Incidental Mutation 'IGL00571:Nacc2'
ID7258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nacc2
Ensembl Gene ENSMUSG00000026932
Gene Namenucleus accumbens associated 2, BEN and BTB (POZ) domain containing
Synonyms0610020I02Rik, C030048H19Rik, Btbd14a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00571
Quality Score
Status
Chromosome2
Chromosomal Location26055535-26123220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26089690 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 245 (T245A)
Ref Sequence ENSEMBL: ENSMUSP00000109796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028300] [ENSMUST00000114159] [ENSMUST00000140993]
Predicted Effect probably benign
Transcript: ENSMUST00000028300
AA Change: T245A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: T245A

DomainStartEndE-ValueType
BTB 30 124 8.41e-23 SMART
low complexity region 198 213 N/A INTRINSIC
low complexity region 264 271 N/A INTRINSIC
BEN 371 449 4.33e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114159
AA Change: T245A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: T245A

DomainStartEndE-ValueType
BTB 30 124 8.41e-23 SMART
low complexity region 198 213 N/A INTRINSIC
low complexity region 264 271 N/A INTRINSIC
BEN 371 449 4.33e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133212
Predicted Effect probably benign
Transcript: ENSMUST00000140993
SMART Domains Protein: ENSMUSP00000120198
Gene: ENSMUSG00000026932

DomainStartEndE-ValueType
Pfam:BTB 20 85 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152133
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7420426K07Rik A C 9: 98,903,686 T135P possibly damaging Het
Abr T G 11: 76,468,740 S180R probably benign Het
Atrn G T 2: 130,995,048 R1144L probably damaging Het
Dsc1 G T 18: 20,110,138 S86Y probably damaging Het
Ets2 C A 16: 95,712,141 N120K probably benign Het
Fas A T 19: 34,318,618 T154S probably damaging Het
Fbxo41 T C 6: 85,478,102 probably null Het
Fzd8 A T 18: 9,213,068 Y50F unknown Het
Hmcn1 C T 1: 150,638,999 V3541I probably benign Het
Il6st G A 13: 112,487,860 V215M probably damaging Het
Kif13b G A 14: 64,746,417 V581M probably damaging Het
Liph A G 16: 21,968,140 F242S probably damaging Het
Nlrp1b C T 11: 71,163,973 D889N probably null Het
Parp4 T A 14: 56,647,353 S1296R unknown Het
Sec24a G A 11: 51,736,504 Q194* probably null Het
Slco6c1 T C 1: 97,087,951 N372D probably benign Het
Sprr2a3 T A 3: 92,288,767 Y60* probably null Het
Tdrd6 T A 17: 43,628,160 I666F probably damaging Het
Tlr1 T C 5: 64,926,434 I267V probably benign Het
Tmtc2 A G 10: 105,321,446 I633T possibly damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Uspl1 A G 5: 149,188,360 K26E probably damaging Het
Zfp639 A G 3: 32,519,919 D231G probably damaging Het
Other mutations in Nacc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Nacc2 APN 2 26061666 missense probably damaging 1.00
IGL02122:Nacc2 APN 2 26089948 missense probably benign 0.04
IGL02836:Nacc2 APN 2 26090317 missense probably damaging 1.00
IGL03355:Nacc2 APN 2 26062237 missense probably damaging 1.00
R0239:Nacc2 UTSW 2 26062261 missense probably damaging 1.00
R0239:Nacc2 UTSW 2 26062261 missense probably damaging 1.00
R0326:Nacc2 UTSW 2 26060333 missense probably damaging 1.00
R0553:Nacc2 UTSW 2 26089590 missense possibly damaging 0.75
R1743:Nacc2 UTSW 2 26060143 missense probably benign
R2172:Nacc2 UTSW 2 26060223 missense probably benign 0.00
R2497:Nacc2 UTSW 2 26089568 nonsense probably null
R4027:Nacc2 UTSW 2 26060336 missense probably benign 0.11
R4724:Nacc2 UTSW 2 26090173 missense probably damaging 1.00
R5045:Nacc2 UTSW 2 26090138 synonymous probably null
R5151:Nacc2 UTSW 2 26090353 missense probably damaging 1.00
R5198:Nacc2 UTSW 2 26060334 missense probably benign 0.22
R5905:Nacc2 UTSW 2 26061578 missense probably damaging 1.00
R6028:Nacc2 UTSW 2 26061578 missense probably damaging 1.00
R6257:Nacc2 UTSW 2 26060408 missense probably damaging 1.00
R6924:Nacc2 UTSW 2 26090029 missense probably damaging 0.97
Posted On2012-04-20