Mutagenetix > Incidental Mutations

Incidental Mutation 'R8493:Ift122'

658116

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115910331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 713 (I713N)

Ref Sequence

ENSEMBL: ENSMUSP00000045468 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000038234
AA Change: I713N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: I713N

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: I772N

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: I713N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: I713N

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,835,589	M1L	unknown	Het
4933402N22Rik	T	C	5: 11,921,522	L147P	probably damaging	Het
Abca13	T	A	11: 9,510,668	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,628,518	E125*	probably null	Het
Apob	A	T	12: 8,009,009	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,386,518	W87*	probably null	Het
Arhgef37	C	T	18: 61,507,206	V261I	probably benign	Het
Arl4a	A	C	12: 40,036,473	C92G	probably benign	Het
Arrdc2	C	T	8: 70,836,857		probably null	Het
Atg16l1	A	C	1: 87,778,982	T355P	probably damaging	Het
Card14	T	G	11: 119,333,609		probably null	Het
Cd109	G	A	9: 78,657,519	V249I	probably benign	Het
Cdhr4	A	G	9: 107,996,254	D395G	probably damaging	Het
Celsr1	C	A	15: 85,938,006	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,779,740	I277T	probably benign	Het
Chst4	A	G	8: 110,030,463	V173A	probably damaging	Het
Clca4b	T	C	3: 144,912,150	N731D	probably benign	Het
Col11a2	A	G	17: 34,059,962	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,114,882	P341A	probably damaging	Het
Dclk3	A	G	9: 111,468,147	E253G	probably benign	Het
Dnah2	T	A	11: 69,452,978	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,472,908	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,285,842		probably benign	Het
Eprs	A	T	1: 185,407,174	K919*	probably null	Het
Esp16	A	T	17: 39,539,930	K67*	probably null	Het
Fam169a	G	T	13: 97,122,859	E474D	probably benign	Het
Fam83h	C	T	15: 76,002,653	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567	I86T	probably damaging	Het
Gm3259	C	T	5: 95,340,233	H9Y	possibly damaging	Het
Gm4070	A	G	7: 105,898,881	S1655P	probably benign	Het
Gm4744	G	A	6: 40,949,347	S103F		Het
Ilkap	A	G	1: 91,378,544	I105T	probably damaging	Het
Isl1	G	T	13: 116,305,299	H133N	possibly damaging	Het
Jade1	T	A	3: 41,604,678	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,850,659	V195M	probably benign	Het
Kif3a	A	T	11: 53,598,800	K669*	probably null	Het
L3mbtl4	G	A	17: 68,630,244	R420H	probably damaging	Het
Mrgprb1	A	T	7: 48,447,573	I197N	probably damaging	Het
Mthfd1	A	G	12: 76,294,155	T263A	probably damaging	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Naxe	A	G	3: 88,058,450		probably benign	Het
Ndufs2	T	C	1: 171,241,108	T51A	probably benign	Het
Nlrc5	T	A	8: 94,523,220	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,472,239	V27A	unknown	Het
Nucks1	A	T	1: 131,929,735	M169L	probably benign	Het
Olfr1115	T	A	2: 87,252,871	D311E	probably benign	Het
Olfr1128	T	A	2: 87,544,770	Y258F	probably damaging	Het
Olfr1253	T	A	2: 89,752,255	Y191F	probably benign	Het
Olfr1295	T	A	2: 111,564,979	H155L	probably damaging	Het
Olfr1342	C	T	4: 118,690,032	S140N	probably benign	Het
Olfr612	A	T	7: 103,538,272	S321T	probably benign	Het
Olfr659	G	T	7: 104,670,815	V38L	probably benign	Het
Pcnt	C	T	10: 76,403,623		probably null	Het
Pdcd7	T	C	9: 65,346,757	S206P	probably benign	Het
Pdia4	A	T	6: 47,796,641	Y591*	probably null	Het
Plxna4	C	T	6: 32,215,712	M771I	probably benign	Het
Ptpn13	A	G	5: 103,564,165	Y1643C	probably damaging	Het
Ptpn13	A	G	5: 103,569,805	I1906V	probably benign	Het
Rab33b	T	A	3: 51,484,374	S15T	probably benign	Het
Rasip1	A	T	7: 45,635,043	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,348,691	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,813,961	Y585*	probably null	Het
Slc40a1	A	T	1: 45,911,416	F292Y	probably damaging	Het
Smarca4	G	A	9: 21,658,848	D716N	probably damaging	Het
Sp7	T	A	15: 102,358,402	H323L	possibly damaging	Het
Sprtn	A	G	8: 124,903,194	S409G	probably benign	Het
St3gal2	T	G	8: 110,962,221	L131R	probably damaging	Het
Tctn1	A	G	5: 122,261,489	C91R	probably damaging	Het
Tgm1	A	T	14: 55,700,297	V785E	probably damaging	Het
Tmem8	G	T	17: 26,121,957	R678L	probably damaging	Het
Topaz1	G	T	9: 122,750,508	V828L	probably benign	Het
Triobp	C	T	15: 78,994,126	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 74,743,052		probably null	Het
Usp2	G	A	9: 44,076,053	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,393,758	D580G	probably benign	Het
Wbp1l	G	A	19: 46,652,549	R106H	possibly damaging	Het
Zmym2	G	T	14: 56,914,149	C497F	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
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
Z1176:Ift122	UTSW	6	115915994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGGAGCTGACGTAATG -3'
(R):5'- TCCCAGAGAACCTAGTCATTTTCATG -3'

Sequencing Primer
(F):5'- AGCTGACGTAATGCTGGCAC -3'
(R):5'- AACCTAGTCATTTTCATGTTTGGTGC -3'

Posted On

2021-01-18