Incidental Mutation 'R7736:Ift88'
| ID |
596284 |
| 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 |
045792-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57683121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 266
(V266G)
|
| 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: V266G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: V266G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040
AA Change: V38G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,359,123 (GRCm39) |
D561A |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,731,965 (GRCm39) |
F204S |
probably benign |
Het |
| Apoa2 |
T |
C |
1: 171,053,741 (GRCm39) |
L72P |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,030,583 (GRCm39) |
K987* |
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,188,981 (GRCm39) |
D9G |
unknown |
Het |
| Asph |
A |
G |
4: 9,621,930 (GRCm39) |
S192P |
possibly damaging |
Het |
| Bcas1 |
G |
A |
2: 170,229,084 (GRCm39) |
T309M |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Bmp5 |
A |
T |
9: 75,801,072 (GRCm39) |
I401L |
probably damaging |
Het |
| Bpifb9b |
G |
A |
2: 154,154,025 (GRCm39) |
G261R |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,675,252 (GRCm39) |
Y106F |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,103,519 (GRCm39) |
D366V |
probably benign |
Het |
| Ceacam10 |
G |
C |
7: 24,480,636 (GRCm39) |
V256L |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,334,071 (GRCm39) |
Y976H |
probably damaging |
Het |
| Cklf |
A |
G |
8: 104,988,187 (GRCm39) |
T107A |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 36,192,568 (GRCm39) |
W167R |
possibly damaging |
Het |
| Dkk2 |
T |
G |
3: 131,883,775 (GRCm39) |
L225R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,718,625 (GRCm39) |
D1782V |
unknown |
Het |
| Ebag9 |
A |
T |
15: 44,491,800 (GRCm39) |
D64V |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,382 (GRCm39) |
N144D |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
| Foxk2 |
A |
T |
11: 121,190,473 (GRCm39) |
Q538L |
possibly damaging |
Het |
| Fpgt |
T |
G |
3: 154,792,747 (GRCm39) |
I427L |
probably benign |
Het |
| Ganc |
A |
T |
2: 120,264,295 (GRCm39) |
N416I |
possibly damaging |
Het |
| Gata6 |
A |
G |
18: 11,084,379 (GRCm39) |
Y556C |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,589,747 (GRCm39) |
V534E |
probably damaging |
Het |
| Gm7324 |
T |
A |
14: 43,952,256 (GRCm39) |
S300T |
possibly damaging |
Het |
| Gprc6a |
A |
C |
10: 51,491,549 (GRCm39) |
N733K |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,952,740 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ip6k1 |
G |
T |
9: 107,922,891 (GRCm39) |
G341V |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,967,029 (GRCm39) |
A45E |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,107,147 (GRCm39) |
L134Q |
probably damaging |
Het |
| Lats1 |
C |
A |
10: 7,578,128 (GRCm39) |
N417K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,388,285 (GRCm39) |
H2380R |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,460,705 (GRCm39) |
T444A |
probably benign |
Het |
| M1ap |
T |
C |
6: 82,982,565 (GRCm39) |
I283T |
probably benign |
Het |
| Mapre2 |
T |
C |
18: 24,011,012 (GRCm39) |
S207P |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,608 (GRCm39) |
F421L |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,813,192 (GRCm39) |
C33* |
probably null |
Het |
| Or14j4 |
A |
T |
17: 37,921,303 (GRCm39) |
L113H |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,197 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,758 (GRCm39) |
T7A |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,382,394 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,204 (GRCm39) |
Y128H |
probably benign |
Het |
| Phf11 |
C |
T |
14: 59,488,594 (GRCm39) |
D68N |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,261,093 (GRCm39) |
V1027A |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,946,991 (GRCm39) |
V8A |
probably benign |
Het |
| Por |
A |
G |
5: 135,759,976 (GRCm39) |
E221G |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,500 (GRCm39) |
L14* |
probably null |
Het |
| Ptgis |
A |
G |
2: 167,033,891 (GRCm39) |
F459S |
unknown |
Het |
| Ptpru |
T |
C |
4: 131,515,693 (GRCm39) |
E887G |
probably damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,518,206 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
G |
3: 90,296,740 (GRCm39) |
S120P |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,717 (GRCm39) |
Y191N |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Syncrip |
A |
G |
9: 88,343,721 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,897 (GRCm39) |
V169E |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,116,923 (GRCm39) |
G237D |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,117,571 (GRCm39) |
K30E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,847,875 (GRCm39) |
L330Q |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,053,455 (GRCm39) |
F698L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,739,574 (GRCm39) |
Q3701L |
unknown |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,757 (GRCm39) |
R685K |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,059,757 (GRCm39) |
A321E |
unknown |
Het |
| Zdbf2 |
T |
A |
1: 63,347,166 (GRCm39) |
Y1848* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,146,176 (GRCm39) |
N61K |
probably null |
Het |
| Zfp867 |
C |
T |
11: 59,354,016 (GRCm39) |
A438T |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,319 (GRCm39) |
T404I |
probably benign |
Het |
| Zrsr2-ps1 |
C |
T |
11: 22,923,510 (GRCm39) |
Q95* |
probably null |
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 |
|
|
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'- AGCATAAGTCTCATGCACGAGC -3'
(R):5'- TGTGTGCAAACAGACACAGGTG -3'
Sequencing Primer
(F):5'- TTAGTCCCCAGATCCTAGAAAGTGG -3'
(R):5'- GTGAACAGAGCAAAATACCACATCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation