Incidental Mutation 'R4359:Mindy3'
| ID |
324784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12401020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 233
(W233R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124515]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000129993]
[ENSMUST00000151529]
[ENSMUST00000144645]
[ENSMUST00000154899]
[ENSMUST00000155530]
|
| AlphaFold |
Q9CV28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028105
AA Change: W233R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: W233R
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124515
|
| SMART Domains |
Protein: ENSMUSP00000120193
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4205
|
9 |
94 |
1e-46 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124603
|
| SMART Domains |
Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4205
|
11 |
79 |
8.3e-12 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129348
AA Change: W139R
|
| SMART Domains |
Protein: ENSMUSP00000121265
Gene: ENSMUSG00000026767
AA Change: W139R
| 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 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: ENSMUST00000130097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151529
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Cxcl16 |
C |
A |
11: 70,349,631 (GRCm39) |
V65L |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,609,300 (GRCm39) |
V768A |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,385,470 (GRCm39) |
W506* |
probably null |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
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 |
|
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'- CCTGCACTTAGTATTATGGCATC -3'
(R):5'- TGTAGCTCTCACTAAGGCCG -3'
Sequencing Primer
(F):5'- ATTATGGCATCTTAGAAACCGTAAG -3'
(R):5'- TCTCACTAAGGCCGGACATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation