Incidental Mutation 'IGL01927:Ift81'
| ID |
180328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ift81
|
| Ensembl Gene |
ENSMUSG00000029469 |
| Gene Name |
intraflagellar transport 81 |
| Synonyms |
Cdv1, CDV-1R |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122688267-122752581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122731192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 321
(T321M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031426]
|
| AlphaFold |
O35594 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031426
AA Change: T321M
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: T321M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
5 |
128 |
2e-23 |
PDB |
|
coiled coil region
|
167 |
258 |
N/A |
INTRINSIC |
|
coiled coil region
|
308 |
383 |
N/A |
INTRINSIC |
|
coiled coil region
|
503 |
591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139590
AA Change: T165M
|
| Coding Region Coverage |
|
| 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, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
G |
2: 35,266,026 (GRCm39) |
Y215H |
probably damaging |
Het |
| Acsm2 |
T |
C |
7: 119,177,435 (GRCm39) |
F317L |
possibly damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,541,394 (GRCm39) |
D297G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,150,231 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,164,896 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,109 (GRCm39) |
S105T |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,091,152 (GRCm39) |
I414F |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,526,127 (GRCm39) |
M354V |
probably benign |
Het |
| Ereg |
T |
A |
5: 91,234,671 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,784,044 (GRCm39) |
Q95L |
probably damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,811 (GRCm39) |
R409H |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,405,813 (GRCm39) |
I126T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,106,477 (GRCm39) |
Y295H |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,640,848 (GRCm39) |
V1005E |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,246,694 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
A |
11: 119,548,500 (GRCm39) |
V58E |
probably damaging |
Het |
| Togaram1 |
C |
T |
12: 65,023,476 (GRCm39) |
A687V |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,105 (GRCm39) |
F15L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r82 |
T |
C |
10: 79,213,906 (GRCm39) |
L164P |
probably damaging |
Het |
| Zfp623 |
T |
A |
15: 75,819,354 (GRCm39) |
N103K |
possibly damaging |
Het |
|
| Other mutations in Ift81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Ift81
|
APN |
5 |
122,749,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Ift81
|
APN |
5 |
122,740,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL02954:Ift81
|
APN |
5 |
122,748,248 (GRCm39) |
splice site |
probably benign |
|
|
IGL03003:Ift81
|
APN |
5 |
122,732,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1179:Ift81
|
UTSW |
5 |
122,740,773 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1394:Ift81
|
UTSW |
5 |
122,706,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1395:Ift81
|
UTSW |
5 |
122,706,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1962:Ift81
|
UTSW |
5 |
122,698,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2084:Ift81
|
UTSW |
5 |
122,705,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Ift81
|
UTSW |
5 |
122,731,192 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4769:Ift81
|
UTSW |
5 |
122,732,656 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4849:Ift81
|
UTSW |
5 |
122,729,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Ift81
|
UTSW |
5 |
122,729,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4924:Ift81
|
UTSW |
5 |
122,732,679 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5110:Ift81
|
UTSW |
5 |
122,689,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5299:Ift81
|
UTSW |
5 |
122,745,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Ift81
|
UTSW |
5 |
122,693,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Ift81
|
UTSW |
5 |
122,689,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Ift81
|
UTSW |
5 |
122,740,414 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6404:Ift81
|
UTSW |
5 |
122,749,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Ift81
|
UTSW |
5 |
122,748,229 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Ift81
|
UTSW |
5 |
122,707,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7170:Ift81
|
UTSW |
5 |
122,693,596 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Ift81
|
UTSW |
5 |
122,732,623 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7700:Ift81
|
UTSW |
5 |
122,732,623 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7709:Ift81
|
UTSW |
5 |
122,747,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Ift81
|
UTSW |
5 |
122,689,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Ift81
|
UTSW |
5 |
122,689,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Ift81
|
UTSW |
5 |
122,689,122 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9329:Ift81
|
UTSW |
5 |
122,697,833 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9761:Ift81
|
UTSW |
5 |
122,729,146 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-05-07 |
Incidental Mutation