Incidental Mutation 'IGL02266:Rnpepl1'
ID286886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnpepl1
Ensembl Gene ENSMUSG00000026269
Gene Namearginyl aminopeptidase (aminopeptidase B)-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL02266
Quality Score
Status
Chromosome1
Chromosomal Location92910783-92924384 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92916889 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 368 (W368R)
Ref Sequence ENSEMBL: ENSMUSP00000027487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]
Predicted Effect probably damaging
Transcript: ENSMUST00000027487
AA Change: W368R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: W368R

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
Pfam:Peptidase_M1 36 440 3e-58 PFAM
Leuk-A4-hydro_C 523 668 1.31e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178116
SMART Domains Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269

DomainStartEndE-ValueType
Pfam:Peptidase_M1 5 170 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178816
Predicted Effect unknown
Transcript: ENSMUST00000179127
AA Change: W33R
Predicted Effect probably benign
Transcript: ENSMUST00000179531
Predicted Effect probably benign
Transcript: ENSMUST00000179837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179854
Predicted Effect probably benign
Transcript: ENSMUST00000179993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,268,201 Q1974* probably null Het
Actl11 G T 9: 107,931,183 V902L possibly damaging Het
Adam11 T C 11: 102,772,667 V274A probably damaging Het
Akr1b8 A G 6: 34,354,273 I15V probably benign Het
Chrm3 T A 13: 9,877,278 Q574L probably damaging Het
Crk C A 11: 75,679,589 R16S probably damaging Het
Ep400 T C 5: 110,695,297 probably benign Het
Eya1 T C 1: 14,184,501 N369S possibly damaging Het
Fam220a T C 5: 143,563,571 V246A possibly damaging Het
Fastkd5 A T 2: 130,615,561 F370I probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gpr75 A C 11: 30,891,977 Q294P probably benign Het
Hspg2 T C 4: 137,510,577 F204L probably damaging Het
Lrrc8c A C 5: 105,608,248 I630L probably benign Het
Narfl T A 17: 25,780,326 I238N possibly damaging Het
Nlrc4 T C 17: 74,446,167 D407G possibly damaging Het
Olfr1054 T A 2: 86,332,979 I126F probably damaging Het
Olfr1314 G A 2: 112,092,243 L153F probably benign Het
Pank1 A C 19: 34,813,686 probably benign Het
Pde3b A G 7: 114,526,966 T812A probably damaging Het
Phtf2 T G 5: 20,805,799 K63Q probably damaging Het
Pkhd1l1 A T 15: 44,573,614 H3456L probably damaging Het
Plcd1 A G 9: 119,074,787 probably benign Het
Ppip5k2 C T 1: 97,733,972 V734I possibly damaging Het
Ppp2r2d A G 7: 138,868,437 N38S probably damaging Het
Sidt1 T C 16: 44,254,985 D670G possibly damaging Het
Slc12a2 T A 18: 57,912,020 probably benign Het
Tekt5 A T 16: 10,379,042 I315N probably benign Het
Trappc11 A C 8: 47,505,731 C42G probably damaging Het
Trerf1 C T 17: 47,315,405 noncoding transcript Het
Ubqlnl C A 7: 104,149,547 E248* probably null Het
Ulk4 G T 9: 121,081,700 T1086K probably benign Het
Unc45a A T 7: 80,328,486 D680E probably damaging Het
Vmn2r107 T C 17: 20,356,777 Y346H probably damaging Het
Vmn2r73 A G 7: 85,875,799 I47T possibly damaging Het
Zbtb9 T C 17: 26,974,155 V178A probably benign Het
Zc3hav1 A T 6: 38,332,168 M573K probably benign Het
Zfp608 T C 18: 54,897,581 T1096A probably benign Het
Other mutations in Rnpepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Rnpepl1 APN 1 92915899 missense possibly damaging 0.69
IGL01291:Rnpepl1 APN 1 92919746 missense probably benign
IGL02481:Rnpepl1 APN 1 92915907 missense probably damaging 1.00
IGL02483:Rnpepl1 APN 1 92915907 missense probably damaging 1.00
IGL03377:Rnpepl1 APN 1 92919231 missense probably benign 0.01
ANU05:Rnpepl1 UTSW 1 92919746 missense probably benign
R0069:Rnpepl1 UTSW 1 92918898 missense possibly damaging 0.91
R0409:Rnpepl1 UTSW 1 92915860 missense probably damaging 1.00
R0479:Rnpepl1 UTSW 1 92918865 unclassified probably benign
R1155:Rnpepl1 UTSW 1 92916887 missense probably damaging 1.00
R1170:Rnpepl1 UTSW 1 92919195 missense possibly damaging 0.56
R1397:Rnpepl1 UTSW 1 92917159 missense probably damaging 1.00
R1601:Rnpepl1 UTSW 1 92917222 missense possibly damaging 0.95
R2184:Rnpepl1 UTSW 1 92916823 missense probably benign 0.43
R2187:Rnpepl1 UTSW 1 92916895 missense probably null 1.00
R2211:Rnpepl1 UTSW 1 92916380 missense probably damaging 1.00
R2902:Rnpepl1 UTSW 1 92916380 missense probably damaging 1.00
R3105:Rnpepl1 UTSW 1 92916380 missense probably damaging 1.00
R3196:Rnpepl1 UTSW 1 92917159 missense probably damaging 1.00
R3439:Rnpepl1 UTSW 1 92916940 missense possibly damaging 0.94
R4887:Rnpepl1 UTSW 1 92915113 missense probably damaging 1.00
R4966:Rnpepl1 UTSW 1 92916761 missense probably damaging 1.00
R5212:Rnpepl1 UTSW 1 92911323 missense probably benign 0.03
R5214:Rnpepl1 UTSW 1 92919279 missense probably benign 0.01
R5385:Rnpepl1 UTSW 1 92917192 missense probably damaging 1.00
R5655:Rnpepl1 UTSW 1 92919310 missense probably damaging 1.00
R5694:Rnpepl1 UTSW 1 92918941 missense probably benign 0.03
R5940:Rnpepl1 UTSW 1 92917712 missense probably damaging 1.00
R6046:Rnpepl1 UTSW 1 92916821 missense probably damaging 1.00
R6086:Rnpepl1 UTSW 1 92917681 missense probably damaging 1.00
R6104:Rnpepl1 UTSW 1 92915884 missense probably benign
R6349:Rnpepl1 UTSW 1 92919841 missense probably damaging 1.00
Posted On2015-04-16