Incidental Mutation 'R4031:Mindy3'
| ID |
368239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mindy3
|
| Ensembl Gene |
ENSMUSG00000026767 |
| Gene Name |
MINDY lysine 48 deubiquitinase 3 |
| Synonyms |
1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a |
| MMRRC Submission |
040960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4031 (G1)
|
| Quality Score |
22 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
12352074-12424281 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 12405894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028105]
[ENSMUST00000124515]
[ENSMUST00000124515]
[ENSMUST00000124603]
[ENSMUST00000129489]
[ENSMUST00000129993]
[ENSMUST00000151529]
[ENSMUST00000144645]
[ENSMUST00000154899]
[ENSMUST00000155530]
|
| AlphaFold |
Q9CV28 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028105
|
| SMART Domains |
Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
9 |
351 |
1.48e-165 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124515
|
| SMART Domains |
Protein: ENSMUSP00000120193
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4205
|
9 |
94 |
1e-46 |
BLAST |
|
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000129348
|
| SMART Domains |
Protein: ENSMUSP00000121265
Gene: ENSMUSG00000026767
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4205
|
3 |
160 |
3.65e-19 |
SMART |
|
| Predicted Effect |
probably null
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 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 |
probably benign
Transcript: ENSMUST00000151529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194533
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
95% (52/55) |
| 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 |
|---|
| Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
| Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
| Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
| Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
| Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Ccdc150 |
T |
A |
1: 54,317,970 (GRCm39) |
M303K |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
| Elf1 |
A |
C |
14: 79,806,723 (GRCm39) |
K161Q |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
| Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
| Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
| Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
| Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
| Polr1e |
A |
T |
4: 45,018,685 (GRCm39) |
E5V |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
| Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,280,736 (GRCm39) |
I272T |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
| Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,483 (GRCm39) |
V679I |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
| Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
| Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
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 |
|
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 |
|
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'- CTCGTGTCTAAGTTAAGAAGTGC -3'
(R):5'- CAGAGATGTTCGTTACTTAGTAACCC -3'
Sequencing Primer
(F):5'- TGCTATGTATATCTAGGGATCTTTCC -3'
(R):5'- AGTAACCCTTCTGTGTTCTCAG -3'
|
| Posted On |
2016-01-08 |
Incidental Mutation