Incidental Mutation 'IGL01525:Ift70b'
ID |
89524 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift70b
|
Ensembl Gene |
ENSMUSG00000075273 |
Gene Name |
intraflagellar transport 70B |
Synonyms |
2510042P03Rik, Ttc30b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01525
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75766193-75768806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75767226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 509
(M509K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099996]
|
AlphaFold |
Q9CY00 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099996
AA Change: M509K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097576 Gene: ENSMUSG00000075273 AA Change: M509K
Domain | Start | End | E-Value | Type |
TPR
|
45 |
78 |
1.1e-1 |
SMART |
TPR
|
153 |
186 |
3.89e1 |
SMART |
TPR
|
187 |
220 |
6.24e1 |
SMART |
TPR
|
423 |
456 |
7.49e1 |
SMART |
Blast:TPR
|
457 |
491 |
3e-10 |
BLAST |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
Aldh8a1 |
A |
T |
10: 21,267,472 (GRCm39) |
I286F |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
Dgcr8 |
T |
C |
16: 18,101,808 (GRCm39) |
D158G |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
Gtpbp3 |
A |
G |
8: 71,943,078 (GRCm39) |
D164G |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
Lrrc59 |
A |
T |
11: 94,525,522 (GRCm39) |
Q106L |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
Thumpd3 |
T |
C |
6: 113,024,597 (GRCm39) |
S64P |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
Other mutations in Ift70b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02565:Ift70b
|
APN |
2 |
75,768,247 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02891:Ift70b
|
APN |
2 |
75,767,404 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0383:Ift70b
|
UTSW |
2 |
75,768,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Ift70b
|
UTSW |
2 |
75,767,055 (GRCm39) |
missense |
probably damaging |
0.98 |
R1470:Ift70b
|
UTSW |
2 |
75,768,155 (GRCm39) |
missense |
probably benign |
|
R1470:Ift70b
|
UTSW |
2 |
75,768,155 (GRCm39) |
missense |
probably benign |
|
R1656:Ift70b
|
UTSW |
2 |
75,767,760 (GRCm39) |
missense |
probably benign |
0.26 |
R1951:Ift70b
|
UTSW |
2 |
75,767,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Ift70b
|
UTSW |
2 |
75,767,443 (GRCm39) |
missense |
probably benign |
0.06 |
R1994:Ift70b
|
UTSW |
2 |
75,768,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Ift70b
|
UTSW |
2 |
75,767,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R4968:Ift70b
|
UTSW |
2 |
75,768,391 (GRCm39) |
missense |
probably benign |
0.00 |
R6110:Ift70b
|
UTSW |
2 |
75,768,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Ift70b
|
UTSW |
2 |
75,767,448 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7154:Ift70b
|
UTSW |
2 |
75,768,405 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7182:Ift70b
|
UTSW |
2 |
75,768,293 (GRCm39) |
nonsense |
probably null |
|
R7269:Ift70b
|
UTSW |
2 |
75,767,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Ift70b
|
UTSW |
2 |
75,766,963 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8089:Ift70b
|
UTSW |
2 |
75,767,647 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9035:Ift70b
|
UTSW |
2 |
75,767,596 (GRCm39) |
missense |
probably benign |
0.06 |
R9420:Ift70b
|
UTSW |
2 |
75,768,391 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9621:Ift70b
|
UTSW |
2 |
75,768,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R9745:Ift70b
|
UTSW |
2 |
75,768,261 (GRCm39) |
missense |
probably benign |
0.25 |
R9765:Ift70b
|
UTSW |
2 |
75,768,467 (GRCm39) |
nonsense |
probably null |
|
Z1088:Ift70b
|
UTSW |
2 |
75,768,326 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-12-03 |