Incidental Mutation 'R0212:Ift80'
ID |
33521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift80
|
Ensembl Gene |
ENSMUSG00000027778 |
Gene Name |
intraflagellar transport 80 |
Synonyms |
4921524P20Rik, Wdr56 |
MMRRC Submission |
038463-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R0212 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 68847506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 330
(L330H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000169064]
|
AlphaFold |
Q8K057 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029347
AA Change: L330H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029347 Gene: ENSMUSG00000027778 AA Change: L330H
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: L330H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103442 Gene: ENSMUSG00000027778 AA Change: L330H
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 benign
Transcript: ENSMUST00000169064
AA Change: L330H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133263 Gene: ENSMUSG00000027778 AA Change: L330H
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 36,006,254 (GRCm39) |
|
probably null |
Het |
Adat1 |
T |
A |
8: 112,713,840 (GRCm39) |
D113V |
possibly damaging |
Het |
Arhgap40 |
T |
G |
2: 158,392,495 (GRCm39) |
L656V |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,296,584 (GRCm39) |
I330T |
probably damaging |
Het |
Cad |
A |
G |
5: 31,235,454 (GRCm39) |
D2137G |
probably damaging |
Het |
Cd8a |
G |
A |
6: 71,350,633 (GRCm39) |
E33K |
probably benign |
Het |
Cemip |
C |
A |
7: 83,622,398 (GRCm39) |
G594C |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,894,767 (GRCm39) |
D31V |
probably damaging |
Het |
Cmpk1 |
A |
T |
4: 114,822,216 (GRCm39) |
M111K |
possibly damaging |
Het |
Crispld2 |
T |
G |
8: 120,737,370 (GRCm39) |
H40Q |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,069,586 (GRCm39) |
T441A |
probably benign |
Het |
Dpm1 |
T |
C |
2: 168,069,414 (GRCm39) |
N5S |
probably benign |
Het |
Ercc4 |
A |
G |
16: 12,941,196 (GRCm39) |
|
probably null |
Het |
Fam83f |
A |
T |
15: 80,574,779 (GRCm39) |
M229L |
probably benign |
Het |
Fgd5 |
A |
T |
6: 91,965,189 (GRCm39) |
D474V |
probably damaging |
Het |
Fgf21 |
G |
T |
7: 45,263,526 (GRCm39) |
P184Q |
probably benign |
Het |
Fry |
A |
T |
5: 150,419,862 (GRCm39) |
D1008V |
probably damaging |
Het |
Gjd2 |
T |
C |
2: 113,841,953 (GRCm39) |
T175A |
probably benign |
Het |
Gphn |
C |
T |
12: 78,684,326 (GRCm39) |
T577I |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,563,964 (GRCm39) |
N18K |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,797,972 (GRCm39) |
R149G |
possibly damaging |
Het |
Inpp4b |
A |
T |
8: 82,497,546 (GRCm39) |
H122L |
probably benign |
Het |
Inpp5e |
T |
C |
2: 26,298,352 (GRCm39) |
|
probably null |
Het |
Ism1 |
T |
C |
2: 139,582,177 (GRCm39) |
L163S |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,653,251 (GRCm39) |
V375E |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,308,293 (GRCm39) |
F306V |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,675,736 (GRCm39) |
I403F |
possibly damaging |
Het |
Klf12 |
A |
T |
14: 100,260,298 (GRCm39) |
S144T |
probably benign |
Het |
Lyst |
C |
T |
13: 13,810,570 (GRCm39) |
H747Y |
possibly damaging |
Het |
Mccc2 |
A |
G |
13: 100,091,163 (GRCm39) |
Y445H |
probably benign |
Het |
Mei1 |
G |
A |
15: 81,980,132 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
A |
10: 93,697,242 (GRCm39) |
K479N |
probably damaging |
Het |
Mief2 |
A |
T |
11: 60,621,493 (GRCm39) |
D62V |
probably damaging |
Het |
Mtrf1 |
A |
G |
14: 79,656,719 (GRCm39) |
D407G |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,296,659 (GRCm39) |
R210G |
probably damaging |
Het |
Nkx2-2 |
T |
C |
2: 147,026,090 (GRCm39) |
H216R |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,048,277 (GRCm39) |
E694G |
possibly damaging |
Het |
Nptn |
A |
T |
9: 58,535,164 (GRCm39) |
Y103F |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,670,186 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
C |
7: 26,980,184 (GRCm39) |
S389P |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,236 (GRCm39) |
V277A |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,887,644 (GRCm39) |
V274E |
possibly damaging |
Het |
Or1q1 |
A |
T |
2: 36,887,335 (GRCm39) |
D171V |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5d16 |
A |
G |
2: 87,773,435 (GRCm39) |
F179S |
probably damaging |
Het |
Or5i1 |
C |
T |
2: 87,613,826 (GRCm39) |
P314L |
unknown |
Het |
Or8g20 |
C |
A |
9: 39,396,384 (GRCm39) |
S55I |
probably damaging |
Het |
Osm |
T |
G |
11: 4,188,465 (GRCm39) |
S31A |
probably benign |
Het |
Paqr4 |
T |
C |
17: 23,957,294 (GRCm39) |
M70V |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,302,064 (GRCm39) |
Y1607N |
probably benign |
Het |
Plec |
A |
C |
15: 76,075,505 (GRCm39) |
Y402* |
probably null |
Het |
Polq |
A |
G |
16: 36,887,216 (GRCm39) |
K1631E |
probably damaging |
Het |
Pou6f1 |
A |
G |
15: 100,478,696 (GRCm39) |
V129A |
possibly damaging |
Het |
Prm2 |
A |
G |
16: 10,609,463 (GRCm39) |
|
probably benign |
Het |
Prtn3 |
A |
G |
10: 79,716,971 (GRCm39) |
Y112C |
probably damaging |
Het |
Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,428 (GRCm39) |
|
probably null |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Slc10a1 |
A |
C |
12: 81,014,486 (GRCm39) |
L78R |
possibly damaging |
Het |
Slc26a5 |
A |
T |
5: 22,028,547 (GRCm39) |
Y340* |
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,796,970 (GRCm39) |
|
probably null |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,820,575 (GRCm39) |
S1226T |
probably benign |
Het |
Togaram2 |
C |
T |
17: 72,031,978 (GRCm39) |
L866F |
probably damaging |
Het |
Txndc17 |
A |
G |
11: 72,098,558 (GRCm39) |
T37A |
probably benign |
Het |
Vmn2r105 |
C |
A |
17: 20,428,827 (GRCm39) |
V750F |
possibly damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,366,424 (GRCm39) |
Y170F |
probably benign |
Het |
Wrnip1 |
T |
C |
13: 33,005,889 (GRCm39) |
V577A |
probably benign |
Het |
Zc3h7b |
A |
G |
15: 81,660,529 (GRCm39) |
T226A |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,422 (GRCm39) |
I538T |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,764,736 (GRCm39) |
E1401G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTGGACTTTGACTTACGACTC -3'
(R):5'- CGCTTGGCTTGGCATGAAGATG -3'
Sequencing Primer
(F):5'- AGTCTTCCCTCCTATGTAAGGAAAC -3'
(R):5'- GAGCACATTGAATTTTTCCTGCA -3'
|
Posted On |
2013-05-09 |