Incidental Mutation 'R7728:Nebl'
ID 595608
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 045784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7728 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 17375325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270]
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: F852L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: F852L

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: F93L

DomainStartEndE-ValueType
NEBU 3 33 4.88e-10 SMART
NEBU 39 69 3.82e-3 SMART
Meta Mutation Damage Score 0.2193 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,163,822 (GRCm39) P851S probably damaging Het
2210408I21Rik T A 13: 77,464,596 (GRCm39) L931Q possibly damaging Het
Abcg3 T G 5: 105,083,944 (GRCm39) I609L probably benign Het
Acly A T 11: 100,407,623 (GRCm39) F242L probably damaging Het
Acly C T 11: 100,410,513 (GRCm39) G155D probably benign Het
Acsl5 T A 19: 55,276,285 (GRCm39) L370* probably null Het
Arhgef17 G A 7: 100,579,275 (GRCm39) P558S probably benign Het
Bhlha9 T A 11: 76,563,915 (GRCm39) S181T possibly damaging Het
Birc6 A G 17: 74,929,100 (GRCm39) T2331A probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc7b A T 8: 129,799,171 (GRCm39) R83W unknown Het
Churc1 T A 12: 76,820,052 (GRCm39) N20K probably benign Het
Clec9a T C 6: 129,392,198 (GRCm39) S63P possibly damaging Het
Cndp2 T A 18: 84,690,202 (GRCm39) M247L probably benign Het
Cpvl C T 6: 53,902,275 (GRCm39) S329N probably benign Het
Cracd T C 5: 77,005,316 (GRCm39) V559A unknown Het
Csmd1 A T 8: 16,281,285 (GRCm39) W747R probably damaging Het
Dhx40 A T 11: 86,662,759 (GRCm39) D644E probably damaging Het
Disp2 A T 2: 118,621,961 (GRCm39) N898Y probably benign Het
Dnah3 G A 7: 119,538,051 (GRCm39) H666Y probably damaging Het
Dnajc2 C T 5: 21,975,538 (GRCm39) D222N possibly damaging Het
Epha5 A T 5: 84,215,267 (GRCm39) M826K possibly damaging Het
Fam13a T C 6: 58,931,284 (GRCm39) D432G possibly damaging Het
Fkbp6 A G 5: 135,368,398 (GRCm39) L276P probably damaging Het
Gars1 G T 6: 55,027,371 (GRCm39) W155L probably damaging Het
Gm12258 C A 11: 58,750,518 (GRCm39) H564Q unknown Het
Gm3127 A G 14: 15,425,832 (GRCm39) D79G possibly damaging Het
H2-Q10 T A 17: 35,781,735 (GRCm39) I119N probably damaging Het
Harbi1 A G 2: 91,542,626 (GRCm39) D29G possibly damaging Het
Hp1bp3 T A 4: 137,953,307 (GRCm39) M155K probably damaging Het
Itpr3 T G 17: 27,317,088 (GRCm39) M781R probably damaging Het
Kat7 T C 11: 95,190,907 (GRCm39) K101E probably benign Het
Kif7 A G 7: 79,360,478 (GRCm39) I299T possibly damaging Het
Krt34 A G 11: 99,930,811 (GRCm39) probably null Het
Krt81 A G 15: 101,358,087 (GRCm39) Y389H probably damaging Het
Lrrc36 A T 8: 106,176,130 (GRCm39) E168V probably benign Het
Lrrk1 A G 7: 65,912,463 (GRCm39) V1699A probably benign Het
Mdh1b T A 1: 63,754,429 (GRCm39) S380C probably benign Het
Mlkl A G 8: 112,060,251 (GRCm39) L45P probably damaging Het
Mmp13 T A 9: 7,274,004 (GRCm39) D159E probably benign Het
Nanp A G 2: 150,872,835 (GRCm39) V31A possibly damaging Het
Nbeal1 T C 1: 60,283,983 (GRCm39) S846P probably damaging Het
Neb G A 2: 52,073,311 (GRCm39) R5982C probably damaging Het
Or11h6 G A 14: 50,879,849 (GRCm39) G31E probably benign Het
Pcdhb11 A T 18: 37,556,530 (GRCm39) N620I probably damaging Het
Pcdhgb2 A G 18: 37,824,260 (GRCm39) Y417C probably damaging Het
Pwp2 T C 10: 78,014,395 (GRCm39) T402A probably benign Het
Ralgapb T C 2: 158,324,423 (GRCm39) probably null Het
Rexo4 G A 2: 26,854,242 (GRCm39) A30V probably benign Het
Rrs1 T A 1: 9,616,623 (GRCm39) M292K possibly damaging Het
Shroom3 C A 5: 92,831,566 (GRCm39) P14Q possibly damaging Het
Slc16a10 T A 10: 39,916,754 (GRCm39) I383F probably damaging Het
Slco1a8 C A 6: 141,933,436 (GRCm39) E470* probably null Het
Slk C A 19: 47,609,255 (GRCm39) P736Q probably damaging Het
St6galnac2 T A 11: 116,570,811 (GRCm39) H259L probably benign Het
Stambpl1 T G 19: 34,213,721 (GRCm39) S317A possibly damaging Het
Syvn1 A G 19: 6,101,235 (GRCm39) T429A unknown Het
Tbc1d9 A T 8: 83,985,979 (GRCm39) E828V probably damaging Het
Tmtc2 A C 10: 105,107,358 (GRCm39) probably null Het
Trmt11 A G 10: 30,463,497 (GRCm39) I206T possibly damaging Het
Trp53bp1 A C 2: 121,038,380 (GRCm39) L1436R probably damaging Het
Ttll5 C T 12: 86,003,406 (GRCm39) R1095W probably benign Het
Utp20 A G 10: 88,634,203 (GRCm39) F831S probably damaging Het
Vmn2r109 T A 17: 20,773,117 (GRCm39) Q501H probably damaging Het
Zcchc17 A G 4: 130,230,812 (GRCm39) probably null Het
Zfhx3 A G 8: 109,678,201 (GRCm39) M3084V probably benign Het
Zfp81 T C 17: 33,555,791 (GRCm39) N12S possibly damaging 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
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
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'- GCAAGATTTGTCTTTTCAAGCTCC -3'
(R):5'- AAAGTGAGTTGTGTCTTCCTGC -3'

Sequencing Primer
(F):5'- TGTCTTTTCAAGCTCCTTTGTAAG -3'
(R):5'- GCTTTGAGTACCCTACCACCAC -3'
Posted On 2019-11-12