Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Ift88'

730277

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9712 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

57424062-57517936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57481396 bp (GRCm38)

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: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	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
R0608:Ift88	UTSW	14	57496221	missense	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
R9759:Ift88	UTSW	14	57434799	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