Incidental Mutation 'R1115:Ift52'
| ID |
97121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift52
|
| Ensembl Gene |
ENSMUSG00000017858 |
| Gene Name |
intraflagellar transport 52 |
| Synonyms |
NGD5 |
| MMRRC Submission |
039188-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
162859274-162888061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162871702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 178
(K178R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018002]
[ENSMUST00000150396]
|
| AlphaFold |
Q62559 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018002
AA Change: K178R
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: K178R
| 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 |
probably benign
Transcript: ENSMUST00000150396
AA Change: K178R
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: K178R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_transp_aux
|
3 |
117 |
4.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152201
|
| Meta Mutation Damage Score |
0.0831 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
A |
11: 100,370,081 (GRCm39) |
V994F |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,214,741 (GRCm39) |
T182A |
probably benign |
Het |
| Bcl2l14 |
T |
C |
6: 134,409,102 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,553,511 (GRCm39) |
M1183V |
possibly damaging |
Het |
| Ccr7 |
A |
T |
11: 99,036,103 (GRCm39) |
I273K |
possibly damaging |
Het |
| Cd40 |
A |
G |
2: 164,912,681 (GRCm39) |
M211V |
possibly damaging |
Het |
| Coro2b |
T |
G |
9: 62,338,609 (GRCm39) |
E208A |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,517,968 (GRCm39) |
M556R |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,062 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,787,114 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
A |
C |
5: 118,215,636 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,629,802 (GRCm39) |
E263G |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,939,007 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,810,192 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,137,859 (GRCm39) |
|
probably null |
Het |
| Mxra7 |
G |
T |
11: 116,701,696 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,453,024 (GRCm39) |
S7* |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,180,803 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or1l8 |
C |
A |
2: 36,817,514 (GRCm39) |
G204V |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 15,998,085 (GRCm39) |
D512E |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,399,352 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,666,841 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ren1 |
T |
A |
1: 133,284,256 (GRCm39) |
V207D |
probably damaging |
Het |
| S100a8 |
A |
G |
3: 90,577,180 (GRCm39) |
D59G |
probably damaging |
Het |
| Sdcbp |
G |
A |
4: 6,377,143 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slamf7 |
A |
T |
1: 171,466,751 (GRCm39) |
D151E |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,628,980 (GRCm39) |
M561V |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,523,331 (GRCm39) |
I662T |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,632,028 (GRCm39) |
V20D |
unknown |
Het |
| Znhit6 |
G |
T |
3: 145,300,440 (GRCm39) |
|
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 |
|
|
IGL03292:Ift52
|
APN |
2 |
162,865,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGTAGACACATGCACACTAGCATA -3'
(R):5'- TGCAGCCAAAgctggagagaga -3'
Sequencing Primer
(F):5'- actaagttctctcctgctgctg -3'
(R):5'- tccaacttcctctaccccc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation