Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Ift88'

54439

Institutional Source

Beutler Lab

Gene Symbol

Ift88

Ensembl Gene

ENSMUSG00000040040

Gene Name

intraflagellar transport 88

Synonyms

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

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57424062-57517936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57496221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 707 (V707A)

Ref Sequence

ENSEMBL: ENSMUSP00000113768 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000122063
AA Change: V707A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: V707A

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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 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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	Het

Other mutations in Ift88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Ift88	APN	14	57481386	unclassified	probably benign
IGL00886:Ift88	APN	14	57478068	missense	probably damaging	1.00
IGL00901:Ift88	APN	14	57444445	missense	probably damaging	0.99
IGL01148:Ift88	APN	14	57439732	missense	probably benign	0.19
IGL01346:Ift88	APN	14	57444405	missense	probably damaging	1.00
IGL01474:Ift88	APN	14	57478074	missense	probably benign	0.23
IGL02213:Ift88	APN	14	57478045	missense	probably damaging	1.00
IGL02391:Ift88	APN	14	57481414	missense	possibly damaging	0.64
IGL03087:Ift88	APN	14	57477957	missense	probably benign	0.00
R0392:Ift88	UTSW	14	57496160	splice site	probably benign
R0718:Ift88	UTSW	14	57517413	missense	probably benign	0.02
R1128:Ift88	UTSW	14	57517019	nonsense	probably null
R1422:Ift88	UTSW	14	57438301	splice site	probably benign
R1422:Ift88	UTSW	14	57472979	missense	probably damaging	1.00
R1432:Ift88	UTSW	14	57437279	missense	probably benign
R1518:Ift88	UTSW	14	57430628	missense	possibly damaging	0.64
R1566:Ift88	UTSW	14	57441011	missense	probably benign	0.36
R1819:Ift88	UTSW	14	57455519	missense	probably damaging	1.00
R2239:Ift88	UTSW	14	57455504	missense	probably damaging	1.00
R2273:Ift88	UTSW	14	57488936	missense	possibly damaging	0.90
R2926:Ift88	UTSW	14	57488918	missense	probably damaging	1.00
R3033:Ift88	UTSW	14	57478044	missense	probably damaging	1.00
R3052:Ift88	UTSW	14	57430568	missense	probably damaging	1.00
R3815:Ift88	UTSW	14	57440981	missense	possibly damaging	0.88
R4411:Ift88	UTSW	14	57477979	missense	probably damaging	0.99
R4703:Ift88	UTSW	14	57480850	unclassified	probably benign
R4704:Ift88	UTSW	14	57480850	unclassified	probably benign
R4822:Ift88	UTSW	14	57441869	splice site	probably null
R5355:Ift88	UTSW	14	57438242	missense	probably benign	0.34
R5618:Ift88	UTSW	14	57481508	missense	possibly damaging	0.72
R6602:Ift88	UTSW	14	57507259	missense	probably benign	0.00
R6907:Ift88	UTSW	14	57445610	missense	probably benign	0.23
R7241:Ift88	UTSW	14	57479997	missense	probably damaging	0.97
R7243:Ift88	UTSW	14	57430536	critical splice acceptor site	probably null
R7736:Ift88	UTSW	14	57445664	missense	probably benign	0.18
R7766:Ift88	UTSW	14	57447654	missense	possibly damaging	0.65
R8526:Ift88	UTSW	14	57445669	nonsense	probably null
R9018:Ift88	UTSW	14	57438245	missense	probably benign	0.20
R9289:Ift88	UTSW	14	57480742	missense	probably benign
R9340:Ift88	UTSW	14	57481463	missense	probably damaging	1.00
R9369:Ift88	UTSW	14	57447680	missense	probably benign	0.10
R9399:Ift88	UTSW	14	57479928	missense	probably benign	0.00
R9485:Ift88	UTSW	14	57438267	missense	probably benign	0.00
R9712:Ift88	UTSW	14	57481396	missense	probably damaging	1.00
R9759:Ift88	UTSW	14	57434799	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCACCTACAAGGAAGTCCATTCTC -3'
(R):5'- TTCTGATGCAAGCTCCTAGCCCTG -3'

Sequencing Primer
(F):5'- atgtgcctgagtctgctg -3'
(R):5'- GTGCATTTCAGCTACAGCAG -3'

Posted On

2013-07-11