Incidental Mutation 'R6602:Ift88'
| ID |
525384 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6602 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57744716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 745
(S745G)
|
| 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: S745G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: S745G
| 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: ENSMUST00000149702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154492
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
| Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
| Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
| Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
| Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
| Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
| Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
| Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
| Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
| Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
| Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
| Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
| Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly 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 |
|
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'- GTGGTCCTGAGAGACATGTG -3'
(R):5'- CCTGCACTTGATAATCAATGAGC -3'
Sequencing Primer
(F):5'- TCCTGAGAGACATGTGGTAATGC -3'
(R):5'- CACTTGATAATCAATGAGCAGAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation