Incidental Mutation 'IGL00769:A730017C20Rik'
| ID |
8507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
A730017C20Rik
|
| Ensembl Gene |
ENSMUSG00000050875 |
| Gene Name |
RIKEN cDNA A730017C20 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
59062248-59076962 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59072277 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058633]
[ENSMUST00000117064]
[ENSMUST00000118510]
[ENSMUST00000165666]
[ENSMUST00000175830]
|
| AlphaFold |
Q8C4X7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058633
AA Change: S46P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0258
|
4 |
151 |
7.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117064
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118510
AA Change: S46P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0258
|
4 |
151 |
7.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154125
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165666
AA Change: S88P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: S88P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0258
|
51 |
192 |
3.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175830
AA Change: S46P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0258
|
4 |
150 |
6.2e-41 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175897
AA Change: S78P
|
| SMART Domains |
Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: S78P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0258
|
25 |
146 |
4e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001P01Rik |
A |
G |
11: 97,771,581 (GRCm38) |
F155S |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,948,212 (GRCm38) |
V516A |
possibly damaging |
Het |
| Ambp |
G |
A |
4: 63,144,165 (GRCm38) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,743,365 (GRCm38) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,660,604 (GRCm38) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,912,853 (GRCm38) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,099 (GRCm38) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,326,144 (GRCm38) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 131,082,500 (GRCm38) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 36,004,062 (GRCm38) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,501,484 (GRCm38) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 75,334,180 (GRCm38) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 141,180,449 (GRCm38) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,880,104 (GRCm38) |
E303K |
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 48,198,901 (GRCm38) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 168,668,748 (GRCm38) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 92,014,622 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,692,965 (GRCm38) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 67,908,679 (GRCm38) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,434,274 (GRCm38) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,553,777 (GRCm38) |
Y742D |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,139,050 (GRCm38) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,583,819 (GRCm38) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,256,497 (GRCm38) |
W173* |
probably null |
Het |
|
| Other mutations in A730017C20Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:A730017C20Rik
|
APN |
18 |
59,072,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01621:A730017C20Rik
|
APN |
18 |
59,062,386 (GRCm38) |
start codon destroyed |
probably null |
0.27 |
|
IGL02546:A730017C20Rik
|
APN |
18 |
59,072,275 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0200:A730017C20Rik
|
UTSW |
18 |
59,062,459 (GRCm38) |
splice site |
probably null |
|
|
R0390:A730017C20Rik
|
UTSW |
18 |
59,075,688 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0470:A730017C20Rik
|
UTSW |
18 |
59,075,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:A730017C20Rik
|
UTSW |
18 |
59,062,459 (GRCm38) |
splice site |
probably null |
|
|
R1980:A730017C20Rik
|
UTSW |
18 |
59,075,667 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4916:A730017C20Rik
|
UTSW |
18 |
59,072,205 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6285:A730017C20Rik
|
UTSW |
18 |
59,072,224 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7252:A730017C20Rik
|
UTSW |
18 |
59,066,908 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8771:A730017C20Rik
|
UTSW |
18 |
59,066,980 (GRCm38) |
intron |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation