Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Ift122'

393013

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115830431-115903660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115889495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 827 (T827A)

Ref Sequence

ENSEMBL: ENSMUSP00000108545 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000038234
AA Change: T768A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: T768A

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
AA Change: T827A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: T827A

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: T768A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: T768A

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	probably benign	Het

Other mutations in Ift122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ift122	APN	6	115,894,018 (GRCm39)	missense	probably benign	0.10
IGL00783:Ift122	APN	6	115,882,863 (GRCm39)	missense	probably benign
IGL00784:Ift122	APN	6	115,882,863 (GRCm39)	missense	probably benign
IGL00799:Ift122	APN	6	115,854,497 (GRCm39)	missense	probably damaging	1.00
IGL00908:Ift122	APN	6	115,890,870 (GRCm39)	missense	probably benign	0.00
IGL01012:Ift122	APN	6	115,876,452 (GRCm39)	missense	probably damaging	0.99
IGL01444:Ift122	APN	6	115,861,340 (GRCm39)	missense	probably benign	0.08
IGL01451:Ift122	APN	6	115,889,565 (GRCm39)	critical splice donor site	probably null
IGL01940:Ift122	APN	6	115,864,332 (GRCm39)	splice site	probably benign
IGL02089:Ift122	APN	6	115,902,398 (GRCm39)	missense	probably benign	0.00
IGL02331:Ift122	APN	6	115,864,285 (GRCm39)	missense	probably damaging	1.00
IGL02929:Ift122	APN	6	115,879,838 (GRCm39)	missense	probably damaging	1.00
IGL03169:Ift122	APN	6	115,882,922 (GRCm39)	splice site	probably benign
PIT1430001:Ift122	UTSW	6	115,902,705 (GRCm39)	splice site	probably benign
R0158:Ift122	UTSW	6	115,901,445 (GRCm39)	splice site	probably benign
R0496:Ift122	UTSW	6	115,882,863 (GRCm39)	missense	probably benign
R1065:Ift122	UTSW	6	115,852,286 (GRCm39)	splice site	probably null
R1670:Ift122	UTSW	6	115,900,844 (GRCm39)	missense	probably benign	0.05
R1861:Ift122	UTSW	6	115,868,889 (GRCm39)	missense	probably damaging	1.00
R1889:Ift122	UTSW	6	115,871,382 (GRCm39)	critical splice donor site	probably null
R1990:Ift122	UTSW	6	115,901,328 (GRCm39)	missense	probably damaging	1.00
R2362:Ift122	UTSW	6	115,861,311 (GRCm39)	missense	probably damaging	0.99
R2385:Ift122	UTSW	6	115,889,483 (GRCm39)	missense	probably benign	0.21
R3734:Ift122	UTSW	6	115,902,462 (GRCm39)	splice site	probably benign
R3800:Ift122	UTSW	6	115,902,867 (GRCm39)	missense	probably benign	0.03
R3981:Ift122	UTSW	6	115,890,882 (GRCm39)	missense	probably benign	0.02
R4289:Ift122	UTSW	6	115,900,852 (GRCm39)	missense	probably damaging	1.00
R4545:Ift122	UTSW	6	115,867,549 (GRCm39)	missense	probably damaging	1.00
R4546:Ift122	UTSW	6	115,867,549 (GRCm39)	missense	probably damaging	1.00
R4641:Ift122	UTSW	6	115,865,726 (GRCm39)	nonsense	probably null
R4815:Ift122	UTSW	6	115,858,517 (GRCm39)	missense	possibly damaging	0.95
R4854:Ift122	UTSW	6	115,839,707 (GRCm39)	missense	possibly damaging	0.61
R4928:Ift122	UTSW	6	115,892,819 (GRCm39)	utr 3 prime	probably benign
R5021:Ift122	UTSW	6	115,841,333 (GRCm39)	missense	probably benign	0.41
R5200:Ift122	UTSW	6	115,897,340 (GRCm39)	missense	probably damaging	0.99
R5549:Ift122	UTSW	6	115,868,983 (GRCm39)	missense	probably damaging	1.00
R6111:Ift122	UTSW	6	115,852,247 (GRCm39)	missense	probably damaging	1.00
R6141:Ift122	UTSW	6	115,892,972 (GRCm39)	missense	probably damaging	0.99
R6766:Ift122	UTSW	6	115,903,204 (GRCm39)	missense	probably benign	0.15
R7379:Ift122	UTSW	6	115,903,263 (GRCm39)	missense	probably benign
R7402:Ift122	UTSW	6	115,871,283 (GRCm39)	missense	probably benign	0.00
R7436:Ift122	UTSW	6	115,903,263 (GRCm39)	missense	probably benign
R7437:Ift122	UTSW	6	115,903,263 (GRCm39)	missense	probably benign
R7438:Ift122	UTSW	6	115,903,263 (GRCm39)	missense	probably benign
R7517:Ift122	UTSW	6	115,867,543 (GRCm39)	missense	probably benign	0.37
R7978:Ift122	UTSW	6	115,897,313 (GRCm39)	missense	probably benign	0.37
R8492:Ift122	UTSW	6	115,863,966 (GRCm39)	missense	probably benign	0.02
R8493:Ift122	UTSW	6	115,887,292 (GRCm39)	missense	probably benign	0.01
R8669:Ift122	UTSW	6	115,900,252 (GRCm39)	missense	probably damaging	0.98
R8867:Ift122	UTSW	6	115,857,632 (GRCm39)	missense	probably damaging	1.00
R8887:Ift122	UTSW	6	115,868,880 (GRCm39)	missense	probably benign	0.00
R8947:Ift122	UTSW	6	115,901,368 (GRCm39)	missense	probably benign
R8978:Ift122	UTSW	6	115,902,769 (GRCm39)	missense	possibly damaging	0.78
R9149:Ift122	UTSW	6	115,867,492 (GRCm39)	missense	probably damaging	1.00
R9571:Ift122	UTSW	6	115,857,628 (GRCm39)	missense	possibly damaging	0.50
R9573:Ift122	UTSW	6	115,857,646 (GRCm39)	missense	probably benign
R9677:Ift122	UTSW	6	115,897,357 (GRCm39)	missense	probably benign	0.16
Z1176:Ift122	UTSW	6	115,892,955 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATATCTGCCTGTGAAGCC -3'
(R):5'- CTCTAGGATATTCTGGCTCAGAG -3'

Sequencing Primer
(F):5'- TTCCCAGGGGCCATAGCATATTAG -3'
(R):5'- TCAGAGACTTTGAGGCAATGACCTC -3'

Posted On

2016-06-15