Incidental Mutation 'R6330:Mindy3'
| ID |
510842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
044484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12361744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 333
(A333T)
|
| 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: A333T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: A333T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124603
AA Change: A169T
|
| SMART Domains |
Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: A169T
| 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 |
noncoding transcript
Transcript: ENSMUST00000130225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135397
|
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195409
|
| Meta Mutation Damage Score |
0.1418 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
| Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
| Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
| Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
| Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
| Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
| Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
| Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
| Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
| Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
| Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
| Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
| Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly 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 |
|
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'- GGCAGATTAACTTCTGTCCTCAG -3'
(R):5'- CCATTTGCAGGTTTGTCAAGC -3'
Sequencing Primer
(F):5'- CTGTCCTCAGATTGGATTAGGTC -3'
(R):5'- CCAGGACCTGATCAGAAA -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation