Incidental Mutation 'R3894:Ift80'
ID |
310435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift80
|
Ensembl Gene |
ENSMUSG00000027778 |
Gene Name |
intraflagellar transport 80 |
Synonyms |
4921524P20Rik, Wdr56 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R3894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68825332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 541
(D541G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000169064]
|
AlphaFold |
Q8K057 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029347
AA Change: D541G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029347 Gene: ENSMUSG00000027778 AA Change: D541G
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 |
probably damaging
Transcript: ENSMUST00000107812
AA Change: D541G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103442 Gene: ENSMUSG00000027778 AA Change: D541G
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 |
noncoding transcript
Transcript: ENSMUST00000136176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152502
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169064
AA Change: D541G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133263 Gene: ENSMUSG00000027778 AA Change: D541G
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 |
noncoding transcript
Transcript: ENSMUST00000176189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217619
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,898,690 (GRCm39) |
E688G |
possibly damaging |
Het |
Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,482,510 (GRCm39) |
S268T |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
Slc26a3 |
A |
C |
12: 31,514,719 (GRCm39) |
Y513S |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,477,449 (GRCm39) |
T317A |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,941,442 (GRCm39) |
D79V |
probably 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 |
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 |
|
R9222:Ift80
|
UTSW |
3 |
68,825,894 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9328:Ift80
|
UTSW |
3 |
68,847,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2015-04-17 |