Incidental Mutation 'R6390:Ift57'
ID |
515738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift57
|
Ensembl Gene |
ENSMUSG00000032965 |
Gene Name |
intraflagellar transport 57 |
Synonyms |
4833420A15Rik, Esrrbl1, HIPPI, MHS4R2 |
MMRRC Submission |
044539-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6390 (G1)
|
Quality Score |
119.008 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
49519657-49585489 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 49582836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046777]
[ENSMUST00000142682]
|
AlphaFold |
Q8BXG3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046777
|
SMART Domains |
Protein: ENSMUSP00000046645 Gene: ENSMUSG00000032965
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
Pfam:IFT57
|
44 |
401 |
2.1e-154 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127115
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140914
|
SMART Domains |
Protein: ENSMUSP00000116412 Gene: ENSMUSG00000032965
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:IFT57
|
48 |
273 |
6.4e-84 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142682
|
SMART Domains |
Protein: ENSMUSP00000117882 Gene: ENSMUSG00000032965
Domain | Start | End | E-Value | Type |
Pfam:IFT57
|
1 |
272 |
5.5e-111 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
100% (29/29) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
Other mutations in Ift57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02476:Ift57
|
APN |
16 |
49,584,252 (GRCm39) |
missense |
probably benign |
0.39 |
R0636:Ift57
|
UTSW |
16 |
49,532,259 (GRCm39) |
missense |
probably benign |
0.27 |
R1552:Ift57
|
UTSW |
16 |
49,579,716 (GRCm39) |
missense |
probably benign |
0.09 |
R2172:Ift57
|
UTSW |
16 |
49,579,703 (GRCm39) |
missense |
probably benign |
0.03 |
R2885:Ift57
|
UTSW |
16 |
49,584,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R4657:Ift57
|
UTSW |
16 |
49,582,957 (GRCm39) |
splice site |
probably null |
|
R4761:Ift57
|
UTSW |
16 |
49,522,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R5726:Ift57
|
UTSW |
16 |
49,519,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Ift57
|
UTSW |
16 |
49,531,471 (GRCm39) |
intron |
probably benign |
|
R6013:Ift57
|
UTSW |
16 |
49,519,667 (GRCm39) |
splice site |
probably null |
|
R6189:Ift57
|
UTSW |
16 |
49,584,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6749:Ift57
|
UTSW |
16 |
49,581,347 (GRCm39) |
missense |
probably benign |
0.23 |
R6862:Ift57
|
UTSW |
16 |
49,584,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7073:Ift57
|
UTSW |
16 |
49,584,230 (GRCm39) |
missense |
probably benign |
0.10 |
R7379:Ift57
|
UTSW |
16 |
49,581,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R7556:Ift57
|
UTSW |
16 |
49,526,491 (GRCm39) |
missense |
probably benign |
0.00 |
R8479:Ift57
|
UTSW |
16 |
49,522,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R9011:Ift57
|
UTSW |
16 |
49,579,777 (GRCm39) |
missense |
probably benign |
0.34 |
R9313:Ift57
|
UTSW |
16 |
49,557,085 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9392:Ift57
|
UTSW |
16 |
49,584,174 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGCATTGTGTTGGCTAATAAC -3'
(R):5'- TGAAGGCATACTCACTGCCG -3'
Sequencing Primer
(F):5'- GGTAAATGCTAGTGATAATTGCACAG -3'
(R):5'- ACTGCCGTCCGTCATGCTG -3'
|
Posted On |
2018-05-04 |