Incidental Mutation 'IGL01690:Ift70a1'
ID |
104064 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift70a1
|
Ensembl Gene |
ENSMUSG00000075271 |
Gene Name |
intraflagellar transport 70A1 |
Synonyms |
Ttc30a1, 4930506L13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
IGL01690
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75810277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 602
(V602A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097574
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
AlphaFold |
Q99J38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099994
AA Change: V602A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097574 Gene: ENSMUSG00000075271 AA Change: V602A
Domain | Start | End | E-Value | Type |
TPR
|
45 |
78 |
1.1e-1 |
SMART |
TPR
|
153 |
186 |
2.19e1 |
SMART |
TPR
|
187 |
220 |
6.24e1 |
SMART |
coiled coil region
|
380 |
411 |
N/A |
INTRINSIC |
TPR
|
423 |
456 |
2.24e1 |
SMART |
Blast:TPR
|
457 |
491 |
1e-10 |
BLAST |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099995
|
SMART Domains |
Protein: ENSMUSP00000097575 Gene: ENSMUSG00000075272
Domain | Start | End | E-Value | Type |
TPR
|
45 |
78 |
1.1e-1 |
SMART |
TPR
|
153 |
186 |
2.77e1 |
SMART |
Blast:TPR
|
187 |
224 |
1e-13 |
BLAST |
coiled coil region
|
380 |
405 |
N/A |
INTRINSIC |
TPR
|
423 |
456 |
2.24e1 |
SMART |
Blast:TPR
|
457 |
491 |
1e-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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429P17Rik |
A |
G |
13: 48,114,446 (GRCm39) |
|
noncoding transcript |
Het |
Agap2 |
T |
C |
10: 126,918,827 (GRCm39) |
|
probably benign |
Het |
Bicra |
G |
A |
7: 15,721,678 (GRCm39) |
T613I |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,284,277 (GRCm39) |
S150P |
possibly damaging |
Het |
Cfap107 |
G |
A |
4: 144,165,098 (GRCm39) |
T26M |
probably damaging |
Het |
F830045P16Rik |
T |
G |
2: 129,314,614 (GRCm39) |
Q221P |
probably damaging |
Het |
Fam135b |
T |
A |
15: 71,328,784 (GRCm39) |
M1172L |
probably benign |
Het |
Fbxo2 |
G |
T |
4: 148,249,581 (GRCm39) |
|
probably null |
Het |
Frem1 |
C |
T |
4: 82,877,533 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
C |
T |
5: 131,114,734 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,833,771 (GRCm39) |
I170T |
probably damaging |
Het |
Gm2399 |
C |
T |
13: 12,717,417 (GRCm39) |
|
noncoding transcript |
Het |
Hdac10 |
T |
A |
15: 89,010,194 (GRCm39) |
M283L |
probably benign |
Het |
Icam5 |
A |
G |
9: 20,946,095 (GRCm39) |
E309G |
possibly damaging |
Het |
Igkv3-5 |
T |
A |
6: 70,640,865 (GRCm39) |
S115R |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,025,568 (GRCm39) |
R67G |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,232 (GRCm39) |
Y356C |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,168,655 (GRCm39) |
D751G |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,917,831 (GRCm39) |
D3297G |
probably damaging |
Het |
Mall |
A |
G |
2: 127,571,699 (GRCm39) |
F30L |
probably benign |
Het |
Map1b |
C |
T |
13: 99,571,512 (GRCm39) |
G403D |
probably damaging |
Het |
Mmp11 |
T |
C |
10: 75,762,730 (GRCm39) |
Y241C |
probably damaging |
Het |
Niban1 |
C |
A |
1: 151,579,555 (GRCm39) |
R425S |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,557 (GRCm39) |
V171A |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,228,609 (GRCm39) |
A1519T |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,529,490 (GRCm39) |
M96V |
probably benign |
Het |
Piwil4 |
T |
C |
9: 14,614,391 (GRCm39) |
D124G |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,471,041 (GRCm39) |
I538F |
probably damaging |
Het |
Polq |
A |
G |
16: 36,883,200 (GRCm39) |
D1788G |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,980,962 (GRCm39) |
S134P |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,891,363 (GRCm39) |
S56L |
possibly damaging |
Het |
Sel1l |
G |
T |
12: 91,810,033 (GRCm39) |
D26E |
probably benign |
Het |
Slc25a48 |
G |
A |
13: 56,612,758 (GRCm39) |
|
probably benign |
Het |
Tas2r126 |
T |
C |
6: 42,412,241 (GRCm39) |
F258S |
probably benign |
Het |
Tnfrsf13b |
G |
A |
11: 61,032,146 (GRCm39) |
V59I |
possibly damaging |
Het |
Usp6nl |
G |
A |
2: 6,445,879 (GRCm39) |
V619M |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,180,767 (GRCm39) |
I10M |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,264,782 (GRCm39) |
D38G |
probably damaging |
Het |
|
Other mutations in Ift70a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Ift70a1
|
APN |
2 |
75,812,085 (GRCm39) |
unclassified |
probably benign |
|
IGL01140:Ift70a1
|
APN |
2 |
75,810,259 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01527:Ift70a1
|
APN |
2 |
75,810,860 (GRCm39) |
missense |
probably benign |
|
IGL01916:Ift70a1
|
APN |
2 |
75,811,223 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02342:Ift70a1
|
APN |
2 |
75,810,976 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02728:Ift70a1
|
APN |
2 |
75,811,193 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03171:Ift70a1
|
APN |
2 |
75,810,851 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4677001:Ift70a1
|
UTSW |
2 |
75,810,113 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0781:Ift70a1
|
UTSW |
2 |
75,810,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R1110:Ift70a1
|
UTSW |
2 |
75,810,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R1185:Ift70a1
|
UTSW |
2 |
75,810,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Ift70a1
|
UTSW |
2 |
75,810,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1750:Ift70a1
|
UTSW |
2 |
75,810,599 (GRCm39) |
missense |
probably benign |
0.21 |
R2016:Ift70a1
|
UTSW |
2 |
75,811,801 (GRCm39) |
missense |
probably benign |
0.42 |
R2017:Ift70a1
|
UTSW |
2 |
75,811,801 (GRCm39) |
missense |
probably benign |
0.42 |
R2020:Ift70a1
|
UTSW |
2 |
75,811,279 (GRCm39) |
missense |
probably benign |
|
R3606:Ift70a1
|
UTSW |
2 |
75,811,621 (GRCm39) |
missense |
probably benign |
0.06 |
R4272:Ift70a1
|
UTSW |
2 |
75,810,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Ift70a1
|
UTSW |
2 |
75,810,977 (GRCm39) |
missense |
probably benign |
0.26 |
R4894:Ift70a1
|
UTSW |
2 |
75,810,088 (GRCm39) |
makesense |
probably null |
|
R4996:Ift70a1
|
UTSW |
2 |
75,810,266 (GRCm39) |
missense |
probably benign |
|
R5217:Ift70a1
|
UTSW |
2 |
75,811,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5721:Ift70a1
|
UTSW |
2 |
75,811,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R6002:Ift70a1
|
UTSW |
2 |
75,811,121 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6006:Ift70a1
|
UTSW |
2 |
75,811,832 (GRCm39) |
missense |
probably benign |
0.08 |
R7316:Ift70a1
|
UTSW |
2 |
75,811,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Ift70a1
|
UTSW |
2 |
75,810,359 (GRCm39) |
missense |
probably benign |
0.05 |
R7494:Ift70a1
|
UTSW |
2 |
75,810,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Ift70a1
|
UTSW |
2 |
75,811,188 (GRCm39) |
missense |
probably benign |
0.00 |
R7972:Ift70a1
|
UTSW |
2 |
75,810,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R7974:Ift70a1
|
UTSW |
2 |
75,810,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Ift70a1
|
UTSW |
2 |
75,811,519 (GRCm39) |
missense |
probably benign |
0.00 |
R8792:Ift70a1
|
UTSW |
2 |
75,811,898 (GRCm39) |
nonsense |
probably null |
|
R8992:Ift70a1
|
UTSW |
2 |
75,810,251 (GRCm39) |
missense |
probably benign |
0.07 |
R9145:Ift70a1
|
UTSW |
2 |
75,810,423 (GRCm39) |
nonsense |
probably null |
|
R9268:Ift70a1
|
UTSW |
2 |
75,811,279 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-01-21 |