Incidental Mutation 'R9222:Ift80'
| ID |
699518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift80
|
| Ensembl Gene |
ENSMUSG00000027778 |
| Gene Name |
intraflagellar transport 80 |
| Synonyms |
4921524P20Rik, Wdr56 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R9222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68825894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 482
(I482T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000169064]
|
| AlphaFold |
Q8K057 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029347
AA Change: I482T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: I482T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107812
AA Change: I482T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: I482T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169064
AA Change: I482T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: I482T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
A |
5: 138,560,562 (GRCm39) |
V278F |
unknown |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Actr5 |
T |
A |
2: 158,473,423 (GRCm39) |
N272K |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,567,257 (GRCm39) |
T198A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,903 (GRCm39) |
Y278C |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,783,270 (GRCm39) |
I226V |
|
Het |
| Arap2 |
T |
A |
5: 62,828,421 (GRCm39) |
T917S |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,692 (GRCm39) |
L545P |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,133,472 (GRCm39) |
L438H |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,725,831 (GRCm39) |
Y105N |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,525,610 (GRCm39) |
F1406L |
unknown |
Het |
| Celsr1 |
A |
G |
15: 85,815,471 (GRCm39) |
V1848A |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,443,499 (GRCm39) |
N417I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,579 (GRCm39) |
K1503R |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,317,203 (GRCm39) |
F141L |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,554 (GRCm39) |
V151A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,723,016 (GRCm39) |
H13L |
|
Het |
| Eif2b5 |
C |
T |
16: 20,321,382 (GRCm39) |
R312* |
probably null |
Het |
| Evc |
A |
T |
5: 37,477,650 (GRCm39) |
M343K |
probably benign |
Het |
| Fbxw17 |
T |
A |
13: 50,577,367 (GRCm39) |
D86E |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,856 (GRCm39) |
L202Q |
probably damaging |
Het |
| Fkbp9 |
G |
T |
6: 56,852,677 (GRCm39) |
V466F |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,805,087 (GRCm39) |
R1243Q |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,815,958 (GRCm39) |
T3897I |
probably benign |
Het |
| Fut7 |
T |
C |
2: 25,315,191 (GRCm39) |
S150P |
possibly damaging |
Het |
| Gstm5 |
A |
G |
3: 107,804,634 (GRCm39) |
I73V |
probably benign |
Het |
| Hspb9 |
A |
G |
11: 100,604,769 (GRCm39) |
M32V |
possibly damaging |
Het |
| Khk |
C |
T |
5: 31,079,141 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,747,324 (GRCm39) |
H3333Q |
unknown |
Het |
| Lamc1 |
G |
T |
1: 153,119,087 (GRCm39) |
T844K |
probably damaging |
Het |
| Luc7l2 |
A |
T |
6: 38,542,633 (GRCm39) |
I10L |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,277,055 (GRCm39) |
I23N |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,881,919 (GRCm39) |
V711A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,366 (GRCm39) |
V32A |
probably benign |
Het |
| Oog1 |
A |
G |
12: 87,653,016 (GRCm39) |
D104G |
probably damaging |
Het |
| Or4b13 |
C |
T |
2: 90,082,820 (GRCm39) |
V171M |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,904 (GRCm39) |
D991G |
probably damaging |
Het |
| Pds5a |
G |
A |
5: 65,805,281 (GRCm39) |
H522Y |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
| Plk4 |
T |
A |
3: 40,760,990 (GRCm39) |
V440E |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,577,699 (GRCm39) |
I51V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,106 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rsph6a |
C |
A |
7: 18,801,986 (GRCm39) |
T600N |
possibly damaging |
Het |
| Scn11a |
A |
T |
9: 119,611,013 (GRCm39) |
V946E |
probably damaging |
Het |
| Sec11a |
G |
A |
7: 80,565,634 (GRCm39) |
L170F |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,961,450 (GRCm39) |
I215T |
|
Het |
| Slc1a1 |
A |
G |
19: 28,882,794 (GRCm39) |
I353V |
probably benign |
Het |
| Smox |
A |
G |
2: 131,362,843 (GRCm39) |
E374G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,050,633 (GRCm39) |
T727A |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,904,124 (GRCm39) |
K335N |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,985 (GRCm39) |
S1557T |
probably benign |
Het |
| Tbx19 |
C |
A |
1: 164,966,609 (GRCm39) |
V422L |
probably benign |
Het |
| Tdrd1 |
G |
T |
19: 56,831,679 (GRCm39) |
V357F |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,231 (GRCm39) |
C606R |
probably damaging |
Het |
| Tmcc1 |
C |
G |
6: 116,020,049 (GRCm39) |
G468R |
|
Het |
| Tmem209 |
G |
A |
6: 30,506,838 (GRCm39) |
T93I |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,681 (GRCm39) |
V568A |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,648,922 (GRCm39) |
I43L |
|
Het |
| Tubgcp2 |
T |
C |
7: 139,587,965 (GRCm39) |
D220G |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,992 (GRCm39) |
R219G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,465,463 (GRCm39) |
S431P |
possibly damaging |
Het |
|
| Other mutations in Ift80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Ift80
|
APN |
3 |
68,821,986 (GRCm39) |
nonsense |
probably null |
|
|
IGL01020:Ift80
|
APN |
3 |
68,871,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01544:Ift80
|
APN |
3 |
68,898,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01612:Ift80
|
APN |
3 |
68,870,996 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01743:Ift80
|
APN |
3 |
68,869,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02187:Ift80
|
APN |
3 |
68,892,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Ift80
|
APN |
3 |
68,869,653 (GRCm39) |
splice site |
probably null |
|
|
IGL02407:Ift80
|
APN |
3 |
68,805,869 (GRCm39) |
missense |
probably benign |
|
|
IGL02510:Ift80
|
APN |
3 |
68,805,876 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02512:Ift80
|
APN |
3 |
68,835,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0091:Ift80
|
UTSW |
3 |
68,822,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Ift80
|
UTSW |
3 |
68,847,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0348:Ift80
|
UTSW |
3 |
68,843,232 (GRCm39) |
missense |
probably benign |
|
|
R0357:Ift80
|
UTSW |
3 |
68,821,986 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Ift80
|
UTSW |
3 |
68,822,116 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1419:Ift80
|
UTSW |
3 |
68,847,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Ift80
|
UTSW |
3 |
68,823,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1899:Ift80
|
UTSW |
3 |
68,825,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1926:Ift80
|
UTSW |
3 |
68,823,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Ift80
|
UTSW |
3 |
68,898,117 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3894:Ift80
|
UTSW |
3 |
68,825,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Ift80
|
UTSW |
3 |
68,898,141 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4290:Ift80
|
UTSW |
3 |
68,871,023 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4303:Ift80
|
UTSW |
3 |
68,801,507 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4361:Ift80
|
UTSW |
3 |
68,870,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Ift80
|
UTSW |
3 |
68,857,863 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4596:Ift80
|
UTSW |
3 |
68,898,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Ift80
|
UTSW |
3 |
68,822,273 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4654:Ift80
|
UTSW |
3 |
68,825,870 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4720:Ift80
|
UTSW |
3 |
68,869,623 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4865:Ift80
|
UTSW |
3 |
68,898,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4885:Ift80
|
UTSW |
3 |
68,857,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5357:Ift80
|
UTSW |
3 |
68,898,113 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5561:Ift80
|
UTSW |
3 |
68,875,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5589:Ift80
|
UTSW |
3 |
68,838,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Ift80
|
UTSW |
3 |
68,857,809 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6910:Ift80
|
UTSW |
3 |
68,835,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6962:Ift80
|
UTSW |
3 |
68,901,878 (GRCm39) |
start gained |
probably benign |
|
|
R7157:Ift80
|
UTSW |
3 |
68,898,277 (GRCm39) |
nonsense |
probably null |
|
|
R7452:Ift80
|
UTSW |
3 |
68,901,615 (GRCm39) |
splice site |
probably null |
|
|
R7504:Ift80
|
UTSW |
3 |
68,825,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8077:Ift80
|
UTSW |
3 |
68,823,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8435:Ift80
|
UTSW |
3 |
68,892,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Ift80
|
UTSW |
3 |
68,869,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8831:Ift80
|
UTSW |
3 |
68,869,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8897:Ift80
|
UTSW |
3 |
68,857,809 (GRCm39) |
missense |
probably benign |
|
|
R9328:Ift80
|
UTSW |
3 |
68,847,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAGGTGTTTCAGTGC -3'
(R):5'- TGAATCTGTGTCTCATGGGC -3'
Sequencing Primer
(F):5'- GCTACTGAAATTGAGTGACAAAGTTG -3'
(R):5'- AGGATTTTTCACTGTAGCCCAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation