Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Ift88'

356322

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

041952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57661519-57755393 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 57718307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000122063

SMART Domains

Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040

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: ENSMUST00000139943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154492

Predicted Effect

probably benign
Transcript: ENSMUST00000171682

SMART Domains

Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably damaging	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
R1819:Ift88	UTSW	14	57,692,976 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGGAAGATCCCAATCAAGCTATTG -3'
(R):5'- AGGTGATGCAAATCATGGTTG -3'

Sequencing Primer
(F):5'- GAATGGCTGATGCAGTTGATCAGC -3'
(R):5'- CCAGCAACTGTCTGTAATGGGATC -3'

Posted On

2015-10-21