Incidental Mutation 'R7157:Ift80'
| ID |
557356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift80
|
| Ensembl Gene |
ENSMUSG00000027778 |
| Gene Name |
intraflagellar transport 80 |
| Synonyms |
4921524P20Rik, Wdr56 |
| MMRRC Submission |
045258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R7157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 68898277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 19
(C19*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000148031]
[ENSMUST00000154741]
[ENSMUST00000169064]
|
| AlphaFold |
Q8K057 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029347
AA Change: C19*
|
| SMART Domains |
Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: C19*
| 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 null
Transcript: ENSMUST00000107812
AA Change: C19*
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: C19*
| 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 null
Transcript: ENSMUST00000148031
AA Change: C19*
|
| SMART Domains |
Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778
AA Change: C19*
| 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 null
Transcript: ENSMUST00000154741
AA Change: C19*
|
| SMART Domains |
Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778
AA Change: C19*
| 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 null
Transcript: ENSMUST00000169064
AA Change: C19*
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: C19*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,276,400 (GRCm39) |
G701D |
probably damaging |
Het |
| 6030468B19Rik |
T |
A |
11: 117,693,780 (GRCm39) |
N82K |
probably damaging |
Het |
| Abca17 |
A |
T |
17: 24,554,564 (GRCm39) |
V130E |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,399,348 (GRCm39) |
K2077* |
probably null |
Het |
| Aox1 |
T |
C |
1: 58,322,651 (GRCm39) |
F73S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,668,542 (GRCm39) |
C965* |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,980,030 (GRCm39) |
V90E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,751,953 (GRCm39) |
H523Q |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,916 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Capn15 |
A |
T |
17: 26,184,228 (GRCm39) |
N150K |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,591 (GRCm39) |
W602R |
probably benign |
Het |
| Clnk |
A |
T |
5: 38,927,234 (GRCm39) |
S82T |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,620,612 (GRCm39) |
I282T |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,779,131 (GRCm39) |
I382T |
probably benign |
Het |
| Dhrs7c |
G |
T |
11: 67,700,722 (GRCm39) |
|
probably null |
Het |
| Dhrs9 |
T |
A |
2: 69,223,502 (GRCm39) |
D83E |
probably damaging |
Het |
| Dmac2l |
A |
T |
12: 69,788,562 (GRCm39) |
N154Y |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,852,043 (GRCm39) |
G624E |
probably damaging |
Het |
| Dnajc30 |
C |
A |
5: 135,093,569 (GRCm39) |
F155L |
probably damaging |
Het |
| Drc7 |
A |
C |
8: 95,800,778 (GRCm39) |
K600T |
probably damaging |
Het |
| Efhb |
A |
C |
17: 53,707,928 (GRCm39) |
I745S |
probably damaging |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Fasn |
T |
A |
11: 120,701,291 (GRCm39) |
K1988* |
probably null |
Het |
| Gad2 |
T |
C |
2: 22,525,035 (GRCm39) |
L273P |
probably damaging |
Het |
| Gm45861 |
A |
T |
8: 28,032,536 (GRCm39) |
K887* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,032,537 (GRCm39) |
K887I |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,718,221 (GRCm39) |
Y152H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,781,061 (GRCm39) |
D237N |
probably damaging |
Het |
| Hamp |
A |
C |
7: 30,641,961 (GRCm39) |
C65G |
possibly damaging |
Het |
| Hes3 |
A |
G |
4: 152,372,581 (GRCm39) |
|
probably benign |
Het |
| Hgh1 |
T |
C |
15: 76,254,650 (GRCm39) |
I342T |
probably damaging |
Het |
| Hlcs |
T |
A |
16: 94,069,023 (GRCm39) |
K66* |
probably null |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,650 (GRCm39) |
C60Y |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,263,804 (GRCm39) |
V696E |
probably benign |
Het |
| Lect2 |
A |
G |
13: 56,690,803 (GRCm39) |
I117T |
unknown |
Het |
| Lipn |
T |
A |
19: 34,054,390 (GRCm39) |
Y209* |
probably null |
Het |
| Lpin3 |
G |
A |
2: 160,740,627 (GRCm39) |
V391I |
probably benign |
Het |
| Mocs2 |
A |
T |
13: 114,961,143 (GRCm39) |
I47L |
probably benign |
Het |
| Mogs |
T |
A |
6: 83,095,488 (GRCm39) |
H768Q |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,276,317 (GRCm39) |
I686N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,299,793 (GRCm39) |
C1376* |
probably null |
Het |
| Ninl |
A |
G |
2: 150,791,263 (GRCm39) |
Y1087H |
possibly damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,475 (GRCm39) |
F113L |
probably benign |
Het |
| Or10ak14 |
A |
G |
4: 118,611,615 (GRCm39) |
V42A |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,689 (GRCm39) |
L214S |
probably damaging |
Het |
| Or51b6b |
A |
C |
7: 103,309,788 (GRCm39) |
L223R |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,616 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,369 (GRCm39) |
C189S |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,398,363 (GRCm39) |
F768S |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,553,957 (GRCm39) |
F82L |
probably damaging |
Het |
| Ppie |
T |
C |
4: 123,028,900 (GRCm39) |
E111G |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,547,679 (GRCm39) |
Y277C |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,102 (GRCm39) |
V30A |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,124,476 (GRCm39) |
S16T |
probably benign |
Het |
| Sf3a3 |
T |
C |
4: 124,616,693 (GRCm39) |
Y192H |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,145,626 (GRCm39) |
V436A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,329 (GRCm39) |
M1112K |
probably damaging |
Het |
| Tnk2 |
G |
A |
16: 32,499,986 (GRCm39) |
G1017E |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,953,947 (GRCm39) |
K603* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,614,724 (GRCm39) |
V16964E |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,696 (GRCm39) |
T482I |
probably benign |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,525 (GRCm39) |
M238K |
probably damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,516 (GRCm39) |
G792S |
probably benign |
Het |
| Xpa |
A |
T |
4: 46,185,612 (GRCm39) |
L122Q |
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 |
|
|
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'- GTGAGGACGAAGCTTTCTGC -3'
(R):5'- CACTTGGCTATCCATTTGGC -3'
Sequencing Primer
(F):5'- ACGAAGCTTTCTGCCTGCG -3'
(R):5'- AGACAGGGTTTCTCTGTGTAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation