Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Ift88'

730277

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9712 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

57661519-57755393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57718853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 613 (S613P)

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: S613P

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

SMART Domains

Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: S613P

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,765,784 (GRCm39)	M20L	probably benign	Het
Aadacl4fm1	C	T	4: 144,255,354 (GRCm39)	A258V	probably benign	Het
Abca8b	T	A	11: 109,833,163 (GRCm39)	D1241V	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Adcy10	T	C	1: 165,340,681 (GRCm39)	F229L	probably damaging	Het
Adsl	A	T	15: 80,839,840 (GRCm39)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Ahnak	AGATCTC	A	19: 8,984,392 (GRCm39)		probably benign	Het
Aktip	G	A	8: 91,856,355 (GRCm39)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,811,318 (GRCm39)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,197,734 (GRCm39)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,331,034 (GRCm39)	L583F	probably damaging	Het
Arhgef40	T	C	14: 52,226,415 (GRCm39)	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,498,757 (GRCm39)	S179G	probably benign	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,441 (GRCm39)	E754G	probably benign	Het
Cers3	A	G	7: 66,423,378 (GRCm39)	K108E	probably benign	Het
Cmya5	T	C	13: 93,201,881 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,367,148 (GRCm39)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,323,180 (GRCm39)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,784,895 (GRCm39)	I514F	probably damaging	Het
Cux1	C	T	5: 136,338,673 (GRCm39)	E664K	probably benign	Het
Dars1	T	C	1: 128,333,199 (GRCm39)	Q75R	probably benign	Het
Disp1	T	A	1: 182,917,379 (GRCm39)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Ep400	T	A	5: 110,904,509 (GRCm39)	H30L	unknown	Het
Ephx4	A	G	5: 107,567,647 (GRCm39)	I202V	probably benign	Het
Exoc3	A	T	13: 74,341,027 (GRCm39)	F259Y	probably damaging	Het
Ezr	T	C	17: 7,020,394 (GRCm39)	E229G	probably damaging	Het
Fat1	A	T	8: 45,470,417 (GRCm39)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm39)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,798,216 (GRCm39)	M759K	probably benign	Het
Gm9922	C	T	14: 101,966,893 (GRCm39)	A120T	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,276,696 (GRCm39)	S465G	unknown	Het
Ifi204	T	C	1: 173,576,924 (GRCm39)	Y559C	probably damaging	Het
Kif21a	G	C	15: 90,869,528 (GRCm39)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,879,715 (GRCm39)	T191K	probably benign	Het
Lrit1	T	A	14: 36,782,084 (GRCm39)	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837 (GRCm39)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,524,735 (GRCm39)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,631,521 (GRCm39)	V807G	probably benign	Het
Nsd1	T	C	13: 55,393,856 (GRCm39)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,952,550 (GRCm39)	N80K	probably damaging	Het
Oprk1	T	A	1: 5,669,096 (GRCm39)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,360,212 (GRCm39)	N89K	probably damaging	Het
Or5w12	A	T	2: 87,502,105 (GRCm39)	I202N	probably benign	Het
Or8k53	G	A	2: 86,177,583 (GRCm39)	H176Y	probably benign	Het
Pdcd11	A	G	19: 47,117,741 (GRCm39)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm39)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,729,128 (GRCm39)	D1419V	possibly damaging	Het
Per1	G	T	11: 68,991,475 (GRCm39)	G3V	probably benign	Het
Pex16	C	A	2: 92,206,988 (GRCm39)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,595,340 (GRCm39)	L862F	probably benign	Het
Pld5	T	A	1: 175,791,572 (GRCm39)	D478V	probably benign	Het
Pms2	T	C	5: 143,851,614 (GRCm39)	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,326,758 (GRCm39)	E119D	probably benign	Het
Ppp2r1a	A	C	17: 21,179,058 (GRCm39)	E295A	probably damaging	Het
Qrfprl	A	G	6: 65,433,124 (GRCm39)	I315V	probably benign	Het
Rad51ap2	A	T	12: 11,507,593 (GRCm39)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,615,536 (GRCm39)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 92,136,092 (GRCm39)	V6M		Het
Rwdd1	A	T	10: 33,877,152 (GRCm39)	D197E		Het
Scn11a	A	T	9: 119,619,076 (GRCm39)	C755*	probably null	Het
Skil	T	C	3: 31,171,009 (GRCm39)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,186,817 (GRCm39)	C939R	probably damaging	Het
Slc25a36	A	G	9: 96,961,230 (GRCm39)	S269P	probably benign	Het
Srrm4	T	A	5: 116,620,452 (GRCm39)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tbc1d4	A	T	14: 101,744,846 (GRCm39)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,424,313 (GRCm39)	N593D	probably damaging	Het
Trex1	C	A	9: 108,887,805 (GRCm39)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,692,716 (GRCm39)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,771,211 (GRCm39)	Y439*	probably null	Het
Ttn	G	A	2: 76,564,592 (GRCm39)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,815,571 (GRCm39)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,033,881 (GRCm39)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,481,960 (GRCm39)	D95V	probably benign	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		Het
Zfp1002	C	T	2: 150,096,496 (GRCm39)	R311Q	probably benign	Het
Zfp28	T	C	7: 6,396,878 (GRCm39)	C438R	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
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
R9759:Ift88	UTSW	14	57,672,256 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCATGATTTGCATCACCTG -3'
(R):5'- ACTCTATTAGGCTTACCAGACAC -3'

Sequencing Primer
(F):5'- TCTATGACTCAGAGCAAAAATAACTG -3'
(R):5'- GGCTTACCAGACACTAATTTTTAGGG -3'

Posted On

2022-10-06