Incidental Mutation 'IGL02671:Numbl'
ID302931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Numbl
Ensembl Gene ENSMUSG00000063160
Gene Namenumb-like
Synonymsnbl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02671
Quality Score
Status
Chromosome7
Chromosomal Location27258433-27282144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27264902 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 46 (R46W)
Ref Sequence ENSEMBL: ENSMUSP00000078245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079258]
Predicted Effect probably damaging
Transcript: ENSMUST00000079258
AA Change: R46W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: R46W

DomainStartEndE-ValueType
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: ENSMUST00000132897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152342
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A T 10: 77,980,550 probably benign Het
9030612E09Rik T A 10: 43,174,891 H60Q probably benign Het
Agrn C T 4: 156,174,561 probably benign Het
Angpt1 C T 15: 42,676,394 R23H possibly damaging Het
Cadps T A 14: 12,491,824 E775D probably damaging Het
Cdc42bpa T A 1: 180,061,822 M211K probably benign Het
Clec16a A G 16: 10,627,381 M77V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp27b1 G T 10: 127,051,043 probably null Het
Eef1d A G 15: 75,895,805 I240T probably damaging Het
Fras1 T A 5: 96,728,616 F2403I possibly damaging Het
Ighv1-47 C T 12: 114,991,398 V21I possibly damaging Het
Kank1 T C 19: 25,428,095 L1159P probably damaging Het
Kif12 T C 4: 63,170,457 E202G probably benign Het
Kif17 A G 4: 138,288,061 D315G possibly damaging Het
Mcam T C 9: 44,137,034 probably benign Het
Mpdz A T 4: 81,290,273 D1778E probably damaging Het
Olfr213 C T 6: 116,541,143 T230I possibly damaging Het
Olfr366 A T 2: 37,220,245 Y252F probably damaging Het
Pde3b T C 7: 114,523,345 V716A possibly damaging Het
Plcg1 T A 2: 160,755,752 Y771* probably null Het
Pramel5 A G 4: 144,273,112 V135A probably benign Het
Slu7 A G 11: 43,445,475 probably null Het
Taf2 C T 15: 55,034,176 V919I probably benign Het
Tcf12 G A 9: 72,109,717 T36M probably damaging Het
Tlr11 A T 14: 50,360,692 D45V probably damaging Het
Tmem132b A G 5: 125,778,727 T508A probably damaging Het
Trf C T 9: 103,211,982 E569K probably benign Het
Trim24 T C 6: 37,960,784 C875R probably damaging Het
Usf3 A G 16: 44,221,781 N2208S probably damaging Het
Usp14 A G 18: 9,997,196 V436A probably damaging Het
Vwa5b1 G A 4: 138,569,126 R1197* probably null Het
Other mutations in Numbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Numbl APN 7 27268810 missense possibly damaging 0.50
IGL01389:Numbl APN 7 27281047 missense possibly damaging 0.94
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 splice site probably null
R8093:Numbl UTSW 7 27281036 missense possibly damaging 0.52
R8518:Numbl UTSW 7 27264936 missense probably benign 0.12
V7580:Numbl UTSW 7 27279602 missense probably benign
V7583:Numbl UTSW 7 27279602 missense probably benign
Posted On2015-04-16