Incidental Mutation 'R8317:Nebl'
ID 641728
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 067721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17355568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 195 (M195T)
Ref Sequence ENSEMBL: ENSMUSP00000028080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270]
AlphaFold Q0II04
Predicted Effect possibly damaging
Transcript: ENSMUST00000028080
AA Change: M195T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702
AA Change: M195T

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 probably damaging
Transcript: ENSMUST00000124270
AA Change: M939T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: M939T

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
SMART Domains Protein: ENSMUSP00000116065
Gene: ENSMUSG00000053702
AA Change: M130T

DomainStartEndE-ValueType
NEBU 3 33 4.88e-10 SMART
NEBU 39 69 3.82e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,723,236 (GRCm39) V621M probably damaging Het
Adipor1 C T 1: 134,355,905 (GRCm39) R235W probably benign Het
Agbl1 T A 7: 76,071,929 (GRCm39) M594K unknown Het
Ang2 A G 14: 51,433,349 (GRCm39) V11A probably benign Het
Ccl25 A G 8: 4,404,138 (GRCm39) N80S probably benign Het
Cd19 A T 7: 126,012,615 (GRCm39) C259* probably null Het
Cd209b A T 8: 3,972,018 (GRCm39) I177N probably damaging Het
Cdc20 C A 4: 118,294,323 (GRCm39) probably benign Het
Cdh23 A T 10: 60,147,037 (GRCm39) probably null Het
Cdh23 G A 10: 60,272,568 (GRCm39) R536W probably damaging Het
Cfap299 A C 5: 98,885,459 (GRCm39) H122P probably benign Het
Chd6 T C 2: 160,832,241 (GRCm39) D977G probably damaging Het
Cilk1 T A 9: 78,060,933 (GRCm39) V193E probably damaging Het
Csl T G 10: 99,594,900 (GRCm39) H55P probably damaging Het
Cstf2t G A 19: 31,061,648 (GRCm39) A395T probably benign Het
Dhx58 A T 11: 100,594,388 (GRCm39) I101N probably damaging Het
Dlg5 A C 14: 24,241,298 (GRCm39) S200A probably damaging Het
Epb41 C A 4: 131,684,961 (GRCm39) G86V Het
Fat4 T C 3: 39,012,659 (GRCm39) V2318A possibly damaging Het
Fbxo32 A T 15: 58,068,626 (GRCm39) F119I probably damaging Het
Flacc1 T C 1: 58,715,707 (GRCm39) K170E possibly damaging Het
Fndc1 A T 17: 8,019,720 (GRCm39) L153* probably null Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Gm4559 CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT 7: 141,827,553 (GRCm39) probably benign Het
Gpr63 A T 4: 25,008,223 (GRCm39) T316S probably damaging Het
Il16 T C 7: 83,304,538 (GRCm39) T665A probably benign Het
Lama5 T C 2: 179,848,784 (GRCm39) N272S probably damaging Het
Map3k1 T C 13: 111,894,696 (GRCm39) Y660C probably damaging Het
Mbd3l1 C A 9: 18,396,117 (GRCm39) L81I probably benign Het
Morc3 C A 16: 93,659,417 (GRCm39) Q442K probably benign Het
Muc16 G A 9: 18,569,339 (GRCm39) T1060I unknown Het
Myh11 T A 16: 14,025,941 (GRCm39) D1343V Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nbn T G 4: 15,970,893 (GRCm39) L292W probably damaging Het
Ndufb11b A G 15: 81,864,978 (GRCm39) Y73C probably damaging Het
Net1 T C 13: 3,957,856 (GRCm39) K66E possibly damaging Het
Nod1 T C 6: 54,920,425 (GRCm39) Y631C probably damaging Het
Nxf1 A G 19: 8,748,407 (GRCm39) H12R probably benign Het
Onecut3 T C 10: 80,331,161 (GRCm39) L107P unknown Het
Opa1 T G 16: 29,432,962 (GRCm39) I512S probably damaging Het
P3h3 C T 6: 124,832,116 (GRCm39) G257R probably damaging Het
Pappa2 A G 1: 158,592,530 (GRCm39) C1616R probably damaging Het
Parn T G 16: 13,358,964 (GRCm39) K593Q probably damaging Het
Pcare A C 17: 72,056,197 (GRCm39) L1160R probably benign Het
Polr3g T C 13: 81,826,302 (GRCm39) K173R unknown Het
Prcp A G 7: 92,524,598 (GRCm39) T18A probably benign Het
Sash1 G A 10: 8,605,150 (GRCm39) T1080M possibly damaging Het
Skap2 A G 6: 51,884,865 (GRCm39) probably null Het
Spmip9 C A 6: 70,890,276 (GRCm39) W172L possibly damaging Het
Srebf1 C A 11: 60,091,483 (GRCm39) S1014I possibly damaging Het
Stk32b C T 5: 37,612,319 (GRCm39) E356K probably damaging Het
Tjp3 T A 10: 81,116,324 (GRCm39) T257S probably benign Het
Trf A G 9: 103,094,715 (GRCm39) Y448H probably damaging Het
Tsnaxip1 G C 8: 106,554,438 (GRCm39) R7P probably benign Het
Vmn1r208 G C 13: 22,956,947 (GRCm39) I183M probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Wdhd1 A T 14: 47,500,994 (GRCm39) H469Q probably damaging Het
Zbtb7a G C 10: 80,980,784 (GRCm39) G326A probably benign Het
Zfp493 G A 13: 67,931,958 (GRCm39) R19H probably benign Het
Zfp932 A T 5: 110,156,922 (GRCm39) K207* probably null 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
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
R9054:Nebl UTSW 2 17,415,907 (GRCm39) missense possibly damaging 0.72
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'- TTGTTTTGCTTCCATTGAAAGGAC -3'
(R):5'- GCAGAAATTGACTGACATTTTGAGATC -3'

Sequencing Primer
(F):5'- TTGCTTCCATTGAAAGGACTATATAC -3'
(R):5'- GACTAATCTGGAGACTGCCTGTAC -3'
Posted On 2020-07-28