Incidental Mutation 'R7625:Mindy4'
ID |
589381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mindy4
|
Ensembl Gene |
ENSMUSG00000038022 |
Gene Name |
MINDY lysine 48 deubiquitinase 4 |
Synonyms |
Fam188b, C330043M08Rik, LOC384387 |
MMRRC Submission |
045719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7625 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
55180368-55297207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55253598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 489
(I489T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053094]
[ENSMUST00000204842]
|
AlphaFold |
Q3UQI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053094
AA Change: I489T
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000061221 Gene: ENSMUSG00000038022 AA Change: I489T
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: I489T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145151 Gene: ENSMUSG00000038022 AA Change: I489T
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,773,587 (GRCm39) |
V506E |
probably damaging |
Het |
Acaa2 |
G |
T |
18: 74,937,213 (GRCm39) |
V366F |
possibly damaging |
Het |
Ago1 |
G |
A |
4: 126,337,022 (GRCm39) |
R532C |
probably benign |
Het |
Ank2 |
T |
G |
3: 126,846,449 (GRCm39) |
D182A |
probably damaging |
Het |
Anxa4 |
T |
C |
6: 86,714,801 (GRCm39) |
D302G |
probably damaging |
Het |
Apoa4 |
A |
T |
9: 46,154,410 (GRCm39) |
E337V |
probably damaging |
Het |
Atf1 |
A |
G |
15: 100,152,158 (GRCm39) |
|
probably null |
Het |
Atp8b3 |
A |
C |
10: 80,355,980 (GRCm39) |
V1244G |
probably benign |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Camk2a |
G |
A |
18: 61,085,412 (GRCm39) |
V132M |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
Chd8 |
G |
A |
14: 52,474,534 (GRCm39) |
P166S |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,706,086 (GRCm39) |
S1140R |
probably damaging |
Het |
Clstn3 |
G |
T |
6: 124,414,377 (GRCm39) |
S783* |
probably null |
Het |
Col6a1 |
A |
G |
10: 76,549,760 (GRCm39) |
S562P |
unknown |
Het |
Cpb2 |
G |
A |
14: 75,509,989 (GRCm39) |
V250M |
possibly damaging |
Het |
Cyp2c38 |
T |
A |
19: 39,451,368 (GRCm39) |
Q44L |
possibly damaging |
Het |
Dgat1 |
T |
C |
15: 76,387,395 (GRCm39) |
M325V |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 118,160,377 (GRCm39) |
M118L |
probably benign |
Het |
Dpy19l3 |
T |
A |
7: 35,452,106 (GRCm39) |
I13L |
probably benign |
Het |
Enkd1 |
A |
G |
8: 106,431,265 (GRCm39) |
|
probably null |
Het |
Fam241b |
A |
G |
10: 61,970,479 (GRCm39) |
|
probably benign |
Het |
Fhit |
T |
A |
14: 9,870,177 (GRCm38) |
|
probably null |
Het |
Gp6 |
T |
C |
7: 4,373,173 (GRCm39) |
E250G |
probably benign |
Het |
Hmgb1 |
T |
C |
5: 148,987,150 (GRCm39) |
E84G |
probably benign |
Het |
Hscb |
T |
A |
5: 110,977,012 (GRCm39) |
I227F |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,292,249 (GRCm39) |
L4047Q |
probably damaging |
Het |
Hsph1 |
A |
G |
5: 149,541,901 (GRCm39) |
L775P |
probably benign |
Het |
Hydin |
A |
T |
8: 111,268,476 (GRCm39) |
S2947C |
probably benign |
Het |
Intu |
T |
C |
3: 40,652,029 (GRCm39) |
S829P |
probably benign |
Het |
Kcnn3 |
C |
A |
3: 89,516,977 (GRCm39) |
T462K |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,517,930 (GRCm39) |
C1622Y |
possibly damaging |
Het |
Lifr |
T |
C |
15: 7,198,723 (GRCm39) |
Y318H |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,378,543 (GRCm39) |
S332P |
probably damaging |
Het |
Mmp8 |
A |
T |
9: 7,566,218 (GRCm39) |
Q358L |
probably benign |
Het |
Ms4a4a |
T |
A |
19: 11,367,728 (GRCm39) |
|
probably null |
Het |
Nav1 |
G |
C |
1: 135,395,483 (GRCm39) |
S962C |
probably damaging |
Het |
Nfe2l1 |
G |
A |
11: 96,710,271 (GRCm39) |
R653C |
probably damaging |
Het |
Nherf4 |
A |
T |
9: 44,161,594 (GRCm39) |
I95N |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,391,906 (GRCm39) |
I738F |
probably damaging |
Het |
Nrf1 |
G |
A |
6: 30,116,230 (GRCm39) |
V301I |
probably benign |
Het |
Oog1 |
T |
C |
12: 87,655,082 (GRCm39) |
F410S |
probably benign |
Het |
Or52a33 |
A |
G |
7: 103,289,165 (GRCm39) |
Y61H |
probably damaging |
Het |
Or6k4 |
G |
A |
1: 173,964,733 (GRCm39) |
C141Y |
probably benign |
Het |
Pcdhga8 |
G |
A |
18: 37,859,954 (GRCm39) |
V337I |
probably benign |
Het |
Pelp1 |
G |
T |
11: 70,286,260 (GRCm39) |
N572K |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,307,036 (GRCm39) |
V1808A |
possibly damaging |
Het |
Pirt |
A |
C |
11: 66,816,769 (GRCm39) |
S27R |
probably damaging |
Het |
Pramel20 |
A |
T |
4: 143,298,821 (GRCm39) |
I255L |
probably benign |
Het |
Rgs17 |
A |
T |
10: 5,791,488 (GRCm39) |
D96E |
probably benign |
Het |
Senp1 |
A |
G |
15: 97,964,679 (GRCm39) |
F206L |
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,825,756 (GRCm39) |
S584T |
probably benign |
Het |
Tex44 |
A |
T |
1: 86,354,459 (GRCm39) |
K123* |
probably null |
Het |
Tpst2 |
C |
A |
5: 112,455,887 (GRCm39) |
T142K |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,433,085 (GRCm39) |
G2040R |
possibly damaging |
Het |
Uggt2 |
T |
A |
14: 119,263,905 (GRCm39) |
I1042F |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,325,693 (GRCm39) |
S104P |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 102,003,252 (GRCm39) |
|
probably null |
Het |
Zeb2 |
G |
A |
2: 44,892,584 (GRCm39) |
A223V |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,096,520 (GRCm39) |
D303G |
probably benign |
Het |
Zfp566 |
A |
G |
7: 29,777,930 (GRCm39) |
S84P |
probably benign |
Het |
Zfp994 |
T |
A |
17: 22,420,736 (GRCm39) |
H71L |
possibly damaging |
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 |
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 |
|
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'- TGTGATAGCATCCTTCAGGCC -3'
(R):5'- ACATGAGCCTGGAGTTTGG -3'
Sequencing Primer
(F):5'- ACCTGGCTCCTGGTCAC -3'
(R):5'- CATGAGCCTGGAGTTTGGAAATC -3'
|
Posted On |
2019-10-24 |