Incidental Mutation 'R3724:Mindy3'
| ID |
270659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
040715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R3724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12360165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 6
(M6L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000144645]
[ENSMUST00000155530]
[ENSMUST00000154899]
|
| AlphaFold |
Q9CV28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028105
AA Change: M346L
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: M346L
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124603
AA Change: M182L
|
| SMART Domains |
Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: M182L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4205
|
11 |
79 |
8.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129489
|
| SMART Domains |
Protein: ENSMUSP00000122501
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4205
|
11 |
84 |
9.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130225
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135397
AA Change: M6L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144645
|
| SMART Domains |
Protein: ENSMUSP00000116836
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4205
|
11 |
87 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155530
|
| SMART Domains |
Protein: ENSMUSP00000116939
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
135 |
6.24e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154899
|
| SMART Domains |
Protein: ENSMUSP00000121476
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
1 |
110 |
6.61e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1303 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,876,099 (GRCm39) |
R133L |
probably damaging |
Het |
| Abhd8 |
G |
A |
8: 71,914,136 (GRCm39) |
A164V |
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Atl1 |
A |
G |
12: 70,006,154 (GRCm39) |
T487A |
probably damaging |
Het |
| C2cd6 |
C |
T |
1: 59,105,394 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,353 (GRCm39) |
E110G |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,203,039 (GRCm39) |
C386R |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,502,482 (GRCm39) |
V143I |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 57,926,605 (GRCm39) |
M47L |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,270,566 (GRCm39) |
L956P |
probably benign |
Het |
| Enkd1 |
A |
T |
8: 106,430,557 (GRCm39) |
V326E |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,403,180 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,254,662 (GRCm39) |
D66G |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,228,080 (GRCm39) |
|
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,814,513 (GRCm39) |
K409R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,900 (GRCm39) |
T1398A |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,646,319 (GRCm39) |
E44G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,269 (GRCm39) |
Y2286F |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,840,860 (GRCm39) |
|
probably null |
Het |
| Ifna5 |
A |
G |
4: 88,754,171 (GRCm39) |
E137G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,614,541 (GRCm39) |
E468K |
possibly damaging |
Het |
| Kat6a |
A |
T |
8: 23,352,804 (GRCm39) |
H196L |
probably damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Klhl29 |
C |
T |
12: 5,140,603 (GRCm39) |
V680I |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,060,089 (GRCm39) |
I72T |
probably benign |
Het |
| Mbd6 |
C |
T |
10: 127,119,760 (GRCm39) |
|
probably benign |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mrpl9 |
T |
A |
3: 94,355,073 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,020,802 (GRCm39) |
T430S |
probably benign |
Het |
| Or4ac1-ps1 |
T |
G |
2: 88,370,630 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Prkce |
A |
T |
17: 86,476,051 (GRCm39) |
K11* |
probably null |
Het |
| Pros1 |
T |
C |
16: 62,720,692 (GRCm39) |
I117T |
possibly damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,656 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
C |
8: 61,825,756 (GRCm39) |
S584P |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,414,225 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
T |
6: 83,534,448 (GRCm39) |
E280K |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,730,781 (GRCm39) |
I1329T |
probably damaging |
Het |
| Tex2 |
G |
A |
11: 106,420,156 (GRCm39) |
T869I |
unknown |
Het |
| Tlk2 |
A |
G |
11: 105,138,390 (GRCm39) |
T281A |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,396 (GRCm39) |
F702L |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn2r20 |
T |
A |
6: 123,362,706 (GRCm39) |
T693S |
probably benign |
Het |
| Zfand2b |
A |
G |
1: 75,146,499 (GRCm39) |
K125E |
possibly damaging |
Het |
| Zfp422 |
C |
T |
6: 116,603,340 (GRCm39) |
A220T |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,762 (GRCm39) |
V136D |
probably benign |
Het |
|
| Other mutations in Mindy3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01452:Mindy3
|
APN |
2 |
12,360,083 (GRCm39) |
splice site |
probably benign |
|
|
IGL02623:Mindy3
|
APN |
2 |
12,369,294 (GRCm39) |
nonsense |
probably null |
|
|
R0944:Mindy3
|
UTSW |
2 |
12,400,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1275:Mindy3
|
UTSW |
2 |
12,400,984 (GRCm39) |
splice site |
probably null |
|
|
R2066:Mindy3
|
UTSW |
2 |
12,424,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Mindy3
|
UTSW |
2 |
12,408,856 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2357:Mindy3
|
UTSW |
2 |
12,408,987 (GRCm39) |
splice site |
probably benign |
|
|
R4031:Mindy3
|
UTSW |
2 |
12,405,894 (GRCm39) |
splice site |
probably null |
|
|
R4089:Mindy3
|
UTSW |
2 |
12,369,327 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4175:Mindy3
|
UTSW |
2 |
12,410,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Mindy3
|
UTSW |
2 |
12,401,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Mindy3
|
UTSW |
2 |
12,353,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4640:Mindy3
|
UTSW |
2 |
12,352,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4931:Mindy3
|
UTSW |
2 |
12,401,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Mindy3
|
UTSW |
2 |
12,352,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Mindy3
|
UTSW |
2 |
12,405,854 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6330:Mindy3
|
UTSW |
2 |
12,361,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Mindy3
|
UTSW |
2 |
12,386,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Mindy3
|
UTSW |
2 |
12,352,927 (GRCm39) |
nonsense |
probably null |
|
|
R6852:Mindy3
|
UTSW |
2 |
12,424,063 (GRCm39) |
start codon destroyed |
possibly damaging |
0.53 |
|
R6961:Mindy3
|
UTSW |
2 |
12,400,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7103:Mindy3
|
UTSW |
2 |
12,405,885 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7624:Mindy3
|
UTSW |
2 |
12,424,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7661:Mindy3
|
UTSW |
2 |
12,402,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Mindy3
|
UTSW |
2 |
12,404,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Mindy3
|
UTSW |
2 |
12,360,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Mindy3
|
UTSW |
2 |
12,391,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Mindy3
|
UTSW |
2 |
12,361,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAACCTCTGCATGGAAAGGC -3'
(R):5'- TGGCAAATTAAGTGTCATTCCTGTG -3'
Sequencing Primer
(F):5'- TGCATGGAAAGGCCTTTATATAATAG -3'
(R):5'- AAGTGTCATTCCTGTGTATTTGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation