Incidental Mutation 'IGL02716:Numb'
ID 304770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Numb
Ensembl Gene ENSMUSG00000021224
Gene Name NUMB endocytic adaptor protein
Synonyms m-numb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02716
Quality Score
Status
Chromosome 12
Chromosomal Location 83840808-83968708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83847982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 241 (S241T)
Ref Sequence ENSEMBL: ENSMUSP00000117899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021647] [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000129335] [ENSMUST00000154043] [ENSMUST00000155112]
AlphaFold Q9QZS3
Predicted Effect probably benign
Transcript: ENSMUST00000021647
AA Change: S252T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224
AA Change: S252T

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 257 339 4.7e-42 PFAM
low complexity region 413 434 N/A INTRINSIC
low complexity region 445 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085215
AA Change: S252T

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224
AA Change: S252T

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 257 322 5.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110298
SMART Domains Protein: ENSMUSP00000105927
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
Pfam:PID 39 76 2.3e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117217
AA Change: S241T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224
AA Change: S241T

DomainStartEndE-ValueType
PTB 34 164 3.62e-38 SMART
low complexity region 220 242 N/A INTRINSIC
Pfam:NumbF 246 328 4.5e-42 PFAM
low complexity region 402 423 N/A INTRINSIC
low complexity region 434 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129335
AA Change: S252T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224
AA Change: S252T

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 258 338 9.9e-32 PFAM
low complexity region 462 483 N/A INTRINSIC
low complexity region 494 502 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000154043
AA Change: S241T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224
AA Change: S241T

DomainStartEndE-ValueType
PTB 34 164 3.62e-38 SMART
low complexity region 220 242 N/A INTRINSIC
Pfam:NumbF 246 328 5.1e-42 PFAM
low complexity region 451 472 N/A INTRINSIC
low complexity region 483 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155112
SMART Domains Protein: ENSMUSP00000116863
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 163 5.63e-26 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a conserved protein that is distributed asymmetrically during cell division in the developing embryo. The encoded protein participates in cell fate decisions by interacting with the Notch receptor. Loss of function of this gene results in severe defects in neural development and loss of viability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele die at ~E11.5 with neural tube closure defects and precocious cortical neurogenesis. Mice homozygous for another null allele show impaired axial rotation, neural tube closure, angiogenic remodeling, placenta formation, and motor and sensory neuron differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,218,102 (GRCm39) S212P probably benign Het
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Crebbp T C 16: 3,932,742 (GRCm39) E586G probably benign Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Lyset A G 12: 102,711,088 (GRCm39) T104A probably benign Het
Mast1 G T 8: 85,662,352 (GRCm39) P52Q probably damaging Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in Numb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Numb APN 12 83,854,906 (GRCm39) missense probably damaging 1.00
IGL01979:Numb APN 12 83,889,051 (GRCm39) missense probably damaging 1.00
IGL02318:Numb APN 12 83,878,692 (GRCm39) splice site probably null
IGL03206:Numb APN 12 83,872,070 (GRCm39) splice site probably benign
PIT4468001:Numb UTSW 12 83,854,921 (GRCm39) missense probably damaging 0.99
R0086:Numb UTSW 12 83,842,704 (GRCm39) missense probably damaging 1.00
R0626:Numb UTSW 12 83,842,614 (GRCm39) missense probably damaging 0.97
R0652:Numb UTSW 12 83,842,566 (GRCm39) missense probably damaging 1.00
R1201:Numb UTSW 12 83,848,059 (GRCm39) missense probably damaging 0.99
R1295:Numb UTSW 12 83,842,935 (GRCm39) splice site probably benign
R1433:Numb UTSW 12 83,844,033 (GRCm39) missense probably damaging 0.98
R1489:Numb UTSW 12 83,842,217 (GRCm39) missense probably damaging 1.00
R1606:Numb UTSW 12 83,847,784 (GRCm39) splice site probably null
R1980:Numb UTSW 12 83,844,118 (GRCm39) critical splice acceptor site probably null
R3771:Numb UTSW 12 83,846,350 (GRCm39) missense probably damaging 0.99
R5382:Numb UTSW 12 83,854,979 (GRCm39) missense probably damaging 1.00
R5818:Numb UTSW 12 83,872,028 (GRCm39) splice site probably null
R5846:Numb UTSW 12 83,923,521 (GRCm39) utr 5 prime probably benign
R6360:Numb UTSW 12 83,844,036 (GRCm39) missense probably damaging 0.99
R6384:Numb UTSW 12 83,850,748 (GRCm39) missense probably damaging 1.00
R7186:Numb UTSW 12 83,842,920 (GRCm39) missense probably damaging 1.00
R7469:Numb UTSW 12 83,850,578 (GRCm39) missense probably benign 0.37
R7749:Numb UTSW 12 83,848,051 (GRCm39) missense not run
R8342:Numb UTSW 12 83,854,990 (GRCm39) missense probably benign 0.02
R8370:Numb UTSW 12 83,854,974 (GRCm39) nonsense probably null
R9448:Numb UTSW 12 83,888,990 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16