Incidental Mutation 'IGL00976:Numbl'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Numbl
Ensembl Gene ENSMUSG00000063160
Gene Namenumb-like
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00976
Quality Score
Chromosomal Location27258433-27282144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27268810 bp
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000078245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079258]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079258
AA Change: V144A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: V144A

PTB 75 205 1.11e-38 SMART
low complexity region 234 260 N/A INTRINSIC
Pfam:NumbF 287 371 3.5e-32 PFAM
coiled coil region 417 444 N/A INTRINSIC
low complexity region 532 574 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149805
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in Numbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Numbl APN 7 27281047 missense possibly damaging 0.94
IGL02671:Numbl APN 7 27264902 missense probably damaging 1.00
F5770:Numbl UTSW 7 27279602 missense probably benign
R0212:Numbl UTSW 7 27280759 missense probably damaging 1.00
R0709:Numbl UTSW 7 27273990 missense probably damaging 1.00
R1768:Numbl UTSW 7 27280954 missense probably benign
R2181:Numbl UTSW 7 27268921 critical splice donor site probably null
R5071:Numbl UTSW 7 27280990 missense probably damaging 1.00
R5072:Numbl UTSW 7 27280990 missense probably damaging 1.00
R5074:Numbl UTSW 7 27280990 missense probably damaging 1.00
R6134:Numbl UTSW 7 27281314 missense probably damaging 0.98
R6387:Numbl UTSW 7 27276690 missense probably damaging 0.99
R6989:Numbl UTSW 7 27280840 missense probably damaging 1.00
R7510:Numbl UTSW 7 27271987 intron probably null
V7580:Numbl UTSW 7 27279602 missense probably benign
V7583:Numbl UTSW 7 27279602 missense probably benign
Posted On2013-04-17