Incidental Mutation 'R9054:Nebl'
ID 688545
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 068880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9054 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17415907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 334 (M334K)
Ref Sequence ENSEMBL: ENSMUSP00000118525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000131957] [ENSMUST00000132418] [ENSMUST00000145492]
AlphaFold Q0II04
Predicted Effect probably benign
Transcript: ENSMUST00000028080
SMART Domains Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702

DomainStartEndE-ValueType
LIM 4 56 6.95e-14 SMART
NEBU 62 92 3.35e-8 SMART
NEBU 98 128 4.88e-10 SMART
NEBU 134 164 3.82e-3 SMART
SH3 213 270 2.12e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000124270
AA Change: M369K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: M369K

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
NEBU 30 60 1.21e-5 SMART
NEBU 65 95 5.4e-3 SMART
NEBU 102 132 4.46e-4 SMART
NEBU 139 169 1.31e-1 SMART
NEBU 173 203 5.4e-3 SMART
NEBU 207 237 2.74e-4 SMART
NEBU 245 275 1.57e0 SMART
NEBU 280 310 9.67e-1 SMART
NEBU 315 345 6.25e-8 SMART
NEBU 351 381 5.97e-5 SMART
NEBU 387 418 2.56e-4 SMART
NEBU 425 455 8.91e-4 SMART
NEBU 462 492 4.92e-6 SMART
NEBU 499 529 2.33e-7 SMART
NEBU 536 566 1.84e-5 SMART
NEBU 571 601 2.23e-4 SMART
NEBU 602 632 1.24e-2 SMART
NEBU 664 694 6.6e-7 SMART
NEBU 695 725 6.86e-5 SMART
NEBU 726 756 2.03e-7 SMART
NEBU 761 791 1.74e-6 SMART
NEBU 797 827 3.82e-3 SMART
SH3 957 1014 2.12e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124611
SMART Domains Protein: ENSMUSP00000116065
Gene: ENSMUSG00000053702

DomainStartEndE-ValueType
NEBU 3 33 4.88e-10 SMART
NEBU 39 69 3.82e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131957
AA Change: M334K

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: M334K

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
NEBU 30 60 1.21e-5 SMART
NEBU 65 95 5.4e-3 SMART
NEBU 102 132 4.46e-4 SMART
NEBU 139 169 1.31e-1 SMART
NEBU 173 203 5.4e-3 SMART
NEBU 207 237 2.74e-4 SMART
NEBU 245 275 7.35e0 SMART
NEBU 280 310 6.25e-8 SMART
NEBU 316 346 5.97e-5 SMART
NEBU 352 383 2.56e-4 SMART
NEBU 390 420 8.91e-4 SMART
NEBU 427 457 4.92e-6 SMART
NEBU 464 494 2.33e-7 SMART
NEBU 501 525 1.02e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000132418
AA Change: M334K

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122024
Gene: ENSMUSG00000053702
AA Change: M334K

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
NEBU 30 60 1.21e-5 SMART
NEBU 65 95 5.4e-3 SMART
NEBU 102 132 4.46e-4 SMART
NEBU 139 169 1.31e-1 SMART
NEBU 173 203 5.4e-3 SMART
NEBU 207 237 2.74e-4 SMART
NEBU 245 275 7.35e0 SMART
NEBU 280 310 6.25e-8 SMART
NEBU 316 346 5.97e-5 SMART
NEBU 352 383 2.56e-4 SMART
NEBU 390 420 4.78e-4 SMART
NEBU 427 450 6.81e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145492
AA Change: M334K

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121313
Gene: ENSMUSG00000053702
AA Change: M334K

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
NEBU 30 60 1.21e-5 SMART
NEBU 65 95 5.4e-3 SMART
NEBU 102 132 4.46e-4 SMART
NEBU 139 169 1.31e-1 SMART
NEBU 173 203 5.4e-3 SMART
NEBU 207 237 2.74e-4 SMART
NEBU 245 275 7.35e0 SMART
NEBU 280 310 6.25e-8 SMART
NEBU 316 346 5.97e-5 SMART
NEBU 352 383 2.56e-4 SMART
NEBU 390 420 8.91e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,395,594 (GRCm39) D641E probably benign Het
Anln A G 9: 22,272,116 (GRCm39) probably null Het
Areg A T 5: 91,292,217 (GRCm39) E172D probably damaging Het
Ccdc51 A T 9: 108,918,482 (GRCm39) T24S probably benign Het
Cckar A T 5: 53,860,424 (GRCm39) I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,313,821 (GRCm39) probably benign Het
Cep295 T C 9: 15,235,551 (GRCm39) H2056R possibly damaging Het
Chrnb2 T C 3: 89,664,562 (GRCm39) K451E probably damaging Het
Ctnna2 C T 6: 76,919,249 (GRCm39) R663Q probably benign Het
Cyp4f37 A T 17: 32,853,253 (GRCm39) I406F probably benign Het
Eml4 T A 17: 83,734,640 (GRCm39) probably benign Het
Fkrp G T 7: 16,544,569 (GRCm39) T431K probably damaging Het
Fsip2 A T 2: 82,806,180 (GRCm39) Y833F possibly damaging Het
Galnt2 T C 8: 125,058,837 (GRCm39) probably null Het
Gm8180 T A 14: 44,019,806 (GRCm39) probably null Het
Hcn1 T C 13: 118,108,171 (GRCm39) S552P unknown Het
Ifit1 A C 19: 34,625,887 (GRCm39) E341A possibly damaging Het
Iyd A G 10: 3,490,250 (GRCm39) probably benign Het
Krt72 A T 15: 101,694,836 (GRCm39) S20T probably damaging Het
Lemd2 G T 17: 27,423,069 (GRCm39) D108E probably benign Het
Lipn A T 19: 34,054,376 (GRCm39) I205F possibly damaging Het
Nat1 G T 8: 67,943,723 (GRCm39) R36L probably benign Het
Nectin4 A T 1: 171,214,351 (GRCm39) N502I probably damaging Het
Nrp1 G A 8: 129,214,389 (GRCm39) V626I probably benign Het
Oprm1 G A 10: 6,773,914 (GRCm39) probably benign Het
Or52w1 A G 7: 105,017,680 (GRCm39) Y49C probably damaging Het
Or8a1b C T 9: 37,623,204 (GRCm39) V124M probably damaging Het
Pde2a A G 7: 101,156,927 (GRCm39) Y637C probably damaging Het
Pde4d T C 13: 110,071,924 (GRCm39) V306A probably damaging Het
Pdzd9 G A 7: 120,269,498 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,947,017 (GRCm39) D810V probably damaging Het
Pkd1l3 A T 8: 110,392,304 (GRCm39) H1966L probably benign Het
Pmfbp1 C T 8: 110,247,661 (GRCm39) T319I possibly damaging Het
Pramel28 T C 4: 143,692,314 (GRCm39) Q229R probably benign Het
Prb1c G C 6: 132,338,856 (GRCm39) Q121E unknown Het
Psg18 T A 7: 18,087,450 (GRCm39) R69S possibly damaging Het
Ptprg A T 14: 12,213,638 (GRCm38) Q1002L possibly damaging Het
Ptprj T C 2: 90,290,984 (GRCm39) Y585C probably damaging Het
Rad51c T C 11: 87,293,542 (GRCm39) T105A probably benign Het
Rbm12 A T 2: 155,937,481 (GRCm39) D930E unknown Het
Rlf A C 4: 121,007,784 (GRCm39) S509A possibly damaging Het
Slc39a3 C A 10: 80,869,499 (GRCm39) G53C probably damaging Het
Smchd1 G A 17: 71,670,017 (GRCm39) Q1685* probably null Het
Sprr2d A C 3: 92,247,715 (GRCm39) E52A unknown Het
Stat1 A G 1: 52,182,086 (GRCm39) N355S probably damaging Het
Tmem30b T C 12: 73,592,923 (GRCm39) E64G probably benign Het
Ttll11 A T 2: 35,869,392 (GRCm39) V82D probably benign Het
Ttn T A 2: 76,570,977 (GRCm39) T26639S probably damaging Het
Usp53 A T 3: 122,727,725 (GRCm39) N952K probably benign Het
Vmn1r199 T A 13: 22,567,724 (GRCm39) H339Q possibly damaging Het
Vps13b G A 15: 35,422,537 (GRCm39) D166N probably damaging Het
Zfp954 C A 7: 7,119,097 (GRCm39) C149F probably benign Het
Other mutations in Nebl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Nebl APN 2 17,353,679 (GRCm39) missense probably damaging 0.99
IGL02732:Nebl APN 2 17,457,295 (GRCm39) splice site probably benign
IGL03241:Nebl APN 2 17,397,975 (GRCm39) critical splice donor site probably null
IGL03334:Nebl APN 2 17,418,522 (GRCm39) missense probably damaging 0.98
BB008:Nebl UTSW 2 17,381,433 (GRCm39) critical splice donor site probably null
BB018:Nebl UTSW 2 17,381,433 (GRCm39) critical splice donor site probably null
R0068:Nebl UTSW 2 17,439,782 (GRCm39) nonsense probably null
R0127:Nebl UTSW 2 17,397,794 (GRCm39) missense probably benign 0.31
R0128:Nebl UTSW 2 17,397,834 (GRCm39) missense possibly damaging 0.65
R0130:Nebl UTSW 2 17,397,834 (GRCm39) missense possibly damaging 0.65
R0130:Nebl UTSW 2 17,395,737 (GRCm39) start gained probably benign
R0537:Nebl UTSW 2 17,409,026 (GRCm39) missense possibly damaging 0.62
R0743:Nebl UTSW 2 17,415,929 (GRCm39) missense probably benign
R0884:Nebl UTSW 2 17,415,929 (GRCm39) missense probably benign
R1364:Nebl UTSW 2 17,397,848 (GRCm39) unclassified probably benign
R1638:Nebl UTSW 2 17,381,462 (GRCm39) missense possibly damaging 0.94
R1711:Nebl UTSW 2 17,393,565 (GRCm39) missense probably damaging 0.96
R1933:Nebl UTSW 2 17,380,103 (GRCm39) missense probably damaging 0.97
R1990:Nebl UTSW 2 17,457,321 (GRCm39) missense probably damaging 0.98
R1991:Nebl UTSW 2 17,457,321 (GRCm39) missense probably damaging 0.98
R1992:Nebl UTSW 2 17,457,321 (GRCm39) missense probably damaging 0.98
R2062:Nebl UTSW 2 17,401,932 (GRCm39) missense probably benign 0.39
R2183:Nebl UTSW 2 17,409,027 (GRCm39) missense probably damaging 0.99
R2325:Nebl UTSW 2 17,397,827 (GRCm39) missense possibly damaging 0.79
R2679:Nebl UTSW 2 17,429,402 (GRCm39) missense probably benign 0.03
R2877:Nebl UTSW 2 17,439,740 (GRCm39) missense probably damaging 0.99
R2878:Nebl UTSW 2 17,439,740 (GRCm39) missense probably damaging 0.99
R3079:Nebl UTSW 2 17,381,462 (GRCm39) missense possibly damaging 0.94
R3080:Nebl UTSW 2 17,381,462 (GRCm39) missense possibly damaging 0.94
R3878:Nebl UTSW 2 17,398,063 (GRCm39) missense possibly damaging 0.83
R3947:Nebl UTSW 2 17,382,917 (GRCm39) critical splice donor site probably null
R4983:Nebl UTSW 2 17,380,082 (GRCm39) missense possibly damaging 0.80
R5006:Nebl UTSW 2 17,393,582 (GRCm39) splice site probably null
R5256:Nebl UTSW 2 17,438,786 (GRCm39) missense probably benign 0.37
R5491:Nebl UTSW 2 17,439,783 (GRCm39) nonsense probably null
R5533:Nebl UTSW 2 17,398,079 (GRCm39) nonsense probably null
R5597:Nebl UTSW 2 17,382,978 (GRCm39) missense probably benign
R5658:Nebl UTSW 2 17,353,663 (GRCm39) missense probably damaging 1.00
R5933:Nebl UTSW 2 17,408,998 (GRCm39) missense probably benign
R6056:Nebl UTSW 2 17,455,045 (GRCm39) missense probably benign 0.13
R6161:Nebl UTSW 2 17,735,641 (GRCm39) missense probably benign 0.26
R6646:Nebl UTSW 2 17,381,496 (GRCm39) missense probably damaging 1.00
R6784:Nebl UTSW 2 17,439,725 (GRCm39) nonsense probably null
R6935:Nebl UTSW 2 17,353,637 (GRCm39) missense probably damaging 1.00
R7196:Nebl UTSW 2 17,457,329 (GRCm39) missense probably damaging 1.00
R7671:Nebl UTSW 2 17,395,727 (GRCm39) nonsense probably null
R7728:Nebl UTSW 2 17,375,325 (GRCm39) missense
R7931:Nebl UTSW 2 17,381,433 (GRCm39) critical splice donor site probably null
R8007:Nebl UTSW 2 17,375,300 (GRCm39) missense
R8048:Nebl UTSW 2 17,429,333 (GRCm39) missense probably benign 0.12
R8118:Nebl UTSW 2 17,384,631 (GRCm39) missense possibly damaging 0.48
R8317:Nebl UTSW 2 17,355,568 (GRCm39) missense possibly damaging 0.71
R8349:Nebl UTSW 2 17,418,593 (GRCm39) missense probably damaging 0.98
R8360:Nebl UTSW 2 17,465,298 (GRCm39) missense probably benign 0.04
R8392:Nebl UTSW 2 17,457,363 (GRCm39) missense probably benign 0.36
R8449:Nebl UTSW 2 17,418,593 (GRCm39) missense probably damaging 0.98
R8537:Nebl UTSW 2 17,355,520 (GRCm39) missense probably benign 0.02
R8778:Nebl UTSW 2 17,409,078 (GRCm39) missense probably damaging 1.00
R8893:Nebl UTSW 2 17,735,671 (GRCm39) start codon destroyed probably null 1.00
R8894:Nebl UTSW 2 17,380,036 (GRCm39) missense probably benign 0.01
R8906:Nebl UTSW 2 17,382,928 (GRCm39) missense probably benign 0.18
R8929:Nebl UTSW 2 17,397,991 (GRCm39) nonsense probably null
R9119:Nebl UTSW 2 17,405,370 (GRCm39) missense probably damaging 0.96
R9211:Nebl UTSW 2 17,393,501 (GRCm39) critical splice donor site probably null
R9225:Nebl UTSW 2 17,405,322 (GRCm39) missense possibly damaging 0.70
R9296:Nebl UTSW 2 17,429,451 (GRCm39) splice site probably benign
R9310:Nebl UTSW 2 17,353,678 (GRCm39) missense probably benign 0.16
R9474:Nebl UTSW 2 17,374,421 (GRCm39) nonsense probably null
X0012:Nebl UTSW 2 17,448,605 (GRCm39) missense probably benign 0.16
X0025:Nebl UTSW 2 17,409,078 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCACCCAAAGCAATGTTG -3'
(R):5'- GTCACTAACTTTGAGGAACATACTC -3'

Sequencing Primer
(F):5'- TTGGTTCTAGAACACAGGTCCCAAG -3'
(R):5'- CCCAAGACTTTGCTAAGAATGTGCTC -3'
Posted On 2021-11-19