Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Ift122'

580552

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115926302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1176 (R1176C)

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: R1177C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: R1177C

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: R1235C

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: R1176C

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

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: R1176C

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,983,221		probably null	Het
2310034C09Rik	A	G	16: 88,759,354	Y152C	probably benign	Het
4921530L21Rik	A	T	14: 95,882,591	K261N	probably benign	Het
5830411N06Rik	A	T	7: 140,261,607	T275S	probably benign	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Akap1	A	G	11: 88,845,528	S103P	probably damaging	Het
Ampd1	T	A	3: 103,074,119		probably null	Het
Apoa1	T	A	9: 46,229,802		probably null	Het
Asb16	A	G	11: 102,272,655	D157G	possibly damaging	Het
Bank1	T	C	3: 136,055,800	N748D	possibly damaging	Het
BC034090	C	A	1: 155,226,381	G46W	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Ccdc73	T	A	2: 104,951,869	V190E	probably damaging	Het
Cyb561a3	A	G	19: 10,582,332	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 27,158,243	D427V	probably damaging	Het
Cyp4f14	T	C	17: 32,909,157	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,257,102	T510A	probably benign	Het
Dennd6a	G	T	14: 26,579,710	E26*	probably null	Het
Dusp10	T	C	1: 184,069,221	I395T	probably damaging	Het
Dzip3	T	A	16: 48,951,989	H439L	probably damaging	Het
Heatr5b	T	A	17: 78,768,533	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,711,796	F278L	probably benign	Het
Hspg2	T	A	4: 137,515,664	M702K	probably damaging	Het
Hydin	T	C	8: 110,583,914	F4081L	probably damaging	Het
Ido1	T	G	8: 24,586,916	T209P	probably benign	Het
Ipo8	T	C	6: 148,789,805	Y689C	probably benign	Het
Macf1	C	T	4: 123,456,643	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,941,554	T1014A	probably benign	Het
Nek5	A	G	8: 22,108,040	F200L	probably damaging	Het
Nipal1	A	G	5: 72,667,641	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159	N80I	probably damaging	Het
Nmur1	G	A	1: 86,386,378	P389S	probably benign	Het
Olfr1037	T	C	2: 86,084,907	Y290C	probably damaging	Het
Olfr59	T	C	11: 74,288,685	L13P	possibly damaging	Het
Olfr975	G	T	9: 39,950,053	C239*	probably null	Het
Patl2	A	C	2: 122,127,525	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,309,275	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,597,750	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,339,729	N35S	probably benign	Het
Pigw	A	T	11: 84,877,963	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,200,701	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,486,796	F436L	probably damaging	Het
Plch2	T	C	4: 154,984,096	T1358A	probably benign	Het
Poll	C	T	19: 45,553,057	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553		probably null	Het
Ppp1r35	G	A	5: 137,780,017	W258*	probably null	Het
Ptpdc1	A	T	13: 48,586,666	F430I	probably benign	Het
Ptprh	T	C	7: 4,552,743	E739G	probably damaging	Het
Ramp2	T	C	11: 101,247,939	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,610,921		probably null	Het
Rbm5	A	G	9: 107,750,394		probably null	Het
Rnf39	A	T	17: 36,943,349	S88C	probably benign	Het
Rpl12	A	G	2: 32,963,824	I155V	probably benign	Het
Senp5	C	T	16: 31,976,029	E596K	unknown	Het
Serpinb9d	A	G	13: 33,195,933	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,416,316	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,226,484		probably null	Het
Spatc1	A	T	15: 76,268,368	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Traf3ip1	A	G	1: 91,511,388	D342G	probably benign	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Utrn	A	C	10: 12,439,791	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,360,877	M168L	probably benign	Het
Vmn1r77	T	A	7: 12,041,767	S157T	probably benign	Het
Zfp977	A	G	7: 42,580,460	S214P	probably benign	Het
Zscan10	T	C	17: 23,610,005	L507P	possibly 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
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'- GGATGCTCTACCTGTGAACC -3'
(R):5'- TCTCCTGGTGCTATTTACAAGG -3'

Sequencing Primer
(F):5'- CTCATTCAGATAAAGAGCCCTCCAGG -3'
(R):5'- TTCTCCCAACAGTCTGG -3'

Posted On

2019-10-07