Incidental Mutation 'R2030:Mindy4'
| ID |
221130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy4
|
| Ensembl Gene |
ENSMUSG00000038022 |
| Gene Name |
MINDY lysine 48 deubiquitinase 4 |
| Synonyms |
Fam188b, C330043M08Rik, LOC384387 |
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55180368-55297207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55188247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 26
(T26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053094]
[ENSMUST00000204842]
|
| AlphaFold |
Q3UQI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053094
AA Change: T26A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: T26A
| 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: T26A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: T26A
| 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 |
0.7189 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTCTGAAGTCAGCTCTGGGC -3'
(R):5'- TCAGGGATGCTAGGCTGAAC -3'
Sequencing Primer
(F):5'- CAGCTCTGGGCCCCCAC -3'
(R):5'- GGCTGAACCTAGTTCACTCTGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation