Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Ift122'

677398

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8887 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

115830431-115903660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115868880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 456 (T456S)

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: T456S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: T456S

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: T515S

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: T456S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: T456S

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bnc2	A	C	4: 84,209,707 (GRCm39)		probably benign	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,258,894 (GRCm39)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,503 (GRCm39)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Padi3	A	T	4: 140,523,795 (GRCm39)	C228*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Uba6	A	G	5: 86,307,061 (GRCm39)		probably null	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	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
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
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'- TGGACTCTTAAGGATGGTTACCC -3'
(R):5'- TGGGAGACTCAAGACTGCTC -3'

Sequencing Primer
(F):5'- TCTGCACACAGCTTCTGGAG -3'
(R):5'- AAGACTGCTCCCTGTTCTGAGG -3'

Posted On

2021-08-02