Incidental Mutation 'IGL00493:Ift70a1'
ID |
26793 |
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? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL00493
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 75812085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
AlphaFold |
Q99J38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099994
|
SMART Domains |
Protein: ENSMUSP00000097574 Gene: ENSMUSG00000075271
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
Bltp3b |
A |
C |
10: 89,615,846 (GRCm39) |
D163A |
probably damaging |
Het |
Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
Krt6a |
T |
G |
15: 101,601,229 (GRCm39) |
K241N |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,550,922 (GRCm39) |
N316K |
probably damaging |
Het |
Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
Rdm1 |
T |
G |
11: 101,526,580 (GRCm39) |
C251G |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
Ugt2b1 |
A |
G |
5: 87,073,817 (GRCm39) |
C181R |
probably benign |
Het |
Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
Other mutations in Ift70a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01140:Ift70a1
|
APN |
2 |
75,810,259 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01527:Ift70a1
|
APN |
2 |
75,810,860 (GRCm39) |
missense |
probably benign |
|
IGL01690:Ift70a1
|
APN |
2 |
75,810,277 (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 |
2013-04-17 |