benign	Het
Tmeff2	A	G	1: 51,181,793	Y309C	probably damaging	Het
Tmem43	T	A	6: 91,485,380	W316R	probably damaging	Het
Tmigd3	T	C	3: 105,914,238	V141A	probably benign	Het
Trav9-1	T	C	14: 53,488,127	F8L	probably benign	Het
Trbv5	T	G	6: 41,062,707	F82C	probably damaging	Het
Ubtf	T	C	11: 102,314,976	N41S	possibly damaging	Het
Uggt1	T	C	1: 36,158,148	T1225A	probably benign	Het
Vmn1r72	T	C	7: 11,669,880	R214G	possibly damaging	Het
Vmn2r12	T	G	5: 109,086,656	K563N	possibly damaging	Het
Vmn2r83	T	C	10: 79,469,039	S28P	probably benign	Het
Vwa8	T	G	14: 79,201,112	L1875R	probably damaging	Het
Xrcc6	T	A	15: 82,029,665	V64E	probably damaging	Het
Zfp292	T	C	4: 34,811,835	Y403C	probably damaging	Het
Zfp955a	A	T	17: 33,241,981	H392Q	probably damaging	Het
Zfyve19	T	C	2: 119,210,809	S69P	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
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
R8978:Ift122	UTSW	6	115925808	missense	possibly damaging	0.78
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'- CATAGTGGCTGCTTGGGAAAG -3'
(R):5'- AGATGAAGGGGACACTCTCC -3'

Sequencing Primer
(F):5'- AAGGGGACATGCTCTGGCTG -3'
(R):5'- TCACTATGTGAGGACCTCCCCAG -3'

Posted On

2021-08-31