Incidental Mutation 'IGL03058:Mindy4'
| ID |
409341 |
| 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 # |
IGL03058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55180368-55297207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55285183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 659
(V659D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053094]
|
| AlphaFold |
Q3UQI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053094
AA Change: V659D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: V659D
| 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 |
noncoding transcript
Transcript: ENSMUST00000178981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204173
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
| Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
| B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
| Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
| Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
| Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
| Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
| Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
| Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
| Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
| Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
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 |
|
|
IGL01483:Mindy4
|
APN |
6 |
55,193,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation