Incidental Mutation 'R7510:Numbl'
ID 628170
Institutional Source Beutler Lab
Gene Symbol Numbl
Ensembl Gene ENSMUSG00000063160
Gene Name numb-like
Synonyms nbl
MMRRC Submission 045583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7510 (G1)
Quality Score 79.9725
Status Validated
Chromosome 7
Chromosomal Location 26957884-26981570 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 26971412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079258]
AlphaFold O08919
Predicted Effect probably null
Transcript: ENSMUST00000079258
SMART Domains Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b1 C T 10: 98,829,758 (GRCm39) R320C probably benign Het
Bend4 A G 5: 67,584,727 (GRCm39) F66L unknown Het
Brca2 T C 5: 150,460,156 (GRCm39) V477A possibly damaging Het
Brms1l A T 12: 55,892,107 (GRCm39) K134* probably null Het
Catsper1 A T 19: 5,389,578 (GRCm39) T498S probably benign Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
D030056L22Rik G T 19: 18,690,853 (GRCm39) A56S possibly damaging Het
Disp1 T C 1: 182,869,975 (GRCm39) N815S probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Fancf A G 7: 51,511,953 (GRCm39) V17A probably damaging Het
Fastkd2 T A 1: 63,776,948 (GRCm39) H361Q possibly damaging Het
Furin A G 7: 80,043,333 (GRCm39) S293P probably damaging Het
Ghsr A T 3: 27,426,523 (GRCm39) D193V probably benign Het
Gm14403 T A 2: 177,200,403 (GRCm39) N116K probably benign Het
Gpr31b A G 17: 13,270,557 (GRCm39) L204P probably damaging Het
Hexim1 A G 11: 103,008,067 (GRCm39) E107G probably benign Het
Hspa14 T C 2: 3,499,159 (GRCm39) S212G probably benign Het
Il18r1 T A 1: 40,514,035 (GRCm39) H80Q probably benign Het
Itpr3 A G 17: 27,308,013 (GRCm39) T267A probably damaging Het
Kidins220 T A 12: 25,042,268 (GRCm39) H146Q possibly damaging Het
Larp4 T C 15: 99,891,258 (GRCm39) F228L probably benign Het
Ltbp1 T A 17: 75,659,712 (GRCm39) V1288E probably damaging Het
Madd T C 2: 91,008,321 (GRCm39) T194A possibly damaging Het
Mlana G A 19: 29,682,072 (GRCm39) G42S probably benign Het
Mlxipl A G 5: 135,161,972 (GRCm39) E548G possibly damaging Het
Mmab A T 5: 114,573,283 (GRCm39) C228S probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nrf1 C T 6: 30,151,633 (GRCm39) T490I possibly damaging Het
Or12e13 T A 2: 87,663,872 (GRCm39) I163K probably damaging Het
Or13c7 A G 4: 43,854,482 (GRCm39) T58A probably benign Het
Or5bw2 C T 7: 6,572,960 (GRCm39) probably benign Het
Or5v1b T A 17: 37,841,480 (GRCm39) I204N probably damaging Het
Or6c3b G T 10: 129,527,789 (GRCm39) N40K probably damaging Het
Or9g8 T A 2: 85,607,153 (GRCm39) V75D probably damaging Het
Papln G A 12: 83,818,947 (GRCm39) D96N probably damaging Het
Pcdhb14 T C 18: 37,582,645 (GRCm39) Y584H probably damaging Het
Pde7b T C 10: 20,288,761 (GRCm39) D310G possibly damaging Het
Plin5 T A 17: 56,420,975 (GRCm39) H230L probably damaging Het
Ppp1r13l A C 7: 19,102,726 (GRCm39) E47A possibly damaging Het
Prdm5 C T 6: 65,904,976 (GRCm39) H536Y probably damaging Het
Prickle2 T C 6: 92,353,451 (GRCm39) R728G possibly damaging Het
Prkca A T 11: 107,874,820 (GRCm39) V374E possibly damaging Het
Prss3 A T 6: 41,352,044 (GRCm39) L73* probably null Het
Prss51 G A 14: 64,333,489 (GRCm39) D33N probably damaging Het
Rfwd3 A G 8: 112,006,659 (GRCm39) V479A probably damaging Het
Rpl36a-ps1 G A 14: 99,231,666 (GRCm39) T24I probably benign Het
Rps6ka5 T C 12: 100,582,327 (GRCm39) I182V possibly damaging Het
Saa2 T A 7: 46,402,933 (GRCm39) D61E probably damaging Het
Samd3 A T 10: 26,106,006 (GRCm39) I22F probably benign Het
Sap130 C T 18: 31,800,057 (GRCm39) P403L probably damaging Het
Sap130 A G 18: 31,844,268 (GRCm39) T813A probably damaging Het
Scfd2 A G 5: 74,372,988 (GRCm39) F629S probably damaging Het
Sec61a1 A T 6: 88,489,585 (GRCm39) F119I probably benign Het
Serpinb9 T A 13: 33,194,768 (GRCm39) F175I probably damaging Het
Slc12a3 G T 8: 95,092,477 (GRCm39) C966F probably damaging Het
Sptbn4 A G 7: 27,127,693 (GRCm39) V169A probably benign Het
Synj1 A G 16: 90,735,565 (GRCm39) S1463P probably benign Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tigd5 T C 15: 75,782,268 (GRCm39) V210A probably benign Het
Tssc4 G A 7: 142,623,718 (GRCm39) E9K possibly damaging Het
Txk C G 5: 72,893,726 (GRCm39) C18S unknown Het
Uaca G A 9: 60,757,487 (GRCm39) probably null Het
Vmn2r1 A C 3: 63,993,922 (GRCm39) K89N probably damaging Het
Zfp160 G A 17: 21,246,655 (GRCm39) E402K probably benign Het
Other mutations in Numbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Numbl APN 7 26,968,235 (GRCm39) missense possibly damaging 0.50
IGL01389:Numbl APN 7 26,980,472 (GRCm39) missense possibly damaging 0.94
IGL02671:Numbl APN 7 26,964,327 (GRCm39) missense probably damaging 1.00
F5770:Numbl UTSW 7 26,979,027 (GRCm39) missense probably benign
R0212:Numbl UTSW 7 26,980,184 (GRCm39) missense probably damaging 1.00
R0709:Numbl UTSW 7 26,973,415 (GRCm39) missense probably damaging 1.00
R1768:Numbl UTSW 7 26,980,379 (GRCm39) missense probably benign
R2181:Numbl UTSW 7 26,968,346 (GRCm39) critical splice donor site probably null
R5071:Numbl UTSW 7 26,980,415 (GRCm39) missense probably damaging 1.00
R5072:Numbl UTSW 7 26,980,415 (GRCm39) missense probably damaging 1.00
R5074:Numbl UTSW 7 26,980,415 (GRCm39) missense probably damaging 1.00
R6134:Numbl UTSW 7 26,980,739 (GRCm39) missense probably damaging 0.98
R6387:Numbl UTSW 7 26,976,115 (GRCm39) missense probably damaging 0.99
R6989:Numbl UTSW 7 26,980,265 (GRCm39) missense probably damaging 1.00
R8093:Numbl UTSW 7 26,980,461 (GRCm39) missense possibly damaging 0.52
R8518:Numbl UTSW 7 26,964,361 (GRCm39) missense probably benign 0.12
R9449:Numbl UTSW 7 26,976,327 (GRCm39) missense
V7580:Numbl UTSW 7 26,979,027 (GRCm39) missense probably benign
V7583:Numbl UTSW 7 26,979,027 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGACCTTTGCAACCTTTAGCAG -3'
(R):5'- TCACTGGCTTCATCCTCGAG -3'

Sequencing Primer
(F):5'- TCTGCACAGGAGCTTTCT -3'
(R):5'- TGCCGGCCAGAAGTATGTAC -3'
Posted On 2020-01-29