Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Ift88'

204736

Institutional Source

Beutler Lab

Gene Symbol

Ift88

Ensembl Gene

ENSMUSG00000040040

Gene Name

intraflagellar transport 88

Synonyms

Oak Ridge polycystic kidneys, IFT88, Ttc10, Tg737, Tg737Rpw, fxo, polaris, orpk, TgN737Rpw

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57661519-57755393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57692976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 392 (E392K)

Ref Sequence

ENSEMBL: ENSMUSP00000113768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122063]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000122063
AA Change: E392K

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

SMART Domains

Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: E392K

Domain	Start	End	E-Value	Type
Blast:TPR	197	229	8e-12	BLAST
TPR	233	266	5.35e-5	SMART
TPR	272	305	5.78e-1	SMART
TPR	485	518	5.73e-5	SMART
TPR	519	552	9.83e-4	SMART
TPR	553	586	5.19e-3	SMART
TPR	587	620	3.87e-2	SMART
Blast:TPR	621	654	7e-12	BLAST
TPR	655	688	3.76e0	SMART
low complexity region	730	748	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154492

Predicted Effect

unknown
Transcript: ENSMUST00000171682
AA Change: E164K

SMART Domains

Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040
AA Change: E164K

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	164	2.7e-8	PFAM
Pfam:TPR_11	3	76	8.7e-11	PFAM
Pfam:TPR_12	3	77	3.8e-11	PFAM
Pfam:TPR_8	6	37	7e-4	PFAM
Pfam:TPR_2	7	38	1.8e-6	PFAM
Pfam:TPR_1	7	39	3.4e-9	PFAM
Pfam:TPR_7	8	41	1.9e-7	PFAM
Pfam:TPR_8	45	78	2.2e-3	PFAM

Meta Mutation Damage Score

0.2164

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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 tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Ift88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Ift88	APN	14	57,718,843 (GRCm39)	unclassified	probably benign
IGL00886:Ift88	APN	14	57,715,525 (GRCm39)	missense	probably damaging	1.00
IGL00901:Ift88	APN	14	57,681,902 (GRCm39)	missense	probably damaging	0.99
IGL01148:Ift88	APN	14	57,677,189 (GRCm39)	missense	probably benign	0.19
IGL01346:Ift88	APN	14	57,681,862 (GRCm39)	missense	probably damaging	1.00
IGL01474:Ift88	APN	14	57,715,531 (GRCm39)	missense	probably benign	0.23
IGL02213:Ift88	APN	14	57,715,502 (GRCm39)	missense	probably damaging	1.00
IGL02391:Ift88	APN	14	57,718,871 (GRCm39)	missense	possibly damaging	0.64
IGL03087:Ift88	APN	14	57,715,414 (GRCm39)	missense	probably benign	0.00
R0392:Ift88	UTSW	14	57,733,617 (GRCm39)	splice site	probably benign
R0608:Ift88	UTSW	14	57,733,678 (GRCm39)	missense	probably benign
R0718:Ift88	UTSW	14	57,754,870 (GRCm39)	missense	probably benign	0.02
R1128:Ift88	UTSW	14	57,754,476 (GRCm39)	nonsense	probably null
R1422:Ift88	UTSW	14	57,710,436 (GRCm39)	missense	probably damaging	1.00
R1422:Ift88	UTSW	14	57,675,758 (GRCm39)	splice site	probably benign
R1432:Ift88	UTSW	14	57,674,736 (GRCm39)	missense	probably benign
R1518:Ift88	UTSW	14	57,668,085 (GRCm39)	missense	possibly damaging	0.64
R1566:Ift88	UTSW	14	57,678,468 (GRCm39)	missense	probably benign	0.36
R2239:Ift88	UTSW	14	57,692,961 (GRCm39)	missense	probably damaging	1.00
R2273:Ift88	UTSW	14	57,726,393 (GRCm39)	missense	possibly damaging	0.90
R2926:Ift88	UTSW	14	57,726,375 (GRCm39)	missense	probably damaging	1.00
R3033:Ift88	UTSW	14	57,715,501 (GRCm39)	missense	probably damaging	1.00
R3052:Ift88	UTSW	14	57,668,025 (GRCm39)	missense	probably damaging	1.00
R3815:Ift88	UTSW	14	57,678,438 (GRCm39)	missense	possibly damaging	0.88
R4411:Ift88	UTSW	14	57,715,436 (GRCm39)	missense	probably damaging	0.99
R4703:Ift88	UTSW	14	57,718,307 (GRCm39)	unclassified	probably benign
R4704:Ift88	UTSW	14	57,718,307 (GRCm39)	unclassified	probably benign
R4822:Ift88	UTSW	14	57,679,326 (GRCm39)	splice site	probably null
R5355:Ift88	UTSW	14	57,675,699 (GRCm39)	missense	probably benign	0.34
R5618:Ift88	UTSW	14	57,718,965 (GRCm39)	missense	possibly damaging	0.72
R6602:Ift88	UTSW	14	57,744,716 (GRCm39)	missense	probably benign	0.00
R6907:Ift88	UTSW	14	57,683,067 (GRCm39)	missense	probably benign	0.23
R7241:Ift88	UTSW	14	57,717,454 (GRCm39)	missense	probably damaging	0.97
R7243:Ift88	UTSW	14	57,667,993 (GRCm39)	critical splice acceptor site	probably null
R7736:Ift88	UTSW	14	57,683,121 (GRCm39)	missense	probably benign	0.18
R7766:Ift88	UTSW	14	57,685,111 (GRCm39)	missense	possibly damaging	0.65
R8526:Ift88	UTSW	14	57,683,126 (GRCm39)	nonsense	probably null
R9018:Ift88	UTSW	14	57,675,702 (GRCm39)	missense	probably benign	0.20
R9289:Ift88	UTSW	14	57,718,199 (GRCm39)	missense	probably benign
R9340:Ift88	UTSW	14	57,718,920 (GRCm39)	missense	probably damaging	1.00
R9369:Ift88	UTSW	14	57,685,137 (GRCm39)	missense	probably benign	0.10
R9399:Ift88	UTSW	14	57,717,385 (GRCm39)	missense	probably benign	0.00
R9485:Ift88	UTSW	14	57,675,724 (GRCm39)	missense	probably benign	0.00
R9712:Ift88	UTSW	14	57,718,853 (GRCm39)	missense	probably damaging	1.00
R9759:Ift88	UTSW	14	57,672,256 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTACTACGCTTCTGTGCTGTG -3'
(R):5'- GCTCTTGAATCAAAGACAGGAG -3'

Sequencing Primer
(F):5'- ACGCTTCTGTGCTGTGTTAGTTTTC -3'
(R):5'- TTCAAGAGTTTAAAAGAAAGCTAGGG -3'

Posted On

2014-06-23