Incidental Mutation 'R2325:Nebl'
ID 244868
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 040316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2325 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17397827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 490 (K490E)
Ref Sequence ENSEMBL: ENSMUSP00000118525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000131957] [ENSMUST00000132418] [ENSMUST00000177966] [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: K525E

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: K525E

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 noncoding transcript
Transcript: ENSMUST00000127912
Predicted Effect possibly damaging
Transcript: ENSMUST00000131957
AA Change: K490E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: K490E

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 benign
Transcript: ENSMUST00000132418
SMART Domains Protein: ENSMUSP00000122024
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 4.78e-4 SMART
NEBU 427 450 6.81e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137253
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
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Atoh7 C A 10: 62,935,924 (GRCm39) probably benign Het
Atp2b1 C T 10: 98,854,757 (GRCm39) Q219* probably null Het
B3galt2 A G 1: 143,522,926 (GRCm39) D354G probably benign Het
Cdh9 A G 15: 16,778,286 (GRCm39) R34G probably benign Het
Cyp4x1 A T 4: 114,981,576 (GRCm39) C126S probably benign Het
Dse A T 10: 34,060,043 (GRCm39) S21T probably benign Het
Ell2 T A 13: 75,917,745 (GRCm39) H558Q probably damaging Het
Elp1 A T 4: 56,784,622 (GRCm39) M457K probably benign Het
Esco2 A T 14: 66,064,027 (GRCm39) probably null Het
Fam170a A G 18: 50,414,917 (GRCm39) K188E possibly damaging Het
Gin1 A C 1: 97,720,286 (GRCm39) Y516S probably damaging Het
Gm8439 A G 4: 120,446,048 (GRCm39) E16G unknown Het
Gtf2b A G 3: 142,485,851 (GRCm39) T176A probably damaging Het
Kcnh6 C T 11: 105,924,661 (GRCm39) S822F probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp8 A T 4: 107,721,206 (GRCm39) D602V probably benign Het
Med12l A G 3: 59,139,875 (GRCm39) T817A probably damaging Het
Mroh9 A C 1: 162,854,099 (GRCm39) probably null Het
N4bp1 T C 8: 87,575,088 (GRCm39) I736V probably damaging Het
P2ry1 A T 3: 60,910,999 (GRCm39) K46M probably damaging Het
Ppp1r37 A T 7: 19,266,609 (GRCm39) L426H probably damaging Het
Prkci T A 3: 31,085,217 (GRCm39) probably null Het
Prss35 G A 9: 86,638,357 (GRCm39) G376R probably damaging Het
Scube2 C G 7: 109,443,161 (GRCm39) C226S probably damaging Het
Slc26a5 T G 5: 22,024,692 (GRCm39) Y469S probably damaging Het
Stil T A 4: 114,889,904 (GRCm39) D797E probably benign Het
Thbs2 A T 17: 14,910,551 (GRCm39) probably null Het
Tmem132e C A 11: 82,325,341 (GRCm39) L114M probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Vmn1r173 T A 7: 23,402,537 (GRCm39) C257* probably null Het
Zc3h15 G A 2: 83,483,783 (GRCm39) G53S probably damaging Het
Zfp462 A C 4: 55,013,712 (GRCm39) I1893L 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
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
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'- TAGCAATGCAAGTCACATTTGGC -3'
(R):5'- TCCAGAGAGCTAAGAGGGCATC -3'

Sequencing Primer
(F):5'- GAAGGCAATGTCTTCAGAATGTTGTC -3'
(R):5'- ATCCGAGATGGCCAGCC -3'
Posted On 2014-10-30