Incidental Mutation 'R9399:Ift88'
| ID |
711020 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9399 (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 A
at 57717385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 536
(D536E)
|
| 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: D536E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: D536E
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,384,615 (GRCm39) |
L450R |
probably damaging |
Het |
| 4933427I04Rik |
T |
A |
4: 123,754,413 (GRCm39) |
L109* |
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,606,531 (GRCm39) |
L576P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,179 (GRCm39) |
N1891S |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,763,455 (GRCm39) |
H1563L |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,664,588 (GRCm39) |
T732A |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,780,713 (GRCm39) |
I312T |
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,113,289 (GRCm39) |
M1055I |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,791 (GRCm39) |
N180D |
possibly damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,021 (GRCm39) |
T356S |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 23,173,899 (GRCm39) |
T38P |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,840,988 (GRCm39) |
P308Q |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,468,592 (GRCm39) |
A1715V |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,367,842 (GRCm39) |
V590D |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,916,584 (GRCm39) |
G364R |
unknown |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Fgfr4 |
C |
T |
13: 55,304,293 (GRCm39) |
T111M |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,739 (GRCm39) |
T190S |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,542,079 (GRCm39) |
I274N |
probably damaging |
Het |
| Gpsm2 |
G |
A |
3: 108,590,090 (GRCm39) |
R499* |
probably null |
Het |
| Gzme |
T |
A |
14: 56,355,796 (GRCm39) |
D172V |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,643,335 (GRCm39) |
T151A |
probably benign |
Het |
| Kctd7 |
T |
C |
5: 130,177,033 (GRCm39) |
Y95H |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,097,227 (GRCm39) |
C239S |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,640,283 (GRCm39) |
S38P |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,946,082 (GRCm39) |
R1015C |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,992,210 (GRCm39) |
R421* |
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,671,686 (GRCm39) |
K79* |
probably null |
Het |
| Or8b39 |
A |
G |
9: 37,997,020 (GRCm39) |
H296R |
probably benign |
Het |
| Or8k16 |
G |
C |
2: 85,520,395 (GRCm39) |
L207F |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,282,744 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,755,010 (GRCm39) |
V79A |
probably damaging |
Het |
| Prkd3 |
G |
T |
17: 79,264,719 (GRCm39) |
P633H |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,591,794 (GRCm39) |
S294C |
probably damaging |
Het |
| Raph1 |
T |
A |
1: 60,565,154 (GRCm39) |
Q111L |
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,797,725 (GRCm39) |
N634I |
possibly damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,265,486 (GRCm39) |
V1102G |
probably benign |
Het |
| Sh2b1 |
AGCTCAGCC |
AGCTCAGCCCCGGGGACCCGCTCAGCC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GG |
GGCACCAGCTCAGCCCCGCG |
7: 126,066,762 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc25a23 |
C |
A |
17: 57,360,930 (GRCm39) |
G165C |
probably damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,940,175 (GRCm39) |
T512S |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,041,658 (GRCm39) |
D585E |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,858,856 (GRCm39) |
T372A |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,214,768 (GRCm39) |
Y250* |
probably null |
Het |
| Vmn2r92 |
T |
A |
17: 18,389,137 (GRCm39) |
S484T |
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 |
|
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 |
|
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'- CTGCTAGGAGAAATCTCACCTCC -3'
(R):5'- TCCTACAGGAGTCAGAGTTAATACG -3'
Sequencing Primer
(F):5'- GGAGAAATCTCACCTCCTCTTG -3'
(R):5'- CAGAGCTATGTTTACTCAAAATGTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation