Incidental Mutation 'R6587:Mindy3'
ID 524455
Institutional Source Beutler Lab
Gene Symbol Mindy3
Ensembl Gene ENSMUSG00000026767
Gene Name MINDY lysine 48 deubiquitinase 3
Synonyms 1810041E18Rik, 2310047O13Rik, 5830410F13Rik, Fam188a
MMRRC Submission 044711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6587 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 12352074-12424281 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 12352927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 425 (Q425*)
Ref Sequence ENSEMBL: ENSMUSP00000028105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028105] [ENSMUST00000124603] [ENSMUST00000129489] [ENSMUST00000144645] [ENSMUST00000154899] [ENSMUST00000155530]
AlphaFold Q9CV28
Predicted Effect probably null
Transcript: ENSMUST00000028105
AA Change: Q425*
SMART Domains Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: Q425*

DomainStartEndE-ValueType
DUF4205 9 351 1.48e-165 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124603
SMART Domains Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 11 79 8.3e-12 PFAM
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 benign
Transcript: ENSMUST00000135397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137082
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
Predicted Effect probably benign
Transcript: ENSMUST00000155530
SMART Domains Protein: ENSMUSP00000116939
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 9 135 6.24e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194533
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 2: 25,162,550 (GRCm39) probably benign Het
Ank3 G T 10: 69,825,982 (GRCm39) probably benign Het
Ano3 C A 2: 110,628,249 (GRCm39) probably null Het
Arhgap39 A G 15: 76,621,699 (GRCm39) S301P probably damaging Het
Atad2 G T 15: 57,984,444 (GRCm39) Q295K probably benign Het
Camkmt T C 17: 85,421,243 (GRCm39) V115A possibly damaging Het
Cenpf T C 1: 189,390,571 (GRCm39) E1087G probably damaging Het
Cfhr2 T A 1: 139,738,596 (GRCm39) I322F probably benign Het
Chil6 T C 3: 106,312,197 (GRCm39) M35V probably benign Het
Cyp3a44 T C 5: 145,742,569 (GRCm39) T11A probably benign Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Ghitm A T 14: 36,847,146 (GRCm39) Y309* probably null Het
Klhl18 T C 9: 110,284,494 (GRCm39) H64R probably damaging Het
Krt78 T C 15: 101,860,704 (GRCm39) K201R probably benign Het
Lpar3 T C 3: 145,946,918 (GRCm39) F199L probably damaging Het
Or5b114-ps1 A T 19: 13,352,977 (GRCm39) Y217F unknown Het
P2rx7 A C 5: 122,802,613 (GRCm39) N207T probably damaging Het
Pcdhb7 T G 18: 37,477,156 (GRCm39) L764R probably benign Het
Pgap6 G A 17: 26,340,538 (GRCm39) V641I probably benign Het
Sbf2 T C 7: 110,040,182 (GRCm39) Y378C probably damaging Het
Slc23a2 C T 2: 131,920,401 (GRCm39) S168N possibly damaging Het
Tmem260 A G 14: 48,733,913 (GRCm39) probably null Het
Tmprss15 T G 16: 78,868,317 (GRCm39) L198F probably benign Het
Tulp4 C T 17: 6,282,146 (GRCm39) T725I possibly damaging Het
Tut4 C A 4: 108,336,646 (GRCm39) N123K probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zp3 A G 5: 136,016,352 (GRCm39) D318G possibly 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
R6518:Mindy3 UTSW 2 12,386,940 (GRCm39) missense probably damaging 1.00
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'- AAATGCACTTGCCTGTGACG -3'

Sequencing Primer
(F):5'- CAGAAGCGATGAACTTTAATTAAAGC -3'
(R):5'- CCTGTGACGTTGTCTGTAGCTAC -3'
Posted On 2018-06-22