Incidental Mutation 'IGL01544:Ift80'
ID |
90264 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01544
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68898115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 73
(K73N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000148031]
[ENSMUST00000154741]
[ENSMUST00000169064]
|
AlphaFold |
Q8K057 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029347
AA Change: K73N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029347 Gene: ENSMUSG00000027778 AA Change: K73N
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 benign
Transcript: ENSMUST00000107812
AA Change: K73N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103442 Gene: ENSMUSG00000027778 AA Change: K73N
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: ENSMUST00000136448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148031
AA Change: K73N
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000122919 Gene: ENSMUSG00000027778 AA Change: K73N
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
3e-10 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
Blast:WD40
|
136 |
159 |
1e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154741
AA Change: K73N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000118406 Gene: ENSMUSG00000027778 AA Change: K73N
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
9e-10 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
WD40
|
136 |
176 |
2.75e1 |
SMART |
WD40
|
177 |
209 |
2.12e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169064
AA Change: K73N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133263 Gene: ENSMUSG00000027778 AA Change: K73N
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: ENSMUST00000176135
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
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 |
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 |
|
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 |
|
Posted On |
2013-12-03 |