Incidental Mutation 'R5926:Mindy3'
ID |
459872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mindy3
|
Ensembl Gene |
ENSMUSG00000026767 |
Gene Name |
MINDY lysine 48 deubiquitinase 3 |
Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
MMRRC Submission |
044121-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R5926 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12352911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 430
(Y430C)
|
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: Y430C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028105 Gene: ENSMUSG00000026767 AA Change: Y430C
Domain | Start | End | E-Value | Type |
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
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 |
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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000195084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194533
|
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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
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 |
A2ml1 |
T |
A |
6: 128,537,608 (GRCm39) |
Y701F |
probably benign |
Het |
Abra |
T |
A |
15: 41,729,650 (GRCm39) |
H250L |
probably damaging |
Het |
Acer2 |
T |
C |
4: 86,792,805 (GRCm39) |
V27A |
probably benign |
Het |
Arhgef15 |
A |
G |
11: 68,842,781 (GRCm39) |
L343S |
possibly damaging |
Het |
Arnt2 |
G |
T |
7: 83,993,154 (GRCm39) |
H129N |
probably damaging |
Het |
Atp9a |
T |
A |
2: 168,548,191 (GRCm39) |
Y63F |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,458,087 (GRCm39) |
T213A |
probably benign |
Het |
Cdk5r1 |
T |
C |
11: 80,369,128 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
C |
T |
9: 86,939,314 (GRCm39) |
L366F |
probably benign |
Het |
Cyp20a1 |
T |
A |
1: 60,402,401 (GRCm39) |
I162K |
possibly damaging |
Het |
Dcaf1 |
T |
C |
9: 106,715,561 (GRCm39) |
V226A |
probably benign |
Het |
Ddx41 |
A |
T |
13: 55,682,112 (GRCm39) |
M232K |
probably damaging |
Het |
Dnm1 |
C |
T |
2: 32,205,816 (GRCm39) |
V99I |
probably benign |
Het |
Doc2a |
T |
C |
7: 126,448,697 (GRCm39) |
V134A |
probably damaging |
Het |
Ghdc |
C |
T |
11: 100,659,063 (GRCm39) |
V380M |
possibly damaging |
Het |
Gldn |
A |
G |
9: 54,245,722 (GRCm39) |
I424M |
possibly damaging |
Het |
Haus6 |
A |
T |
4: 86,517,553 (GRCm39) |
H270Q |
probably benign |
Het |
Hfe |
A |
T |
13: 23,892,247 (GRCm39) |
M39K |
probably damaging |
Het |
Jakmip1 |
C |
T |
5: 37,242,624 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,383,235 (GRCm39) |
N187S |
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,217,084 (GRCm39) |
S263G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,385 (GRCm39) |
N481S |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,818,351 (GRCm39) |
I343V |
probably benign |
Het |
L3hypdh |
T |
A |
12: 72,123,959 (GRCm39) |
S300C |
probably damaging |
Het |
Lrit1 |
T |
A |
14: 36,776,966 (GRCm39) |
C29S |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,559,168 (GRCm39) |
V70E |
probably damaging |
Het |
Med16 |
C |
T |
10: 79,738,362 (GRCm39) |
V319M |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,751,286 (GRCm39) |
F121I |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Notch1 |
A |
G |
2: 26,366,116 (GRCm39) |
Y813H |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,312,794 (GRCm39) |
L66S |
probably damaging |
Het |
Or5p53 |
T |
C |
7: 107,533,110 (GRCm39) |
S128P |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,288 (GRCm39) |
L63Q |
probably damaging |
Het |
Pi4kb |
A |
G |
3: 94,906,307 (GRCm39) |
Y301C |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,692,869 (GRCm39) |
S244P |
probably benign |
Het |
Ptprn |
G |
A |
1: 75,231,242 (GRCm39) |
T554I |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,406,606 (GRCm39) |
I969V |
probably benign |
Het |
Raf1 |
T |
C |
6: 115,596,859 (GRCm39) |
M519V |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,803,785 (GRCm39) |
V622A |
probably damaging |
Het |
Spaca4 |
G |
T |
7: 45,374,719 (GRCm39) |
H94Q |
probably benign |
Het |
Spata31 |
A |
G |
13: 65,068,539 (GRCm39) |
D229G |
possibly damaging |
Het |
Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
Trpm8 |
T |
A |
1: 88,258,469 (GRCm39) |
Y251N |
probably damaging |
Het |
Vps16 |
T |
A |
2: 130,285,476 (GRCm39) |
N806K |
probably damaging |
Het |
Vwf |
T |
C |
6: 125,581,137 (GRCm39) |
F592L |
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 |
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'- TGACTGCAGAAGCGATGAAC -3'
(R):5'- CCTGTGACGTTGTCTGTAGC -3'
Sequencing Primer
(F):5'- CAGAAGCGATGAACTTTAATTAAAGC -3'
(R):5'- CTGTAGCTACGGAGAACTGGCTAC -3'
|
Posted On |
2017-02-28 |