Incidental Mutation 'R1364:Nebl'
ID 162843
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 039429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1364 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 17397848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137567 (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 benign
Transcript: ENSMUST00000124270
SMART Domains Protein: ENSMUSP00000117805
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 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 probably benign
Transcript: ENSMUST00000131957
SMART Domains Protein: ENSMUSP00000118525
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
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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.8%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T A 10: 20,848,055 (GRCm39) L488I probably damaging Het
Bltp1 T C 3: 37,041,179 (GRCm39) F2519S probably damaging Het
Cobll1 A G 2: 64,956,654 (GRCm39) probably benign Het
Csn1s1 T C 5: 87,825,443 (GRCm39) probably benign Het
D430041D05Rik A T 2: 103,985,363 (GRCm39) S1920T possibly damaging Het
Dnah17 T A 11: 118,016,432 (GRCm39) probably benign Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Fnbp1 T C 2: 30,949,043 (GRCm39) probably benign Het
Herc1 T A 9: 66,307,375 (GRCm39) L1023Q probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,351 (GRCm39) T333A probably benign Het
Kcnt1 A G 2: 25,798,106 (GRCm39) M906V probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mid1 A C X: 168,769,090 (GRCm39) N215H probably damaging Het
Mug1 T A 6: 121,858,672 (GRCm39) L1130Q probably damaging Het
Or10q1b T C 19: 13,682,809 (GRCm39) V206A probably benign Het
Otud7b A G 3: 96,058,768 (GRCm39) D320G probably damaging Het
Piezo1 T C 8: 123,225,310 (GRCm39) E563G possibly damaging Het
Prkd3 T C 17: 79,264,687 (GRCm39) T643A probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Ripk3 A C 14: 56,022,717 (GRCm39) probably null Het
Sgsm3 T C 15: 80,892,143 (GRCm39) F237S probably damaging Het
Slit3 G A 11: 35,560,934 (GRCm39) V960I probably benign Het
Sptbn2 T C 19: 4,782,693 (GRCm39) L543P probably damaging Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Unkl A G 17: 25,408,597 (GRCm39) I54V probably benign Het
Wdr75 A G 1: 45,838,222 (GRCm39) T44A 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
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
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'- TGCGGGACTTTGGCATCTCATAAC -3'
(R):5'- TGTCCAGAGAGCTAAGAGGGCATC -3'

Sequencing Primer
(F):5'- TGGCATCTCATAACGGCTAC -3'
(R):5'- AGGGCATCCGAGATGGC -3'
Posted On 2014-03-17