Incidental Mutation 'R8435:Ift80'
| ID |
653935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift80
|
| Ensembl Gene |
ENSMUSG00000027778 |
| Gene Name |
intraflagellar transport 80 |
| Synonyms |
4921524P20Rik, Wdr56 |
| MMRRC Submission |
067824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R8435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68892787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 134
(S134P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000148031]
[ENSMUST00000154741]
[ENSMUST00000169064]
|
| AlphaFold |
Q8K057 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029347
AA Change: S134P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: S134P
| 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: S134P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: S134P
| 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: ENSMUST00000148031
AA Change: S134P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778
AA Change: S134P
| 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 |
probably damaging
Transcript: ENSMUST00000154741
AA Change: S134P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778
AA Change: S134P
| 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 damaging
Transcript: ENSMUST00000169064
AA Change: S134P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: S134P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
G |
T |
12: 24,146,881 (GRCm39) |
T30K |
possibly damaging |
Het |
| Adam20 |
C |
T |
8: 41,248,072 (GRCm39) |
P61S |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,304,193 (GRCm39) |
S90L |
unknown |
Het |
| Atp13a5 |
C |
T |
16: 29,099,747 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,490,078 (GRCm39) |
Y684H |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,501,682 (GRCm39) |
C20S |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,203,161 (GRCm39) |
I634M |
possibly damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,280 (GRCm39) |
S17P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,321,715 (GRCm39) |
T366A |
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,251,589 (GRCm39) |
V1196I |
probably benign |
Het |
| Ddc |
A |
T |
11: 11,814,902 (GRCm39) |
S188T |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,729,070 (GRCm39) |
C82R |
possibly damaging |
Het |
| Fig4 |
T |
A |
10: 41,161,670 (GRCm39) |
H31L |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,621,752 (GRCm39) |
D366G |
possibly damaging |
Het |
| Lacc1 |
A |
T |
14: 77,272,475 (GRCm39) |
V107D |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,004,316 (GRCm39) |
E51G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,392,199 (GRCm39) |
Y2815H |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,307,998 (GRCm39) |
L481P |
probably damaging |
Het |
| Ltbp4 |
C |
A |
7: 27,034,870 (GRCm39) |
R97L |
unknown |
Het |
| Mbnl1 |
G |
A |
3: 60,437,090 (GRCm39) |
W13* |
probably null |
Het |
| Neb |
T |
A |
2: 52,157,729 (GRCm39) |
T2293S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
G |
1: 150,258,020 (GRCm39) |
K205T |
possibly damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,657 (GRCm39) |
T259S |
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,676 (GRCm39) |
I45V |
probably benign |
Het |
| Or8a1b |
T |
A |
9: 37,622,846 (GRCm39) |
H243L |
probably damaging |
Het |
| Pcmt1 |
G |
A |
10: 7,515,825 (GRCm39) |
P221L |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,648 (GRCm39) |
D14V |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,048 (GRCm39) |
S28P |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,522 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Rpl18a |
C |
T |
8: 71,348,341 (GRCm39) |
G114D |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,995,897 (GRCm39) |
D927G |
possibly damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,798,734 (GRCm39) |
C395Y |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,048,565 (GRCm39) |
T361S |
probably benign |
Het |
| Slc35f5 |
C |
T |
1: 125,488,994 (GRCm39) |
R5* |
probably null |
Het |
| Slc37a4 |
G |
A |
9: 44,310,759 (GRCm39) |
C121Y |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,376 (GRCm39) |
W483* |
probably null |
Het |
| Tex101 |
G |
A |
7: 24,367,791 (GRCm39) |
T187I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,441 (GRCm39) |
L303P |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,647,827 (GRCm39) |
Y329N |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,032,149 (GRCm39) |
S753I |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,546,264 (GRCm39) |
T32383I |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,544 (GRCm39) |
E234G |
probably damaging |
Het |
| Vmn1r120 |
T |
A |
7: 20,787,557 (GRCm39) |
R51S |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,172 (GRCm39) |
T348S |
probably benign |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,714 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zfp236 |
C |
T |
18: 82,658,366 (GRCm39) |
G632D |
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 |
|
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 |
|
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'- CAGGTTTTGAATGTGACCAAAGTC -3'
(R):5'- ACTCCTGAGTTTTCCAAGTTTGAAG -3'
Sequencing Primer
(F):5'- TTCAGGGAATTGAACTCAGGACCTC -3'
(R):5'- CACTTGGAATAAATTGGAACTGAATT -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation