Incidental Mutation 'R9340:Ift88'
| ID |
707473 |
| 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 # |
R9340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57718920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 635
(Q635P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122063]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122063
AA Change: Q635P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: Q635P
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 61,001,647 (GRCm39) |
M58L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,840,939 (GRCm39) |
V1078A |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,492 (GRCm39) |
D175G |
probably damaging |
Het |
| Adad2 |
A |
G |
8: 120,339,769 (GRCm39) |
M84V |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ahsa1 |
T |
C |
12: 87,315,053 (GRCm39) |
S69P |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Antxr2 |
G |
T |
5: 98,086,306 (GRCm39) |
P434T |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,382 (GRCm39) |
Y470H |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,963,372 (GRCm39) |
I907T |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,246,729 (GRCm39) |
Q726L |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,298,462 (GRCm39) |
|
probably benign |
Het |
| Bean1 |
C |
T |
8: 104,908,739 (GRCm39) |
R39C |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,268,686 (GRCm39) |
N256I |
possibly damaging |
Het |
| Cnot10 |
T |
C |
9: 114,460,897 (GRCm39) |
K91R |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,651,757 (GRCm39) |
V1085M |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,534,449 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,093,019 (GRCm39) |
W605R |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,286,297 (GRCm39) |
V110E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,782,136 (GRCm39) |
H563L |
probably damaging |
Het |
| Fosl2 |
A |
G |
5: 32,304,379 (GRCm39) |
T105A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,604 (GRCm39) |
H4779R |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,161 (GRCm39) |
E318K |
probably damaging |
Het |
| Hc |
G |
A |
2: 34,876,294 (GRCm39) |
T1584I |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,928,556 (GRCm39) |
K762E |
probably damaging |
Het |
| Hspg2 |
T |
G |
4: 137,296,827 (GRCm39) |
L4335R |
probably damaging |
Het |
| Inpp5a |
C |
A |
7: 138,969,380 (GRCm39) |
D25E |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,376,786 (GRCm39) |
T387A |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,374,223 (GRCm39) |
D1529N |
probably benign |
Het |
| Lamb1 |
A |
T |
12: 31,374,224 (GRCm39) |
D1529V |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,758,584 (GRCm39) |
N476S |
probably benign |
Het |
| Mup17 |
T |
C |
4: 61,512,633 (GRCm39) |
M87V |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,452,494 (GRCm39) |
T189I |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,447,629 (GRCm39) |
Y462N |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,664,881 (GRCm39) |
D270G |
probably benign |
Het |
| Obox2 |
T |
C |
7: 15,130,789 (GRCm39) |
L7S |
probably damaging |
Het |
| Obox6 |
A |
T |
7: 15,567,722 (GRCm39) |
S242T |
possibly damaging |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Pigyl |
C |
T |
9: 22,069,130 (GRCm39) |
|
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,369,649 (GRCm39) |
V891A |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,458,890 (GRCm39) |
D292G |
possibly damaging |
Het |
| Saal1 |
A |
G |
7: 46,351,248 (GRCm39) |
F243L |
probably benign |
Het |
| Sec24c |
G |
A |
14: 20,729,598 (GRCm39) |
V59M |
probably benign |
Het |
| Sema4f |
C |
A |
6: 82,890,890 (GRCm39) |
G639V |
probably damaging |
Het |
| Serpinb1c |
A |
T |
13: 33,066,172 (GRCm39) |
C258S |
probably benign |
Het |
| Snx21 |
CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG |
CACCTGCAGG |
2: 164,633,849 (GRCm39) |
|
probably benign |
Het |
| Syndig1 |
T |
C |
2: 149,845,175 (GRCm39) |
S233P |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,752,636 (GRCm39) |
L377M |
probably damaging |
Het |
| Tcl1 |
T |
C |
12: 105,184,979 (GRCm39) |
Y77C |
probably damaging |
Het |
| Tekt2 |
C |
A |
4: 126,216,952 (GRCm39) |
M272I |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,100,460 (GRCm39) |
E98G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,182,763 (GRCm39) |
I383N |
unknown |
Het |
| Wdr89 |
G |
T |
12: 75,679,937 (GRCm39) |
P106T |
probably benign |
Het |
| Zfp534 |
T |
C |
4: 147,758,698 (GRCm39) |
E657G |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,013 (GRCm39) |
K434R |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,680 (GRCm39) |
K980* |
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 |
|
|
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 |
|
|
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'- AACCATGATTTGCATCACCTGATTC -3'
(R):5'- CCTCACTGAGGTATGAACAAGG -3'
Sequencing Primer
(F):5'- TCTATGACTCAGAGCAAAAATAACTG -3'
(R):5'- TTCCTATGCAACAGAAAATATAGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation