Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Ift122'

694888

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 #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115830431-115903660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115867492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 414 (I414N)

Ref Sequence

ENSEMBL: ENSMUSP00000108547 (fasta)

Gene Model

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

AlphaFold

Q6NWV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038234
AA Change: I414N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: I414N

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: I473N

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 damaging
Transcript: ENSMUST00000112925
AA Change: I414N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: I414N

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: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,244,917 (GRCm39)	E187D	possibly damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Heg1	A	G	16: 33,558,961 (GRCm39)	K1085E	probably benign	Het
Hmbs	G	A	9: 44,252,983 (GRCm39)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Kifc3	A	G	8: 95,853,317 (GRCm39)	I13T	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,097,010 (GRCm39)	R445L	probably benign	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	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
R5121:Ift122	UTSW	6	115,889,495 (GRCm39)	missense	probably benign	0.04
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
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'- GAAGAGCCAGCGTTAGATCAC -3'
(R):5'- GAGCATGCTGTGAGTCTGAG -3'

Sequencing Primer
(F):5'- AGCGTTAGATCACCACTGCTG -3'
(R):5'- CTGTCTTTATGAAAGCAAACGCCAG -3'

Posted On

2022-01-20