Incidental Mutation 'IGL02025:Naa25'
ID184134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naa25
Ensembl Gene ENSMUSG00000042719
Gene NameN(alpha)-acetyltransferase 25, NatB auxiliary subunit
SynonymsC330023M02Rik, 4833422K13Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02025
Quality Score
Status
Chromosome5
Chromosomal Location121397936-121444378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121439865 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 945 (V945A)
Ref Sequence ENSEMBL: ENSMUSP00000038977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042163] [ENSMUST00000052590] [ENSMUST00000130451] [ENSMUST00000151458] [ENSMUST00000153758] [ENSMUST00000173895]
Predicted Effect probably damaging
Transcript: ENSMUST00000042163
AA Change: V945A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: V945A

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Pfam:NatB_MDM20 263 658 1.6e-121 PFAM
low complexity region 672 683 N/A INTRINSIC
low complexity region 687 700 N/A INTRINSIC
low complexity region 721 734 N/A INTRINSIC
low complexity region 915 935 N/A INTRINSIC
low complexity region 958 971 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052590
SMART Domains Protein: ENSMUSP00000059275
Gene: ENSMUSG00000029616

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
SCOP:d1g7ea_ 35 52 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130451
SMART Domains Protein: ENSMUSP00000117347
Gene: ENSMUSG00000029616

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:ERp29_N 35 157 9.3e-61 PFAM
Pfam:ERp29 158 252 7.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151458
SMART Domains Protein: ENSMUSP00000120970
Gene: ENSMUSG00000042719

DomainStartEndE-ValueType
SCOP:d1a17__ 21 94 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153758
SMART Domains Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
SCOP:d1g7ea_ 35 55 3e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172908
AA Change: V34A
SMART Domains Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719
AA Change: V34A

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174322
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,733,699 probably benign Het
Akap6 A G 12: 53,140,335 T1511A probably benign Het
Casp8 A C 1: 58,824,147 I69L possibly damaging Het
Cdh23 T C 10: 60,385,143 E1274G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Depdc5 A G 5: 32,946,632 probably null Het
Dock5 A G 14: 67,763,287 S1656P probably damaging Het
Dock6 A G 9: 21,809,589 S1707P probably damaging Het
Eddm3b T A 14: 51,116,771 V72D probably damaging Het
Etl4 A G 2: 20,806,526 D1508G probably damaging Het
Gm20489 A C X: 101,263,684 V21G probably damaging Het
Gm7173 A T X: 79,510,430 S230R probably benign Het
Il16 T C 7: 83,652,848 N22S probably damaging Het
Ksr1 T C 11: 79,021,450 probably null Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Neb T C 2: 52,307,739 T501A probably benign Het
Npnt A C 3: 132,890,762 probably null Het
Nr1h5 G A 3: 102,949,626 probably benign Het
Olfr12 A G 1: 92,620,547 I214V probably benign Het
Olfr1331 G A 4: 118,869,165 C127Y probably damaging Het
Olfr1361 A G 13: 21,659,263 V20A possibly damaging Het
Opalin T C 19: 41,072,235 probably benign Het
Pls3 A T X: 75,796,495 L341H probably damaging Het
Pnp2 T A 14: 50,959,553 L32H probably damaging Het
Prpf40b T C 15: 99,314,588 F571S probably damaging Het
Prss16 A G 13: 22,003,021 S460P probably damaging Het
Sh3bp4 T C 1: 89,145,286 S619P probably benign Het
Sirpb1b C T 3: 15,548,803 R73Q probably damaging Het
Slc22a8 G A 19: 8,594,175 G90E possibly damaging Het
Tbc1d2 G A 4: 46,620,713 R366W probably damaging Het
Tns2 T A 15: 102,112,049 Y783* probably null Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp7 C T 15: 76,888,264 S55F probably damaging Het
Other mutations in Naa25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Naa25 APN 5 121426762 missense possibly damaging 0.52
IGL02541:Naa25 APN 5 121424531 missense possibly damaging 0.92
IGL02747:Naa25 APN 5 121414605 splice site probably benign
IGL03074:Naa25 APN 5 121408337 critical splice donor site probably null
IGL03119:Naa25 APN 5 121434978 missense probably null 1.00
IGL03218:Naa25 APN 5 121426070 missense probably damaging 1.00
R0003:Naa25 UTSW 5 121407184 intron probably benign
R0022:Naa25 UTSW 5 121417976 missense probably damaging 1.00
R0022:Naa25 UTSW 5 121417976 missense probably damaging 1.00
R0102:Naa25 UTSW 5 121435569 missense possibly damaging 0.69
R0102:Naa25 UTSW 5 121435569 missense possibly damaging 0.69
R0399:Naa25 UTSW 5 121435490 missense probably benign 0.00
R0973:Naa25 UTSW 5 121438716 splice site probably benign
R1418:Naa25 UTSW 5 121423734 missense probably damaging 1.00
R1582:Naa25 UTSW 5 121434829 missense probably benign
R1793:Naa25 UTSW 5 121417415 missense possibly damaging 0.82
R1793:Naa25 UTSW 5 121420593 missense probably damaging 1.00
R1863:Naa25 UTSW 5 121435548 missense probably benign 0.00
R3160:Naa25 UTSW 5 121435072 splice site probably null
R3162:Naa25 UTSW 5 121435072 splice site probably null
R3721:Naa25 UTSW 5 121431556 missense probably benign
R3864:Naa25 UTSW 5 121409197 missense probably damaging 0.96
R4852:Naa25 UTSW 5 121430692 missense probably damaging 1.00
R5077:Naa25 UTSW 5 121424576 missense probably benign 0.02
R5602:Naa25 UTSW 5 121420495 missense probably benign 0.30
R5855:Naa25 UTSW 5 121423692 missense possibly damaging 0.94
R6464:Naa25 UTSW 5 121417961 missense probably damaging 1.00
R6734:Naa25 UTSW 5 121438825 missense possibly damaging 0.65
R6750:Naa25 UTSW 5 121408309 missense probably damaging 1.00
R6767:Naa25 UTSW 5 121439865 missense probably damaging 1.00
R6856:Naa25 UTSW 5 121438804 missense probably damaging 1.00
R7145:Naa25 UTSW 5 121417489 critical splice donor site probably null
X0004:Naa25 UTSW 5 121413081 missense probably damaging 1.00
Posted On2014-05-07