Incidental Mutation 'IGL01737:N4bp2l1'
ID 105744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol N4bp2l1
Ensembl Gene ENSMUSG00000041132
Gene Name NEDD4 binding protein 2-like 1
Synonyms 2410024N18Rik, B230342M21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL01737
Quality Score
Status
Chromosome 5
Chromosomal Location 150495108-150518288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 150517781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 41 (H41N)
Ref Sequence ENSEMBL: ENSMUSP00000144439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016279] [ENSMUST00000200840] [ENSMUST00000201319] [ENSMUST00000202279] [ENSMUST00000202291]
AlphaFold Q3V2Q8
Predicted Effect probably benign
Transcript: ENSMUST00000016279
AA Change: H41N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000016279
Gene: ENSMUSG00000041132
AA Change: H41N

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
Pfam:AAA_33 42 176 6.1e-19 PFAM
Pfam:AAA_17 42 198 3.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200840
AA Change: H41N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144439
Gene: ENSMUSG00000041132
AA Change: H41N

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1ly1a_ 40 60 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200926
Predicted Effect probably benign
Transcript: ENSMUST00000201319
AA Change: H41N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144635
Gene: ENSMUSG00000041132
AA Change: H41N

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1ly1a_ 40 58 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202279
AA Change: H41N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143792
Gene: ENSMUSG00000041132
AA Change: H41N

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1l4ua_ 42 58 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202482
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A G 13: 104,526,643 (GRCm39) I524V probably damaging Het
Atxn2 T A 5: 121,935,407 (GRCm39) M336K probably damaging Het
Bcr T A 10: 74,990,783 (GRCm39) F763Y probably damaging Het
Bdnf A G 2: 109,554,100 (GRCm39) Y158C probably damaging Het
Ccdc92 T C 5: 124,912,920 (GRCm39) E203G probably damaging Het
Cyp2j12 T C 4: 96,010,895 (GRCm39) *72W probably null Het
Def6 G T 17: 28,442,701 (GRCm39) R288L possibly damaging Het
Foxn1 T G 11: 78,251,732 (GRCm39) S500R possibly damaging Het
Gss T C 2: 155,409,726 (GRCm39) K77E probably damaging Het
Habp2 G A 19: 56,304,739 (GRCm39) G410D probably benign Het
Krt36 A T 11: 99,994,946 (GRCm39) C209S possibly damaging Het
Mmrn1 T C 6: 60,954,145 (GRCm39) F809L probably benign Het
Mptx2 C A 1: 173,102,408 (GRCm39) V94F probably damaging Het
Myh4 G T 11: 67,134,245 (GRCm39) probably benign Het
Ndnf T A 6: 65,680,539 (GRCm39) S273T probably benign Het
Nt5c1b A T 12: 10,440,108 (GRCm39) Y624F possibly damaging Het
Prss8 C T 7: 127,525,752 (GRCm39) V256M probably damaging Het
Ramp1 T C 1: 91,150,821 (GRCm39) probably benign Het
Sf3b2 A G 19: 5,329,866 (GRCm39) probably benign Het
Tfdp2 G A 9: 96,182,465 (GRCm39) R235Q possibly damaging Het
Tle1 C T 4: 72,116,058 (GRCm39) probably benign Het
Tmprss11e A G 5: 86,867,593 (GRCm39) V159A probably damaging Het
Trim12c A G 7: 103,997,269 (GRCm39) C96R probably damaging Het
Usp24 A G 4: 106,244,931 (GRCm39) D1256G probably benign Het
Other mutations in N4bp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02048:N4bp2l1 APN 5 150,500,103 (GRCm39) critical splice donor site probably null
R0625:N4bp2l1 UTSW 5 150,500,210 (GRCm39) nonsense probably null
R0763:N4bp2l1 UTSW 5 150,517,869 (GRCm39) missense possibly damaging 0.66
R2372:N4bp2l1 UTSW 5 150,496,246 (GRCm39) missense probably damaging 1.00
R5548:N4bp2l1 UTSW 5 150,496,420 (GRCm39) nonsense probably null
R7311:N4bp2l1 UTSW 5 150,496,389 (GRCm39) missense probably damaging 1.00
R7414:N4bp2l1 UTSW 5 150,499,758 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21