Incidental Mutation 'IGL01483:Mindy4'
| ID |
88678 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mindy4
|
| Ensembl Gene |
ENSMUSG00000038022 |
| Gene Name |
MINDY lysine 48 deubiquitinase 4 |
| Synonyms |
Fam188b, C330043M08Rik, LOC384387 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55180368-55297207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55193670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 121
(D121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053094]
[ENSMUST00000204842]
|
| AlphaFold |
Q3UQI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053094
AA Change: D121G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: D121G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
277 |
N/A |
INTRINSIC |
|
DUF4205
|
403 |
739 |
1.47e-187 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204842
AA Change: D121G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: D121G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
277 |
N/A |
INTRINSIC |
|
DUF4205
|
403 |
591 |
6.19e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
| Other mutations in Mindy4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Mindy4
|
APN |
6 |
55,261,727 (GRCm39) |
splice site |
probably benign |
|
|
IGL01721:Mindy4
|
APN |
6 |
55,200,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01965:Mindy4
|
APN |
6 |
55,237,517 (GRCm39) |
splice site |
probably benign |
|
|
IGL02214:Mindy4
|
APN |
6 |
55,193,636 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03058:Mindy4
|
APN |
6 |
55,285,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Mindy4
|
APN |
6 |
55,286,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Mindy4
|
APN |
6 |
55,274,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0383:Mindy4
|
UTSW |
6 |
55,253,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0384:Mindy4
|
UTSW |
6 |
55,193,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Mindy4
|
UTSW |
6 |
55,253,570 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0848:Mindy4
|
UTSW |
6 |
55,295,271 (GRCm39) |
nonsense |
probably null |
|
|
R1171:Mindy4
|
UTSW |
6 |
55,232,601 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1210:Mindy4
|
UTSW |
6 |
55,261,798 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1341:Mindy4
|
UTSW |
6 |
55,232,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2030:Mindy4
|
UTSW |
6 |
55,188,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Mindy4
|
UTSW |
6 |
55,195,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2237:Mindy4
|
UTSW |
6 |
55,278,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Mindy4
|
UTSW |
6 |
55,278,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2250:Mindy4
|
UTSW |
6 |
55,277,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2571:Mindy4
|
UTSW |
6 |
55,261,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Mindy4
|
UTSW |
6 |
55,255,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Mindy4
|
UTSW |
6 |
55,195,349 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3002:Mindy4
|
UTSW |
6 |
55,195,349 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3498:Mindy4
|
UTSW |
6 |
55,193,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4167:Mindy4
|
UTSW |
6 |
55,201,331 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4767:Mindy4
|
UTSW |
6 |
55,237,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4812:Mindy4
|
UTSW |
6 |
55,256,088 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5109:Mindy4
|
UTSW |
6 |
55,193,730 (GRCm39) |
splice site |
probably null |
|
|
R5203:Mindy4
|
UTSW |
6 |
55,232,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5221:Mindy4
|
UTSW |
6 |
55,201,092 (GRCm39) |
missense |
probably benign |
|
|
R5628:Mindy4
|
UTSW |
6 |
55,237,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6265:Mindy4
|
UTSW |
6 |
55,278,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6596:Mindy4
|
UTSW |
6 |
55,201,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7084:Mindy4
|
UTSW |
6 |
55,255,220 (GRCm39) |
missense |
probably benign |
|
|
R7350:Mindy4
|
UTSW |
6 |
55,278,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7535:Mindy4
|
UTSW |
6 |
55,274,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7625:Mindy4
|
UTSW |
6 |
55,253,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8052:Mindy4
|
UTSW |
6 |
55,277,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Mindy4
|
UTSW |
6 |
55,256,055 (GRCm39) |
unclassified |
probably benign |
|
|
R8884:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8890:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8892:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8894:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8896:Mindy4
|
UTSW |
6 |
55,255,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8932:Mindy4
|
UTSW |
6 |
55,201,115 (GRCm39) |
missense |
probably benign |
|
|
R9018:Mindy4
|
UTSW |
6 |
55,278,072 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9045:Mindy4
|
UTSW |
6 |
55,295,283 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9185:Mindy4
|
UTSW |
6 |
55,295,261 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0065:Mindy4
|
UTSW |
6 |
55,239,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mindy4
|
UTSW |
6 |
55,201,326 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2013-11-18 |
Incidental Mutation