Incidental Mutation 'R5618:Ift88'
| ID |
439663 |
| 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 |
043277-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5618 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57718965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 650
(I650T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122063]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122063
AA Change: I650T
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: I650T
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
| Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
| Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
| Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
| Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
| Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
| Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
| Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
| Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
| Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
| Fez1 |
A |
T |
9: 36,755,228 (GRCm39) |
N76Y |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
| Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
| Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
| Pramel27 |
A |
T |
4: 143,577,263 (GRCm39) |
E15V |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,566 (GRCm39) |
E439D |
possibly damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
| Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
| Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,199,787 (GRCm39) |
L452F |
probably benign |
Het |
| Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
possibly damaging |
Het |
| Zfp473 |
T |
A |
7: 44,391,156 (GRCm39) |
D6V |
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 |
|
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 |
|
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'- AACCATGATTTGCATCACCTG -3'
(R):5'- CCTCACTGAGGTATGAACAAGG -3'
Sequencing Primer
(F):5'- TCTATGACTCAGAGCAAAAATAACTG -3'
(R):5'- TTCCTATGCAACAGAAAATATAGCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation