Incidental Mutation 'IGL01889:Mindy2'
| ID |
179218 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mindy2
|
| Ensembl Gene |
ENSMUSG00000042444 |
| Gene Name |
MINDY lysine 48 deubiquitinase 2 |
| Synonyms |
Fam63b, B230380D07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
70506296-70564456 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 70538444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049031]
[ENSMUST00000213380]
|
| AlphaFold |
Q6PDI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049031
|
| SMART Domains |
Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
195 |
N/A |
INTRINSIC |
|
Pfam:DUF544
|
250 |
373 |
6.9e-42 |
PFAM |
|
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214293
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,804,981 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,798,881 (GRCm39) |
V18I |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
| Gapt |
T |
A |
13: 110,490,501 (GRCm39) |
Q54L |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,327,216 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
| Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
| Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
| Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,264,089 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
possibly damaging |
Het |
|
| Other mutations in Mindy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Mindy2
|
APN |
9 |
70,541,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00770:Mindy2
|
APN |
9 |
70,538,315 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00774:Mindy2
|
APN |
9 |
70,538,315 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02860:Mindy2
|
APN |
9 |
70,563,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Mindy2
|
UTSW |
9 |
70,514,731 (GRCm39) |
splice site |
probably benign |
|
|
R0563:Mindy2
|
UTSW |
9 |
70,538,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1109:Mindy2
|
UTSW |
9 |
70,538,361 (GRCm39) |
nonsense |
probably null |
|
|
R1446:Mindy2
|
UTSW |
9 |
70,514,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1736:Mindy2
|
UTSW |
9 |
70,538,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Mindy2
|
UTSW |
9 |
70,563,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4091:Mindy2
|
UTSW |
9 |
70,541,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4290:Mindy2
|
UTSW |
9 |
70,538,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Mindy2
|
UTSW |
9 |
70,534,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Mindy2
|
UTSW |
9 |
70,541,283 (GRCm39) |
splice site |
probably null |
|
|
R4973:Mindy2
|
UTSW |
9 |
70,512,453 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6077:Mindy2
|
UTSW |
9 |
70,538,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Mindy2
|
UTSW |
9 |
70,512,480 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6872:Mindy2
|
UTSW |
9 |
70,524,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7307:Mindy2
|
UTSW |
9 |
70,518,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7521:Mindy2
|
UTSW |
9 |
70,514,792 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7638:Mindy2
|
UTSW |
9 |
70,524,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Mindy2
|
UTSW |
9 |
70,512,508 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2014-05-07 |
Incidental Mutation