Incidental Mutation 'IGL01474:Ift88'
ID |
88387 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift88
|
Ensembl Gene |
ENSMUSG00000040040 |
Gene Name |
intraflagellar transport 88 |
Synonyms |
Oak Ridge polycystic kidneys, IFT88, Ttc10, Tg737, Tg737Rpw, fxo, polaris, orpk, TgN737Rpw |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01474
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57715531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 525
(I525F)
|
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: I525F
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113768 Gene: ENSMUSG00000040040 AA Change: I525F
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 |
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
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 |
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 |
R9712:Ift88
|
UTSW |
14 |
57,718,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R9759:Ift88
|
UTSW |
14 |
57,672,256 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-11-18 |