Incidental Mutation 'R6518:Mindy3'
ID 520845
Institutional Source Beutler Lab
Gene Symbol Mindy3
Ensembl Gene ENSMUSG00000026767
Gene Name MINDY lysine 48 deubiquitinase 3
Synonyms 1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6518 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 12352074-12424281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12386940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 74 (T74A)
Ref Sequence ENSEMBL: ENSMUSP00000141479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028105] [ENSMUST00000124603] [ENSMUST00000129489] [ENSMUST00000129993] [ENSMUST00000155530] [ENSMUST00000144645] [ENSMUST00000154899]
AlphaFold Q9CV28
Predicted Effect possibly damaging
Transcript: ENSMUST00000028105
AA Change: T285A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: T285A

DomainStartEndE-ValueType
DUF4205 9 351 1.48e-165 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124603
AA Change: T121A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: T121A

DomainStartEndE-ValueType
Pfam:DUF4205 11 79 8.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129348
SMART Domains Protein: ENSMUSP00000121265
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 3 160 3.65e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129489
SMART Domains Protein: ENSMUSP00000122501
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 11 84 9.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129993
AA Change: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141479
Gene: ENSMUSG00000026767
AA Change: T74A

DomainStartEndE-ValueType
Pfam:DUF4205 3 87 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195084
Predicted Effect probably benign
Transcript: ENSMUST00000155530
SMART Domains Protein: ENSMUSP00000116939
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 9 135 6.24e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144645
SMART Domains Protein: ENSMUSP00000116836
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 11 87 3.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154899
SMART Domains Protein: ENSMUSP00000121476
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 1 110 6.61e-7 SMART
Meta Mutation Damage Score 0.6547 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cdkn1b T A 6: 134,898,283 (GRCm39) M134K probably benign Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lipt1 A G 1: 37,914,856 (GRCm39) N304S probably benign Het
Lmo1 A C 7: 108,742,783 (GRCm39) L39R probably damaging Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or11a4 G T 17: 37,536,159 (GRCm39) A48S probably benign Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Pias1 A G 9: 62,859,142 (GRCm39) L113P probably damaging Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R probably damaging Het
Other mutations in Mindy3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6330:Mindy3 UTSW 2 12,361,744 (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'- GAGCAAAGCAACAGTGTTTTCTG -3'
(R):5'- ACAGGTCCTGTCTGCACTTAC -3'

Sequencing Primer
(F):5'- GCAAAGCAACAGTGTTTTCTGTAGTG -3'
(R):5'- GCACTTACCATCTAACCTCTGTGG -3'
Posted On 2018-06-06