Incidental Mutation 'R2250:Mindy4'
ID 240821
Institutional Source Beutler Lab
Gene Symbol Mindy4
Ensembl Gene ENSMUSG00000038022
Gene Name MINDY lysine 48 deubiquitinase 4
Synonyms Fam188b, C330043M08Rik, LOC384387
MMRRC Submission 040250-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2250 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 55180368-55297207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55277934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 593 (V593I)
Ref Sequence ENSEMBL: ENSMUSP00000061221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053094]
AlphaFold Q3UQI9
Predicted Effect probably damaging
Transcript: ENSMUST00000053094
AA Change: V593I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: V593I

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 224 240 N/A INTRINSIC
low complexity region 265 277 N/A INTRINSIC
DUF4205 403 739 1.47e-187 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204173
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A G 11: 76,342,765 (GRCm39) C532R probably damaging Het
Edem2 A C 2: 155,552,893 (GRCm39) probably null Het
Hhatl A G 9: 121,617,237 (GRCm39) V332A possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irf2bp1 G T 7: 18,739,724 (GRCm39) A455S probably benign Het
Lyg2 G A 1: 37,954,816 (GRCm39) L10F probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nectin3 A T 16: 46,275,099 (GRCm39) D319E probably benign Het
Or52e2 C A 7: 102,804,157 (GRCm39) G266C probably damaging Het
Or6b9 T A 7: 106,555,580 (GRCm39) M188L probably benign Het
Plcb4 G A 2: 135,813,781 (GRCm39) probably null Het
Prkd3 T C 17: 79,275,507 (GRCm39) T446A probably benign Het
Scn11a T A 9: 119,587,668 (GRCm39) T1359S probably benign Het
Skp1 T C 11: 52,134,446 (GRCm39) I59T possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spta1 A G 1: 174,071,680 (GRCm39) E2220G probably damaging Het
Strn4 A G 7: 16,560,391 (GRCm39) Y181C probably damaging Het
Vmn1r119 A T 7: 20,746,184 (GRCm39) L66H probably damaging Het
Other mutations in Mindy4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Mindy4 APN 6 55,261,727 (GRCm39) splice site probably benign
IGL01483:Mindy4 APN 6 55,193,670 (GRCm39) missense probably damaging 1.00
IGL01721:Mindy4 APN 6 55,200,984 (GRCm39) missense probably damaging 1.00
IGL01965:Mindy4 APN 6 55,237,517 (GRCm39) splice site probably benign
IGL02214:Mindy4 APN 6 55,193,636 (GRCm39) missense possibly damaging 0.88
IGL03058:Mindy4 APN 6 55,285,183 (GRCm39) missense probably damaging 1.00
IGL03077:Mindy4 APN 6 55,286,315 (GRCm39) missense probably damaging 1.00
IGL03296:Mindy4 APN 6 55,274,738 (GRCm39) critical splice donor site probably null
R0383:Mindy4 UTSW 6 55,253,619 (GRCm39) missense probably benign 0.00
R0384:Mindy4 UTSW 6 55,193,669 (GRCm39) missense probably damaging 1.00
R0636:Mindy4 UTSW 6 55,253,570 (GRCm39) missense possibly damaging 0.73
R0848:Mindy4 UTSW 6 55,295,271 (GRCm39) nonsense probably null
R1171:Mindy4 UTSW 6 55,232,601 (GRCm39) missense possibly damaging 0.75
R1210:Mindy4 UTSW 6 55,261,798 (GRCm39) missense possibly damaging 0.92
R1341:Mindy4 UTSW 6 55,232,601 (GRCm39) missense probably benign 0.00
R2030:Mindy4 UTSW 6 55,188,247 (GRCm39) missense probably damaging 1.00
R2127:Mindy4 UTSW 6 55,195,250 (GRCm39) missense probably benign 0.05
R2237:Mindy4 UTSW 6 55,278,055 (GRCm39) missense probably damaging 1.00
R2238:Mindy4 UTSW 6 55,278,055 (GRCm39) missense probably damaging 1.00
R2571:Mindy4 UTSW 6 55,261,770 (GRCm39) missense probably damaging 1.00
R2846:Mindy4 UTSW 6 55,255,085 (GRCm39) missense probably damaging 1.00
R3001:Mindy4 UTSW 6 55,195,349 (GRCm39) missense probably benign 0.21
R3002:Mindy4 UTSW 6 55,195,349 (GRCm39) missense probably benign 0.21
R3498:Mindy4 UTSW 6 55,193,510 (GRCm39) missense probably benign 0.01
R4167:Mindy4 UTSW 6 55,201,331 (GRCm39) missense possibly damaging 0.93
R4767:Mindy4 UTSW 6 55,237,550 (GRCm39) missense probably damaging 0.98
R4812:Mindy4 UTSW 6 55,256,088 (GRCm39) missense possibly damaging 0.64
R5109:Mindy4 UTSW 6 55,193,730 (GRCm39) splice site probably null
R5203:Mindy4 UTSW 6 55,232,646 (GRCm39) missense probably benign 0.00
R5221:Mindy4 UTSW 6 55,201,092 (GRCm39) missense probably benign
R5628:Mindy4 UTSW 6 55,237,579 (GRCm39) missense probably damaging 0.98
R6265:Mindy4 UTSW 6 55,278,049 (GRCm39) missense probably damaging 0.99
R6596:Mindy4 UTSW 6 55,201,001 (GRCm39) missense probably damaging 0.99
R7084:Mindy4 UTSW 6 55,255,220 (GRCm39) missense probably benign
R7350:Mindy4 UTSW 6 55,278,010 (GRCm39) missense probably damaging 0.97
R7535:Mindy4 UTSW 6 55,274,738 (GRCm39) critical splice donor site probably null
R7625:Mindy4 UTSW 6 55,253,598 (GRCm39) missense possibly damaging 0.95
R8052:Mindy4 UTSW 6 55,277,977 (GRCm39) missense probably damaging 0.99
R8727:Mindy4 UTSW 6 55,256,055 (GRCm39) unclassified probably benign
R8884:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8886:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8890:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8892:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8893:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8894:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8896:Mindy4 UTSW 6 55,255,223 (GRCm39) missense probably benign 0.00
R8932:Mindy4 UTSW 6 55,201,115 (GRCm39) missense probably benign
R9018:Mindy4 UTSW 6 55,278,072 (GRCm39) missense possibly damaging 0.91
R9045:Mindy4 UTSW 6 55,295,283 (GRCm39) missense probably benign 0.16
R9185:Mindy4 UTSW 6 55,295,261 (GRCm39) missense possibly damaging 0.88
X0065:Mindy4 UTSW 6 55,239,801 (GRCm39) missense probably damaging 0.99
Z1177:Mindy4 UTSW 6 55,201,326 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GAAGCAGTTGGTAGATTTCTCCC -3'
(R):5'- AGAATAAGGTCGCTGGGGTTC -3'

Sequencing Primer
(F):5'- GGTAGATTTCTCCCAACAGAGCCTG -3'
(R):5'- CTGGAGTGCCTTTGGGTAC -3'
Posted On 2014-10-15