Incidental Mutation 'R6910:Ift80'
| ID |
538967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift80
|
| Ensembl Gene |
ENSMUSG00000027778 |
| Gene Name |
intraflagellar transport 80 |
| Synonyms |
4921524P20Rik, Wdr56 |
| MMRRC Submission |
045002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R6910 (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 C
at 68835068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 458
(S458A)
|
| 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: S458A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: S458A
| 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: S458A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: S458A
| 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: ENSMUST00000169064
AA Change: S458A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: S458A
| 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 |
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
| Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
| Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
| Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
| Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
| R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
| Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
| Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
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 |
|
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 |
|
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'- TACAAGTCTGGGCAGCAGAC -3'
(R):5'- CTCTGTGGTCCATAAAGCTGAG -3'
Sequencing Primer
(F):5'- ACAGGCCCTATTCCAGAATTTC -3'
(R):5'- GTGGTCCATAAAGCTGAGTAATACC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation