Incidental Mutation 'R8518:Mindy3'
| ID |
656235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
067850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R8518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12360154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 349
(K349N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000144645]
[ENSMUST00000154899]
[ENSMUST00000155530]
|
| AlphaFold |
Q9CV28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028105
AA Change: K349N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: K349N
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124603
AA Change: K185N
|
| SMART Domains |
Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: K185N
| 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 |
probably benign
Transcript: ENSMUST00000135397
AA Change: K9N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| 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 |
probably benign
Transcript: ENSMUST00000154899
|
| SMART Domains |
Protein: ENSMUSP00000121476
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
1 |
110 |
6.61e-7 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,223,398 (GRCm39) |
V170A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,666,957 (GRCm39) |
E418G |
probably damaging |
Het |
| Adra2b |
T |
C |
2: 127,206,056 (GRCm39) |
L191P |
probably damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bag2 |
T |
C |
1: 33,787,358 (GRCm39) |
I55V |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,156,064 (GRCm39) |
L192P |
possibly damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,343 (GRCm39) |
I200M |
possibly damaging |
Het |
| Cacna1i |
C |
A |
15: 80,243,095 (GRCm39) |
Y417* |
probably null |
Het |
| Cdc7 |
T |
A |
5: 107,120,864 (GRCm39) |
I162N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,754,211 (GRCm39) |
I89T |
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,346,510 (GRCm39) |
N224S |
probably benign |
Het |
| Dync1i1 |
T |
G |
6: 5,913,330 (GRCm39) |
L188V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,051,452 (GRCm39) |
V3161A |
probably benign |
Het |
| E2f3 |
T |
A |
13: 30,097,453 (GRCm39) |
K303N |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,748,635 (GRCm39) |
T663A |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,189,390 (GRCm39) |
R611G |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,224 (GRCm39) |
S506C |
probably damaging |
Het |
| Gm10318 |
T |
A |
10: 77,688,712 (GRCm39) |
M6K |
unknown |
Het |
| Gm6563 |
T |
A |
19: 23,653,480 (GRCm39) |
V90E |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,163,384 (GRCm39) |
S13P |
probably benign |
Het |
| Gpr107 |
C |
A |
2: 31,066,939 (GRCm39) |
H196Q |
probably benign |
Het |
| Heatr1 |
T |
G |
13: 12,425,415 (GRCm39) |
D618E |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,808,690 (GRCm39) |
V391A |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,151,670 (GRCm39) |
V261A |
probably damaging |
Het |
| Mrpl48 |
G |
A |
7: 100,232,269 (GRCm39) |
|
probably benign |
Het |
| Msantd5f5 |
T |
A |
4: 73,542,641 (GRCm39) |
L47Q |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,430,927 (GRCm39) |
I8062V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,740,270 (GRCm39) |
N575D |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,311,261 (GRCm39) |
L370P |
probably damaging |
Het |
| Numbl |
T |
C |
7: 26,964,361 (GRCm39) |
V57A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,804 (GRCm39) |
V44A |
probably damaging |
Het |
| Or5b12 |
G |
A |
19: 12,896,959 (GRCm39) |
T238I |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,742 (GRCm39) |
C184* |
probably null |
Het |
| Pdia2 |
A |
T |
17: 26,417,144 (GRCm39) |
L100* |
probably null |
Het |
| Prpf31 |
A |
T |
7: 3,635,742 (GRCm39) |
N105I |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,839,923 (GRCm39) |
N971D |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,353,043 (GRCm39) |
M3980K |
|
Het |
| Skint6 |
A |
G |
4: 113,095,465 (GRCm39) |
F65L |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,884 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfpt |
A |
G |
7: 3,632,065 (GRCm39) |
F15S |
possibly damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,971 (GRCm39) |
V464E |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,019,545 (GRCm39) |
L824H |
probably damaging |
Het |
| Trav15-1-dv6-1 |
A |
G |
14: 53,797,666 (GRCm39) |
D105G |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,258,238 (GRCm39) |
S1679P |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,837 (GRCm39) |
Y19H |
probably damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,586 (GRCm39) |
R1099W |
probably damaging |
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 |
|
|
R3724:Mindy3
|
UTSW |
2 |
12,360,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- AACCTCTGCATGGAAAGGC -3'
(R):5'- TGGCAAATTAAGTGTCATTCCTGTG -3'
Sequencing Primer
(F):5'- TGCATGGAAAGGCCTTTATATAATAG -3'
(R):5'- AAGTGTCATTCCTGTGTATTTGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation