Incidental Mutation 'IGL03292:Ift52'
ID |
415925 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift52
|
Ensembl Gene |
ENSMUSG00000017858 |
Gene Name |
intraflagellar transport 52 |
Synonyms |
NGD5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03292
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
162859274-162888061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 162865320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 57
(I57N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018002]
[ENSMUST00000150396]
|
AlphaFold |
Q62559 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018002
AA Change: I57N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018002 Gene: ENSMUSG00000017858 AA Change: I57N
Domain | Start | End | E-Value | Type |
Pfam:ABC_transp_aux
|
1 |
116 |
1.8e-13 |
PFAM |
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125144
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150396
AA Change: I57N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121943 Gene: ENSMUSG00000017858 AA Change: I57N
Domain | Start | End | E-Value | Type |
Pfam:ABC_transp_aux
|
3 |
117 |
4.6e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152201
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
Chsy1 |
A |
C |
7: 65,775,120 (GRCm39) |
M150L |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
Frmpd4 |
A |
T |
X: 166,260,586 (GRCm39) |
I1052K |
probably benign |
Het |
Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
Rad52 |
T |
C |
6: 119,895,934 (GRCm39) |
L265P |
possibly damaging |
Het |
Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,430,962 (GRCm39) |
M821K |
probably benign |
Het |
Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
Txnrd2 |
C |
A |
16: 18,296,479 (GRCm39) |
H511Q |
possibly damaging |
Het |
Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
Het |
|
Other mutations in Ift52 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02006:Ift52
|
APN |
2 |
162,865,289 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02164:Ift52
|
APN |
2 |
162,867,384 (GRCm39) |
splice site |
probably null |
|
IGL02657:Ift52
|
APN |
2 |
162,887,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02876:Ift52
|
APN |
2 |
162,878,627 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03136:Ift52
|
APN |
2 |
162,867,254 (GRCm39) |
nonsense |
probably null |
|
R1115:Ift52
|
UTSW |
2 |
162,871,702 (GRCm39) |
missense |
probably benign |
0.34 |
R1502:Ift52
|
UTSW |
2 |
162,871,782 (GRCm39) |
critical splice donor site |
probably null |
|
R1775:Ift52
|
UTSW |
2 |
162,867,275 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2204:Ift52
|
UTSW |
2 |
162,873,150 (GRCm39) |
missense |
probably benign |
0.07 |
R2259:Ift52
|
UTSW |
2 |
162,870,013 (GRCm39) |
missense |
probably benign |
0.04 |
R2348:Ift52
|
UTSW |
2 |
162,887,177 (GRCm39) |
missense |
probably damaging |
0.99 |
R4820:Ift52
|
UTSW |
2 |
162,873,108 (GRCm39) |
missense |
probably benign |
0.06 |
R5464:Ift52
|
UTSW |
2 |
162,871,735 (GRCm39) |
missense |
probably benign |
0.20 |
R7054:Ift52
|
UTSW |
2 |
162,871,716 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Ift52
|
UTSW |
2 |
162,865,278 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2016-08-02 |