Incidental Mutation 'R6387:Numbl'
ID514653
Institutional Source Beutler Lab
Gene Symbol Numbl
Ensembl Gene ENSMUSG00000063160
Gene Namenumb-like
Synonymsnbl
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6387 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location27258433-27282144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27276690 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 265 (T265I)
Ref Sequence ENSEMBL: ENSMUSP00000078245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079258]
Predicted Effect probably damaging
Transcript: ENSMUST00000079258
AA Change: T265I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: T265I

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: ENSMUST00000122093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149805
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,737,015 K326E possibly damaging Het
Acot1 A G 12: 84,009,853 D115G probably benign Het
Adm T C 7: 110,628,295 I6T possibly damaging Het
Ahi1 A G 10: 20,969,043 Y349C probably damaging Het
Aldh1a1 A G 19: 20,617,959 E84G probably damaging Het
Ankrd31 A G 13: 96,830,573 D520G probably damaging Het
Ano4 A T 10: 88,971,405 Y736* probably null Het
Atp6v1a A G 16: 44,087,443 F612S possibly damaging Het
Calcb G A 7: 114,719,790 V17I possibly damaging Het
Cfap70 C T 14: 20,448,575 V15M probably damaging Het
Chad C T 11: 94,567,837 H271Y possibly damaging Het
Csgalnact1 C T 8: 68,358,713 G435D probably damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Eprs T A 1: 185,387,084 M487K possibly damaging Het
Fat4 A G 3: 38,983,785 E3862G probably damaging Het
Gdf10 T A 14: 33,924,004 S37T probably benign Het
Hhatl T A 9: 121,790,401 H39L probably benign Het
Icam4 A C 9: 21,030,209 S215R possibly damaging Het
Ighv1-18 T C 12: 114,682,660 E108G probably damaging Het
Iqcd T C 5: 120,606,855 I416T probably benign Het
Marf1 T A 16: 14,141,640 *577L probably null Het
Mark2 A G 19: 7,285,902 F167L probably damaging Het
Mpdz T C 4: 81,381,709 T351A possibly damaging Het
Mrps27 A G 13: 99,400,317 I113V possibly damaging Het
Obsl1 C T 1: 75,491,362 A1296T probably benign Het
Olfr979 A G 9: 40,000,852 I125T probably damaging Het
Pcdhb21 A G 18: 37,515,332 I505V probably benign Het
Pfas A G 11: 69,000,465 F269L probably damaging Het
Prkdc G A 16: 15,698,815 V1018I probably benign Het
Prl4a1 T A 13: 28,018,499 V19E possibly damaging Het
Ptpn22 A G 3: 103,885,386 D327G probably benign Het
Smad3 G T 9: 63,654,765 D310E probably benign Het
Sparcl1 T A 5: 104,085,060 D625V probably damaging Het
Spta1 G A 1: 174,231,333 A1945T probably benign Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Sympk T C 7: 19,052,498 Y1009H possibly damaging Het
Trio A G 15: 27,752,739 F1026L probably damaging Het
Uhrf1bp1l C T 10: 89,803,057 Q442* probably null Het
Unc5d T A 8: 28,875,526 K144* probably null Het
Unk A G 11: 116,054,940 N479S possibly damaging Het
Zfp710 T C 7: 80,086,027 I514T probably damaging Het
Zfp993 A G 4: 146,657,518 T100A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CGGCATAGACTGTTCAGCTAG -3'
(R):5'- ATGGCAGCTCATTCAACCG -3'

Sequencing Primer
(F):5'- CGGCATAGACTGTTCAGCTAGTATAC -3'
(R):5'- TAGGCTCAGCTGACGTTTGAAAG -3'
Posted On2018-05-04