Incidental Mutation 'IGL02623:Mindy3'
ID |
300958 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mindy3
|
Ensembl Gene |
ENSMUSG00000026767 |
Gene Name |
MINDY lysine 48 deubiquitinase 3 |
Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL02623
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 12369294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 142
(Q142*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000129993]
[ENSMUST00000144645]
[ENSMUST00000154899]
[ENSMUST00000155530]
|
AlphaFold |
Q9CV28 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028105
AA Change: Q306*
|
SMART Domains |
Protein: ENSMUSP00000028105 Gene: ENSMUSG00000026767 AA Change: Q306*
Domain | Start | End | E-Value | Type |
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124603
AA Change: Q142*
|
SMART Domains |
Protein: ENSMUSP00000117457 Gene: ENSMUSG00000026767 AA Change: Q142*
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: ENSMUST00000129993
|
SMART Domains |
Protein: ENSMUSP00000141479 Gene: ENSMUSG00000026767
Domain | Start | End | E-Value | Type |
Pfam:DUF4205
|
3 |
87 |
1.3e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130225
|
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: ENSMUST00000195758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194533
|
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 |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
A |
16: 90,853,032 (GRCm39) |
I35F |
probably benign |
Het |
Acad10 |
A |
G |
5: 121,767,993 (GRCm39) |
V819A |
possibly damaging |
Het |
Adgrd1 |
A |
T |
5: 129,209,809 (GRCm39) |
N279Y |
probably damaging |
Het |
Aplp2 |
C |
A |
9: 31,089,379 (GRCm39) |
|
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
B3gnt5 |
A |
G |
16: 19,588,360 (GRCm39) |
D193G |
probably damaging |
Het |
Cacng1 |
A |
G |
11: 107,595,145 (GRCm39) |
F144S |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,154,140 (GRCm39) |
D135V |
possibly damaging |
Het |
Dnm3 |
T |
A |
1: 162,183,001 (GRCm39) |
T105S |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,763,649 (GRCm39) |
I1228F |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,498,937 (GRCm39) |
D271G |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,908,433 (GRCm39) |
Y2523C |
probably damaging |
Het |
Fhl4 |
A |
G |
10: 84,934,035 (GRCm39) |
F249L |
probably damaging |
Het |
Gm17782 |
T |
C |
17: 36,472,958 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,425,502 (GRCm39) |
Y219H |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,128,138 (GRCm39) |
L328P |
probably benign |
Het |
Hspa12a |
T |
A |
19: 58,797,983 (GRCm39) |
Y245F |
probably benign |
Het |
Kbtbd12 |
T |
C |
6: 88,595,371 (GRCm39) |
Y153C |
probably damaging |
Het |
Kcnd2 |
A |
T |
6: 21,726,194 (GRCm39) |
R562S |
probably benign |
Het |
Lct |
T |
C |
1: 128,235,988 (GRCm39) |
S340G |
probably benign |
Het |
Mettl25 |
C |
A |
10: 105,662,185 (GRCm39) |
G262W |
probably damaging |
Het |
Optn |
T |
C |
2: 5,039,833 (GRCm39) |
E318G |
probably damaging |
Het |
Or8j3 |
A |
T |
2: 86,028,363 (GRCm39) |
H244Q |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,148,768 (GRCm39) |
S443P |
probably benign |
Het |
Parva |
A |
G |
7: 112,175,646 (GRCm39) |
D259G |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,448,269 (GRCm39) |
L3816Q |
probably damaging |
Het |
Polq |
T |
C |
16: 36,880,737 (GRCm39) |
F967S |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,425,334 (GRCm39) |
N817S |
probably damaging |
Het |
Ptprt |
C |
A |
2: 161,449,372 (GRCm39) |
|
probably benign |
Het |
Rbbp8nl |
T |
A |
2: 179,923,236 (GRCm39) |
S154C |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,640,122 (GRCm39) |
I169V |
probably damaging |
Het |
Smyd4 |
G |
T |
11: 75,280,890 (GRCm39) |
|
probably benign |
Het |
Tial1 |
A |
G |
7: 128,045,607 (GRCm39) |
Y326H |
probably benign |
Het |
Tmem198b |
A |
G |
10: 128,638,320 (GRCm39) |
L81P |
probably damaging |
Het |
Tmem94 |
T |
A |
11: 115,687,227 (GRCm39) |
C1115* |
probably null |
Het |
Tns3 |
A |
G |
11: 8,387,141 (GRCm39) |
S1349P |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,376,395 (GRCm39) |
|
probably null |
Het |
Zfp119b |
T |
C |
17: 56,246,793 (GRCm39) |
E99G |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,012,986 (GRCm39) |
C503S |
probably damaging |
Het |
Zfyve19 |
G |
A |
2: 119,042,496 (GRCm39) |
|
probably null |
Het |
Zxdc |
G |
T |
6: 90,359,352 (GRCm39) |
K661N |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |