Incidental Mutation 'R1566:Ift88'
| ID |
175298 |
| 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 |
039605-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57678468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 160
(D160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122063]
[ENSMUST00000150296]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122063
AA Change: D160G
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: D160G
| 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: ENSMUST00000150296
|
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,679,632 (GRCm39) |
I247F |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,888,714 (GRCm39) |
N119S |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,904 (GRCm39) |
D721G |
probably benign |
Het |
| Ap3m2 |
C |
T |
8: 23,293,967 (GRCm39) |
V28M |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,832,620 (GRCm39) |
T32A |
possibly damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,467 (GRCm39) |
R242* |
probably null |
Het |
| Bsn |
G |
A |
9: 108,003,184 (GRCm39) |
T407I |
probably benign |
Het |
| Capn3 |
A |
T |
2: 120,333,474 (GRCm39) |
R627S |
possibly damaging |
Het |
| Car13 |
G |
A |
3: 14,715,758 (GRCm39) |
R92Q |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,268,374 (GRCm39) |
I149T |
possibly damaging |
Het |
| Col1a2 |
G |
T |
6: 4,523,613 (GRCm39) |
G514V |
probably damaging |
Het |
| Ctsw |
C |
A |
19: 5,515,445 (GRCm39) |
C347F |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,001 (GRCm39) |
H112L |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,438,151 (GRCm39) |
V97D |
probably damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,879 (GRCm39) |
E796G |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,863,895 (GRCm39) |
K102R |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,792,166 (GRCm39) |
E618G |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,782,689 (GRCm39) |
D22G |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,761,829 (GRCm39) |
D517G |
possibly damaging |
Het |
| Gsta1 |
A |
T |
9: 78,149,741 (GRCm39) |
K185* |
probably null |
Het |
| Intu |
T |
A |
3: 40,647,008 (GRCm39) |
I627N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,566,974 (GRCm39) |
F101L |
probably damaging |
Het |
| Kars1 |
C |
T |
8: 112,724,290 (GRCm39) |
V475I |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Klra7 |
A |
G |
6: 130,208,564 (GRCm39) |
V6A |
probably damaging |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,626 (GRCm39) |
S114P |
unknown |
Het |
| Ldlrad4 |
T |
C |
18: 68,383,669 (GRCm39) |
S122P |
probably benign |
Het |
| Lig4 |
C |
A |
8: 10,023,650 (GRCm39) |
L43F |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,986,917 (GRCm39) |
D137G |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,968,110 (GRCm39) |
R149C |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,948 (GRCm39) |
H608L |
probably benign |
Het |
| Mrgpra6 |
G |
A |
7: 46,838,652 (GRCm39) |
T182I |
probably benign |
Het |
| Nat8l |
C |
A |
5: 34,158,200 (GRCm39) |
N203K |
probably benign |
Het |
| Nin |
A |
T |
12: 70,101,253 (GRCm39) |
V448E |
probably damaging |
Het |
| Or10a4 |
T |
G |
7: 106,696,759 (GRCm39) |
F29C |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,077 (GRCm39) |
M139L |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,709,903 (GRCm39) |
I227F |
probably damaging |
Het |
| Or8k21 |
G |
A |
2: 86,145,129 (GRCm39) |
T167I |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,978 (GRCm39) |
L759P |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,743,810 (GRCm39) |
N1152K |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,949,785 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,618,839 (GRCm39) |
M497T |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,112 (GRCm39) |
D1138G |
probably damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,499,410 (GRCm39) |
S59R |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,427,697 (GRCm39) |
S457G |
possibly damaging |
Het |
| Rbm25 |
T |
A |
12: 83,721,828 (GRCm39) |
N671K |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,397,980 (GRCm39) |
K47N |
unknown |
Het |
| Ryr1 |
T |
A |
7: 28,791,600 (GRCm39) |
I1435F |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,131,673 (GRCm39) |
H287L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,437,477 (GRCm39) |
L120P |
probably damaging |
Het |
| Slc34a1 |
A |
C |
13: 55,559,844 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,875,245 (GRCm39) |
F19S |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,761,345 (GRCm39) |
V117A |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,012,272 (GRCm39) |
N359K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,443,804 (GRCm39) |
|
probably null |
Het |
| Stx5a |
T |
A |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,414,112 (GRCm39) |
A489V |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,408,520 (GRCm39) |
L253Q |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,660,262 (GRCm39) |
S659P |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,207 (GRCm39) |
Y299C |
probably damaging |
Het |
| Upk1a |
A |
G |
7: 30,309,145 (GRCm39) |
V59A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,432 (GRCm39) |
T868A |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,707,059 (GRCm39) |
H58Y |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,035 (GRCm39) |
S19P |
possibly damaging |
Het |
| Zfp385b |
A |
C |
2: 77,246,257 (GRCm39) |
F257V |
probably benign |
Het |
| Zmym4 |
A |
C |
4: 126,804,940 (GRCm39) |
I188S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGATGGTccagtgtgcctg -3'
(R):5'- CATTGTACTTTCATGGTCTGAGGTCCAA -3'
Sequencing Primer
(F):5'- gcatccgccctctatcac -3'
(R):5'- cacatacaggcaaaacattcatac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation