Incidental Mutation 'IGL00769:9930111J21Rik1'
| ID |
8501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
9930111J21Rik1
|
| Ensembl Gene |
ENSMUSG00000069893 |
| Gene Name |
RIKEN cDNA 9930111J21 gene 1 |
| Synonyms |
9930111J21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48836977-48870208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48839039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 516
(V516A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000097494]
[ENSMUST00000104958]
|
| AlphaFold |
Q5SVP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059930
|
| SMART Domains |
Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
27 |
389 |
8.4e-123 |
PFAM |
|
Pfam:MMR_HSR1
|
63 |
190 |
2.2e-9 |
PFAM |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:IIGP
|
438 |
811 |
3.4e-152 |
PFAM |
|
Pfam:MMR_HSR1
|
474 |
632 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097494
AA Change: V516A
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: V516A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
36 |
398 |
2e-125 |
PFAM |
|
Pfam:DLIC
|
52 |
107 |
3.2e-5 |
PFAM |
|
Pfam:MMR_HSR1
|
72 |
235 |
2e-11 |
PFAM |
|
low complexity region
|
430 |
444 |
N/A |
INTRINSIC |
|
Pfam:IIGP
|
447 |
820 |
1.9e-153 |
PFAM |
|
Pfam:MMR_HSR1
|
483 |
611 |
3.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104958
|
| SMART Domains |
Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
11 |
71 |
1.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
93 |
237 |
5.3e-58 |
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 |
|---|
| Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
| Other mutations in 9930111J21Rik1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02189:9930111J21Rik1
|
APN |
11 |
48,838,248 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02554:9930111J21Rik1
|
APN |
11 |
48,838,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03172:9930111J21Rik1
|
APN |
11 |
48,839,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:9930111J21Rik1
|
APN |
11 |
48,838,302 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0502:9930111J21Rik1
|
UTSW |
11 |
48,838,322 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0503:9930111J21Rik1
|
UTSW |
11 |
48,838,322 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2023:9930111J21Rik1
|
UTSW |
11 |
48,839,247 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3704:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3705:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3714:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3715:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3961:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3962:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4867:9930111J21Rik1
|
UTSW |
11 |
48,839,375 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5033:9930111J21Rik1
|
UTSW |
11 |
48,838,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:9930111J21Rik1
|
UTSW |
11 |
48,839,352 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6567:9930111J21Rik1
|
UTSW |
11 |
48,838,950 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6774:9930111J21Rik1
|
UTSW |
11 |
48,838,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7730:9930111J21Rik1
|
UTSW |
11 |
48,838,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7863:9930111J21Rik1
|
UTSW |
11 |
48,838,101 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8408:9930111J21Rik1
|
UTSW |
11 |
48,838,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:9930111J21Rik1
|
UTSW |
11 |
48,839,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:9930111J21Rik1
|
UTSW |
11 |
48,839,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9493:9930111J21Rik1
|
UTSW |
11 |
48,838,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:9930111J21Rik1
|
UTSW |
11 |
48,839,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:9930111J21Rik1
|
UTSW |
11 |
48,838,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:9930111J21Rik1
|
UTSW |
11 |
48,839,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:9930111J21Rik1
|
UTSW |
11 |
48,838,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation