Incidental Mutation 'R4885:Ift80'
ID |
375622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift80
|
Ensembl Gene |
ENSMUSG00000027778 |
Gene Name |
intraflagellar transport 80 |
Synonyms |
4921524P20Rik, Wdr56 |
MMRRC Submission |
042851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R4885 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68857829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 272
(I272T)
|
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: I272T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029347 Gene: ENSMUSG00000027778 AA Change: I272T
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: I272T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103442 Gene: ENSMUSG00000027778 AA Change: I272T
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 |
noncoding transcript
Transcript: ENSMUST00000152502
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169064
AA Change: I272T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133263 Gene: ENSMUSG00000027778 AA Change: I272T
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: ENSMUST00000176754
|
Meta Mutation Damage Score |
0.3992 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
99% (77/78) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,370,425 (GRCm39) |
T317A |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,444,011 (GRCm39) |
M1038L |
probably benign |
Het |
Anapc10 |
C |
T |
8: 80,455,779 (GRCm39) |
T76I |
probably benign |
Het |
Atosa |
T |
C |
9: 74,913,649 (GRCm39) |
L94P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,965,474 (GRCm39) |
S1177N |
probably benign |
Het |
Bsn |
A |
T |
9: 107,984,726 (GRCm39) |
Y337* |
probably null |
Het |
Ccl20 |
T |
A |
1: 83,095,580 (GRCm39) |
V48E |
possibly damaging |
Het |
Ccnl1 |
C |
T |
3: 65,864,320 (GRCm39) |
D122N |
probably damaging |
Het |
Chat |
C |
G |
14: 32,176,567 (GRCm39) |
G69A |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,841,039 (GRCm39) |
I418F |
possibly damaging |
Het |
Dmxl1 |
G |
C |
18: 50,011,862 (GRCm39) |
A1340P |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,937,935 (GRCm39) |
S793N |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,958,290 (GRCm39) |
L632Q |
probably damaging |
Het |
Fabp9 |
T |
C |
3: 10,259,738 (GRCm39) |
K92E |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,432,559 (GRCm39) |
H530R |
probably benign |
Het |
Fancm |
C |
T |
12: 65,149,417 (GRCm39) |
Q728* |
probably null |
Het |
Fgd3 |
G |
A |
13: 49,417,465 (GRCm39) |
T666M |
possibly damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,301 (GRCm39) |
M251V |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,438 (GRCm39) |
M4724L |
probably benign |
Het |
Gemin6 |
G |
A |
17: 80,535,327 (GRCm39) |
E96K |
probably damaging |
Het |
Gfi1 |
C |
A |
5: 107,871,152 (GRCm39) |
V80F |
probably damaging |
Het |
H3c13 |
G |
T |
3: 96,176,277 (GRCm39) |
V90F |
possibly damaging |
Het |
Hectd1 |
A |
G |
12: 51,847,505 (GRCm39) |
V442A |
probably damaging |
Het |
Impact |
C |
G |
18: 13,119,430 (GRCm39) |
A214G |
probably damaging |
Het |
Insl6 |
C |
T |
19: 29,302,556 (GRCm39) |
E54K |
probably benign |
Het |
Irak3 |
T |
A |
10: 120,018,586 (GRCm39) |
D54V |
probably damaging |
Het |
Itk |
C |
T |
11: 46,227,171 (GRCm39) |
|
probably null |
Het |
Ivl |
A |
T |
3: 92,479,718 (GRCm39) |
C116S |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,570,260 (GRCm39) |
A361V |
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,548 (GRCm39) |
P581L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,358,905 (GRCm39) |
E656G |
probably benign |
Het |
Macrod2 |
A |
G |
2: 140,261,985 (GRCm39) |
T89A |
possibly damaging |
Het |
Mettl13 |
T |
C |
1: 162,364,837 (GRCm39) |
D514G |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,590,711 (GRCm39) |
I151F |
possibly damaging |
Het |
Mical3 |
G |
A |
6: 120,912,214 (GRCm39) |
P1882S |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,383,382 (GRCm39) |
E394G |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,488,892 (GRCm39) |
S688T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,176,058 (GRCm39) |
Y1467C |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,118,238 (GRCm39) |
R214Q |
probably damaging |
Het |
Nkx6-3 |
C |
A |
8: 23,643,914 (GRCm39) |
P105Q |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,710 (GRCm39) |
T264A |
possibly damaging |
Het |
Nnat |
G |
A |
2: 157,403,678 (GRCm39) |
C122Y |
probably damaging |
Het |
Notch3 |
G |
A |
17: 32,360,351 (GRCm39) |
R1527C |
probably damaging |
Het |
Or2y16 |
C |
T |
11: 49,335,449 (GRCm39) |
T257I |
probably damaging |
Het |
Or5an1c |
T |
G |
19: 12,218,082 (GRCm39) |
|
probably null |
Het |
Or5h18 |
A |
G |
16: 58,847,518 (GRCm39) |
Y251H |
probably damaging |
Het |
Pds5b |
C |
T |
5: 150,639,927 (GRCm39) |
T14I |
probably benign |
Het |
Phf19 |
A |
T |
2: 34,789,718 (GRCm39) |
I334N |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,365 (GRCm39) |
D118G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,140,712 (GRCm39) |
E3886V |
possibly damaging |
Het |
Pkp1 |
A |
G |
1: 135,846,690 (GRCm39) |
S21P |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,219 (GRCm39) |
L374F |
possibly damaging |
Het |
Rack1 |
C |
A |
11: 48,696,463 (GRCm39) |
A290E |
probably damaging |
Het |
Rbm15 |
A |
G |
3: 107,239,570 (GRCm39) |
V276A |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,076,335 (GRCm39) |
L183* |
probably null |
Het |
Sc5d |
T |
C |
9: 42,166,922 (GRCm39) |
I206V |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,826,737 (GRCm39) |
I233T |
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,257,132 (GRCm39) |
Y529H |
probably damaging |
Het |
Slc1a4 |
A |
C |
11: 20,254,384 (GRCm39) |
V494G |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,230 (GRCm39) |
T17A |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,932,744 (GRCm39) |
S73P |
probably damaging |
Het |
Stk32b |
T |
C |
5: 37,624,141 (GRCm39) |
Y202C |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 40,468,334 (GRCm39) |
S55G |
probably damaging |
Het |
Tcf12 |
C |
T |
9: 71,766,122 (GRCm39) |
G504S |
probably null |
Het |
Ttc3 |
G |
C |
16: 94,227,690 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
C |
16: 94,220,324 (GRCm39) |
I568T |
probably damaging |
Het |
Ttc41 |
T |
G |
10: 86,594,966 (GRCm39) |
N913K |
possibly damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,231 (GRCm39) |
V236M |
probably damaging |
Het |
Wscd1 |
C |
T |
11: 71,650,972 (GRCm39) |
R100C |
probably damaging |
Het |
Zc3h18 |
C |
T |
8: 123,128,445 (GRCm39) |
|
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 |
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 |
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 |
PCR Primer
(F):5'- AGTGCAAAGCAGCAGATTTACTG -3'
(R):5'- GCCATTGACTTCACTGCAAAAC -3'
Sequencing Primer
(F):5'- CAGATTTACTGGACTCTGGAACACG -3'
(R):5'- ACTTCACTGCAAAACATGTAAATTTC -3'
|
Posted On |
2016-03-17 |