Incidental Mutation 'R8929:Nebl'
ID 679720
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 068773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8929 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 17397991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 481 (E481*)
Ref Sequence ENSEMBL: ENSMUSP00000118525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000131957] [ENSMUST00000132418] [ENSMUST00000145492] [ENSMUST00000177966]
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 probably null
Transcript: ENSMUST00000124270
AA Change: E516*
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: E516*

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 probably null
Transcript: ENSMUST00000131957
AA Change: E481*
SMART Domains Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: E481*

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 probably null
Transcript: ENSMUST00000132418
AA Change: E444*
SMART Domains Protein: ENSMUSP00000122024
Gene: ENSMUSG00000053702
AA Change: E444*

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
SMART Domains Protein: ENSMUSP00000121313
Gene: ENSMUSG00000053702

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
Predicted Effect probably benign
Transcript: ENSMUST00000177966
SMART Domains Protein: ENSMUSP00000137567
Gene: ENSMUSG00000053702

DomainStartEndE-ValueType
NEBU 5 35 2.23e-4 SMART
NEBU 36 66 3.28e-2 SMART
NEBU 67 97 6.6e-7 SMART
NEBU 98 120 2e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1 A G 2: 179,814,730 (GRCm39) K99E unknown Het
Agxt2 C A 15: 10,393,830 (GRCm39) L375I probably benign Het
Akap13 T C 7: 75,258,752 (GRCm39) S459P probably benign Het
Arfgef3 T A 10: 18,479,203 (GRCm39) T1471S probably damaging Het
Atxn2l C G 7: 126,092,928 (GRCm39) probably benign Het
Azi2 C A 9: 117,879,044 (GRCm39) T141K probably damaging Het
B4galt6 A G 18: 20,821,422 (GRCm39) S369P possibly damaging Het
BC051019 C T 7: 109,315,233 (GRCm39) E341K probably damaging Het
Bdh1 G A 16: 31,275,712 (GRCm39) D278N probably benign Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cdipt T G 7: 126,578,825 (GRCm39) D205E probably damaging Het
Clec4b1 G T 6: 123,046,728 (GRCm39) probably null Het
Clip4 T C 17: 72,138,203 (GRCm39) L467S probably damaging Het
Cndp2 A G 18: 84,693,298 (GRCm39) I154T probably benign Het
Cyp2j5 T C 4: 96,546,977 (GRCm39) N179S possibly damaging Het
Dpf1 A T 7: 29,009,174 (GRCm39) I100F probably benign Het
Dppa5a A G 9: 78,275,165 (GRCm39) S46P probably benign Het
Epyc A G 10: 97,511,607 (GRCm39) D200G probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fndc3b C T 3: 27,596,253 (GRCm39) S112N probably damaging Het
Fras1 T C 5: 96,917,366 (GRCm39) V3462A probably damaging Het
Fstl5 T C 3: 76,615,138 (GRCm39) I733T probably damaging Het
Gdf3 C T 6: 122,586,756 (GRCm39) R57Q Het
Grwd1 A T 7: 45,480,056 (GRCm39) D50E probably damaging Het
Hgf G T 5: 16,798,988 (GRCm39) D339Y probably benign Het
Kat7 T C 11: 95,196,982 (GRCm39) D19G probably damaging Het
Lefty1 A G 1: 180,765,290 (GRCm39) E286G probably damaging Het
Lrriq3 T C 3: 154,893,819 (GRCm39) F507L probably damaging Het
Mcm4 T A 16: 15,448,289 (GRCm39) T423S probably benign Het
Metap1 T C 3: 138,174,643 (GRCm39) K247E probably benign Het
Muc4 T G 16: 32,575,285 (GRCm39) I1290S probably benign Het
Muc4 A T 16: 32,754,017 (GRCm38) T1298S possibly damaging Het
Nars1 G T 18: 64,644,895 (GRCm39) H82Q probably benign Het
Ncapg2 A T 12: 116,415,983 (GRCm39) E1121V probably damaging Het
Pdap1 T C 5: 145,069,672 (GRCm39) E111G probably damaging Het
Pds5b T C 5: 150,643,379 (GRCm39) F67S probably damaging Het
Pole T C 5: 110,445,654 (GRCm39) F510S probably damaging Het
Ptpn21 A T 12: 98,655,396 (GRCm39) Y524N probably damaging Het
Ptpn4 A T 1: 119,595,278 (GRCm39) M887K probably damaging Het
Sec24b T C 3: 129,803,507 (GRCm39) D414G possibly damaging Het
Sema5b C A 16: 35,467,737 (GRCm39) probably benign Het
Slain1 A T 14: 103,923,164 (GRCm39) T252S probably damaging Het
Slc36a3 A G 11: 55,028,137 (GRCm39) F164S probably damaging Het
Slc39a7 T C 17: 34,249,964 (GRCm39) H90R unknown Het
Slc44a4 A T 17: 35,136,508 (GRCm39) D58V probably damaging Het
Slc5a4a A G 10: 76,006,617 (GRCm39) T340A probably benign Het
Sod2 C A 17: 13,233,974 (GRCm39) N195K probably damaging Het
Spart T C 3: 55,035,979 (GRCm39) S572P possibly damaging Het
Sytl2 C T 7: 90,024,810 (GRCm39) A266V probably benign Het
Tbx15 T A 3: 99,222,219 (GRCm39) D227E probably damaging Het
Tfap2a A G 13: 40,882,308 (GRCm39) V26A probably benign Het
Trank1 T A 9: 111,208,003 (GRCm39) F1749L possibly damaging Het
Trpc6 A G 9: 8,643,411 (GRCm39) probably benign Het
Ttn A T 2: 76,706,924 (GRCm39) I9089N unknown Het
Tut7 A G 13: 59,947,942 (GRCm39) V793A probably benign Het
Unc13a T C 8: 72,103,835 (GRCm39) T866A probably benign Het
Vmn1r212 T A 13: 23,067,494 (GRCm39) S280C possibly damaging Het
Vmn2r82 A G 10: 79,232,541 (GRCm39) T847A probably benign Het
Zer1 A G 2: 30,000,881 (GRCm39) L180P probably damaging Het
Zfp445 T G 9: 122,682,732 (GRCm39) Y403S 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
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'- TCTGGGATATCCATGTTCACTTG -3'
(R):5'- TACACAAAGCCTCCTGGTTATG -3'

Sequencing Primer
(F):5'- GGGATATCCATGTTCACTTGCATTC -3'
(R):5'- TCACTGCATATCATATTTCTGTCTTG -3'
Posted On 2021-08-02