Incidental Mutation 'R4167:Mindy4'
| ID |
320621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy4
|
| Ensembl Gene |
ENSMUSG00000038022 |
| Gene Name |
MINDY lysine 48 deubiquitinase 4 |
| Synonyms |
Fam188b, C330043M08Rik, LOC384387 |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55180368-55297207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55201331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 339
(G339S)
|
| 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: G339S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: G339S
| 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 |
possibly damaging
Transcript: ENSMUST00000204842
AA Change: G339S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: G339S
| 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 |
|
| Meta Mutation Damage Score |
0.0902 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGCTGAATGAACTGTC -3'
(R):5'- CCTGCTACAGCTCGAAGAAG -3'
Sequencing Primer
(F):5'- GCCAGCTGAATGAACTGTCTATAG -3'
(R):5'- TCCCCCTGACCTTTGGAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation