Incidental Mutation 'R6518:Mindy3'
ID |
520845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mindy3
|
Ensembl Gene |
ENSMUSG00000026767 |
Gene Name |
MINDY lysine 48 deubiquitinase 3 |
Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
MMRRC Submission |
044645-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R6518 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12386940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000129993]
[ENSMUST00000155530]
[ENSMUST00000144645]
[ENSMUST00000154899]
|
AlphaFold |
Q9CV28 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028105
AA Change: T285A
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028105 Gene: ENSMUSG00000026767 AA Change: T285A
Domain | Start | End | E-Value | Type |
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124603
AA Change: T121A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000117457 Gene: ENSMUSG00000026767 AA Change: T121A
Domain | Start | End | E-Value | Type |
Pfam:DUF4205
|
11 |
79 |
8.3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129348
|
SMART Domains |
Protein: ENSMUSP00000121265 Gene: ENSMUSG00000026767
Domain | Start | End | E-Value | Type |
DUF4205
|
3 |
160 |
3.65e-19 |
SMART |
|
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 damaging
Transcript: ENSMUST00000129993
AA Change: T74A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141479 Gene: ENSMUSG00000026767 AA Change: T74A
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 |
noncoding transcript
Transcript: ENSMUST00000194533
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
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: 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 |
|
Meta Mutation Damage Score |
0.6547 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
Validation Efficiency |
98% (48/49) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
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 |
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'- GAGCAAAGCAACAGTGTTTTCTG -3'
(R):5'- ACAGGTCCTGTCTGCACTTAC -3'
Sequencing Primer
(F):5'- GCAAAGCAACAGTGTTTTCTGTAGTG -3'
(R):5'- GCACTTACCATCTAACCTCTGTGG -3'
|
Posted On |
2018-06-06 |