Incidental Mutation 'R4089:Mindy3'
| ID |
317494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
040982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12369327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 84
(M84V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000129993]
[ENSMUST00000144645]
[ENSMUST00000155530]
[ENSMUST00000154899]
|
| AlphaFold |
Q9CV28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028105
AA Change: M295V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: M295V
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124603
AA Change: M131V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: M131V
| 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
AA Change: M84V
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141479
Gene: ENSMUSG00000026767
AA Change: M84V
| 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: ENSMUST00000194533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195758
|
| 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 |
0.0743 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
| Cbs |
A |
C |
17: 31,851,980 (GRCm39) |
C8G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
| Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
| Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
| Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
| Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,110,261 (GRCm39) |
E175D |
probably damaging |
Het |
| Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Trip4 |
A |
G |
9: 65,765,565 (GRCm39) |
V378A |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Washc2 |
A |
T |
6: 116,233,253 (GRCm39) |
|
probably null |
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 |
|
|
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'- CCATGGTCTGCTAGCTTTGC -3'
(R):5'- CTTGGAAAGTAAAGCTGGGCAC -3'
Sequencing Primer
(F):5'- GCTAGCTTTGCTGCTTGGTCTC -3'
(R):5'- CACTGGAGAGAGTTGGTGATTTCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation