Incidental Mutation 'R7504:Ift80'
| ID |
581658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift80
|
| Ensembl Gene |
ENSMUSG00000027778 |
| Gene Name |
intraflagellar transport 80 |
| Synonyms |
4921524P20Rik, Wdr56 |
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R7504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68825338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 539
(Y539C)
|
| 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: Y539C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: Y539C
| 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: Y539C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: Y539C
| 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: ENSMUST00000169064
AA Change: Y539C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: Y539C
| 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 |
0.2358 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,645,886 (GRCm39) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,284,470 (GRCm39) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
| Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
| Insc |
G |
T |
7: 114,390,533 (GRCm39) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
| Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
| Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
| Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm39) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,505,311 (GRCm39) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
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 |
|
|
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'- CCTCAACTGAGCTATCATTAAACAG -3'
(R):5'- AACCCAGAATGGCTCTAGGG -3'
Sequencing Primer
(F):5'- CTGAGCTATCATTAAACAGACCTAAG -3'
(R):5'- AATGGCTCTAGGGAGAACATTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation