Incidental Mutation 'IGL00767:Mindy2'
| ID |
10668 |
| 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 # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
70506296-70564456 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 70541285 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 null
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 null
Transcript: ENSMUST00000213380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214293
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,137 (GRCm39) |
|
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,006,377 (GRCm39) |
H106Y |
probably damaging |
Het |
| Pdlim3 |
G |
A |
8: 46,349,827 (GRCm39) |
G46R |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
G |
T |
1: 107,463,807 (GRCm39) |
V30F |
possibly damaging |
Het |
| Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mindy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01889:Mindy2
|
APN |
9 |
70,538,444 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation