Incidental Mutation 'R0102:Naaladl1'
ID 16247
Institutional Source Beutler Lab
Gene Symbol Naaladl1
Ensembl Gene ENSMUSG00000054999
Gene Name N-acetylated alpha-linked acidic dipeptidase-like 1
Synonyms LOC381204
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 6155812-6165822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6162534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 465 (P465S)
Ref Sequence ENSEMBL: ENSMUSP00000044231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044451] [ENSMUST00000113533]
AlphaFold Q7M758
Predicted Effect probably damaging
Transcript: ENSMUST00000044451
AA Change: P465S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
AA Change: P465S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
Pfam:PA 163 256 3e-12 PFAM
Pfam:Peptidase_M28 353 564 1.3e-22 PFAM
low complexity region 579 592 N/A INTRINSIC
Pfam:TFR_dimer 621 740 4.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113533
SMART Domains Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Pfam:SAC3_GANP 134 356 7.6e-50 PFAM
Meta Mutation Damage Score 0.2650 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A probably damaging Het
Other mutations in Naaladl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Naaladl1 APN 19 6,159,661 (GRCm39) splice site probably null
IGL01905:Naaladl1 APN 19 6,165,577 (GRCm39) missense possibly damaging 0.79
IGL02491:Naaladl1 APN 19 6,159,748 (GRCm39) missense possibly damaging 0.82
IGL03135:Naaladl1 APN 19 6,162,386 (GRCm39) missense probably benign 0.06
IGL03143:Naaladl1 APN 19 6,164,896 (GRCm39) missense possibly damaging 0.79
IGL03340:Naaladl1 APN 19 6,156,229 (GRCm39) missense possibly damaging 0.63
PIT4466001:Naaladl1 UTSW 19 6,164,663 (GRCm39) missense possibly damaging 0.89
R0102:Naaladl1 UTSW 19 6,162,534 (GRCm39) missense probably damaging 1.00
R0734:Naaladl1 UTSW 19 6,162,904 (GRCm39) critical splice acceptor site probably null
R2291:Naaladl1 UTSW 19 6,156,225 (GRCm39) missense probably benign
R3805:Naaladl1 UTSW 19 6,164,895 (GRCm39) missense probably benign 0.00
R4414:Naaladl1 UTSW 19 6,165,581 (GRCm39) missense probably damaging 1.00
R4694:Naaladl1 UTSW 19 6,158,920 (GRCm39) missense probably damaging 1.00
R5819:Naaladl1 UTSW 19 6,159,684 (GRCm39) missense possibly damaging 0.83
R6103:Naaladl1 UTSW 19 6,158,743 (GRCm39) missense probably damaging 0.99
R6141:Naaladl1 UTSW 19 6,159,785 (GRCm39) critical splice donor site probably null
R6896:Naaladl1 UTSW 19 6,159,335 (GRCm39) splice site probably null
R6950:Naaladl1 UTSW 19 6,156,011 (GRCm39) missense probably damaging 1.00
R6995:Naaladl1 UTSW 19 6,165,578 (GRCm39) missense possibly damaging 0.79
R7130:Naaladl1 UTSW 19 6,156,018 (GRCm39) missense probably benign 0.03
R7810:Naaladl1 UTSW 19 6,159,694 (GRCm39) missense probably damaging 1.00
R7972:Naaladl1 UTSW 19 6,156,274 (GRCm39) missense probably damaging 1.00
R8343:Naaladl1 UTSW 19 6,159,703 (GRCm39) missense possibly damaging 0.76
R8468:Naaladl1 UTSW 19 6,158,615 (GRCm39) missense probably damaging 1.00
R9004:Naaladl1 UTSW 19 6,155,965 (GRCm39) missense probably damaging 1.00
R9052:Naaladl1 UTSW 19 6,158,716 (GRCm39) missense probably benign 0.19
R9314:Naaladl1 UTSW 19 6,162,401 (GRCm39) missense probably damaging 1.00
R9390:Naaladl1 UTSW 19 6,162,725 (GRCm39) missense probably damaging 0.97
R9432:Naaladl1 UTSW 19 6,156,917 (GRCm39) missense possibly damaging 0.82
Posted On 2013-01-20