Incidental Mutation 'IGL01321:Ift81'
| ID |
74060 |
| 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 # |
IGL01321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122688267-122752581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122749031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031426]
[ENSMUST00000127220]
[ENSMUST00000136024]
[ENSMUST00000196452]
|
| AlphaFold |
O35594 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031426
AA Change: D40G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: D40G
| 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 |
probably damaging
Transcript: ENSMUST00000127220
AA Change: D40G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116467
Gene: ENSMUSG00000029469
AA Change: D40G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVR|A
|
1 |
122 |
1e-25 |
PDB |
|
coiled coil region
|
167 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136024
AA Change: D40G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118614
Gene: ENSMUSG00000029469
AA Change: D40G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
5 |
50 |
4e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144065
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196452
AA Change: D40G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143512
Gene: ENSMUSG00000029469
AA Change: D40G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
1 |
48 |
4e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196544
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,156,280 (GRCm39) |
S86G |
possibly damaging |
Het |
| Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
| Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
| Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,834,205 (GRCm39) |
*282R |
probably null |
Het |
| Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
| Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,863,816 (GRCm39) |
Y724C |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
| Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,070,611 (GRCm39) |
D5V |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
| Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
| Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
probably benign |
Het |
|
| Other mutations in Ift81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01867:Ift81
|
APN |
5 |
122,740,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL01927:Ift81
|
APN |
5 |
122,731,192 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
2013-10-07 |
Incidental Mutation