Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Ift122'

576735

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

045514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115830431-115903660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115903263 bp (GRCm39)

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

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Baiap3	A	G	17: 25,468,082 (GRCm39)	C311R	possibly damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Capn8	T	A	1: 182,426,240 (GRCm39)	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fam83h	A	G	15: 75,876,275 (GRCm39)	F354S	possibly damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Hsph1	A	G	5: 149,542,485 (GRCm39)	Y678H	probably damaging	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Ncoa3	T	A	2: 165,910,449 (GRCm39)	F1288L	probably damaging	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	probably damaging	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
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'- GGATGCTCTACCTGTGAACCTC -3'
(R):5'- CCTGGTGCTATTTACAAGGAATG -3'

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

Posted On

2019-10-07