Incidental Mutation 'R1711:Nebl'
ID 190518
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 039744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1711 (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 A at 17393565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 603 (T603S)
Ref Sequence ENSEMBL: ENSMUSP00000117805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000131957] [ENSMUST00000132418] [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 damaging
Transcript: ENSMUST00000124270
AA Change: T603S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: T603S

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 possibly damaging
Transcript: ENSMUST00000177966
AA Change: T37S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137567
Gene: ENSMUSG00000053702
AA Change: T37S

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 noncoding transcript
Transcript: ENSMUST00000137253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150194
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,418,039 (GRCm39) T741I possibly damaging Het
Aadacl4fm2 A T 4: 144,281,976 (GRCm39) I272K probably damaging Het
Acot3 A T 12: 84,100,347 (GRCm39) Q41L probably damaging Het
Actl7b G A 4: 56,740,165 (GRCm39) Q398* probably null Het
Adgrb2 C A 4: 129,886,417 (GRCm39) Q186K probably damaging Het
Akr1a1 A G 4: 116,495,171 (GRCm39) probably null Het
Ap3s2 A T 7: 79,530,238 (GRCm39) F192L probably damaging Het
Apobr T G 7: 126,184,151 (GRCm39) probably null Het
Arhgap5 A G 12: 52,566,128 (GRCm39) N1033S probably damaging Het
Arid3c G T 4: 41,725,947 (GRCm39) R219S probably damaging Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Cacna1d T C 14: 29,788,013 (GRCm39) K1619R probably damaging Het
Caps2 A T 10: 112,026,883 (GRCm39) D223V possibly damaging Het
Cd3g A C 9: 44,885,640 (GRCm39) L35R probably damaging Het
Cdh23 A T 10: 60,359,315 (GRCm39) V261E probably benign Het
Cfap54 T G 10: 92,846,882 (GRCm39) T1028P probably damaging Het
Ch25h C A 19: 34,451,686 (GRCm39) V281L probably benign Het
Cip2a A C 16: 48,837,849 (GRCm39) I850L probably benign Het
Clu G T 14: 66,218,354 (GRCm39) V405L possibly damaging Het
Col6a3 A T 1: 90,757,935 (GRCm39) H6Q probably damaging Het
Cps1 G A 1: 67,207,533 (GRCm39) probably null Het
Ctr9 T C 7: 110,654,870 (GRCm39) S1134P unknown Het
Cts7 C T 13: 61,500,624 (GRCm39) G308S probably damaging Het
Cyp2c39 C A 19: 39,555,335 (GRCm39) T385K probably damaging Het
Dennd5a A T 7: 109,517,919 (GRCm39) D596E probably benign Het
Disc1 T A 8: 125,851,349 (GRCm39) I413K probably benign Het
Dll3 C T 7: 27,993,922 (GRCm39) G505D probably damaging Het
Dnah3 A G 7: 119,677,794 (GRCm39) W377R probably damaging Het
Dop1b A G 16: 93,596,814 (GRCm39) D1792G probably damaging Het
Dpep3 T A 8: 106,700,325 (GRCm39) R460S probably benign Het
Ebf4 A G 2: 130,200,751 (GRCm39) N302S probably damaging Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Egflam T C 15: 7,319,396 (GRCm39) E194G possibly damaging Het
Ep400 A T 5: 110,841,174 (GRCm39) probably benign Het
Ercc6 T C 14: 32,248,133 (GRCm39) M228T probably damaging Het
Fbxo9 T C 9: 77,994,529 (GRCm39) T264A probably damaging Het
Fcrl5 C A 3: 87,364,721 (GRCm39) P486T possibly damaging Het
Fyb1 T C 15: 6,609,960 (GRCm39) F178L probably damaging Het
Gaa T A 11: 119,171,286 (GRCm39) I646N probably damaging Het
Gm5431 A T 11: 48,785,853 (GRCm39) V174E possibly damaging Het
Gnpat T G 8: 125,613,691 (GRCm39) probably null Het
Gucy1a2 G T 9: 3,759,622 (GRCm39) R476I probably benign Het
Hars1 A G 18: 36,904,156 (GRCm39) L241P probably damaging Het
Haus5 G A 7: 30,357,328 (GRCm39) Q399* probably null Het
Hephl1 T C 9: 14,970,542 (GRCm39) E984G probably damaging Het
Hmces C T 6: 87,898,574 (GRCm39) Q132* probably null Het
Hsp90b1 G T 10: 86,530,389 (GRCm39) T490K probably damaging Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Ipo13 G T 4: 117,761,719 (GRCm39) H465Q probably benign Het
Isca2 C A 12: 84,820,393 (GRCm39) T31K probably damaging Het
Itga9 T C 9: 118,527,529 (GRCm39) V560A probably benign Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Kcnj5 A G 9: 32,233,865 (GRCm39) I150T probably damaging Het
Kmt2a A G 9: 44,752,918 (GRCm39) I1419T unknown Het
Lix1 T C 17: 17,666,320 (GRCm39) F160L possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Map4k1 A T 7: 28,688,777 (GRCm39) Q276L possibly damaging Het
Mmp9 G A 2: 164,791,342 (GRCm39) G171S probably damaging Het
Mvp C A 7: 126,594,907 (GRCm39) probably null Het
Mylk3 T A 8: 86,091,460 (GRCm39) E115V probably damaging Het
Nudt15 T C 14: 73,760,776 (GRCm39) D105G probably benign Het
Or12j2 A C 7: 139,915,912 (GRCm39) T46P possibly damaging Het
Or2w1b G A 13: 21,300,476 (GRCm39) V205I probably benign Het
Or51b6 T A 7: 103,555,906 (GRCm39) W87R probably damaging Het
Or52i2 G T 7: 102,319,369 (GRCm39) V81L probably damaging Het
Or52l1 A T 7: 104,829,967 (GRCm39) H199Q probably damaging Het
Or8g2b A G 9: 39,751,581 (GRCm39) M284V probably benign Het
Osbpl9 A T 4: 108,923,415 (GRCm39) C495S probably damaging Het
Pamr1 A G 2: 102,471,197 (GRCm39) T507A probably benign Het
Pcdhb9 T A 18: 37,536,380 (GRCm39) C791* probably null Het
Pcgf6 T C 19: 47,038,957 (GRCm39) E101G probably damaging Het
Pdgfrl A T 8: 41,438,831 (GRCm39) I256F probably benign Het
Pdzd7 T C 19: 45,033,950 (GRCm39) R45G possibly damaging Het
Pecr C T 1: 72,316,568 (GRCm39) V46I possibly damaging Het
Pgr A G 9: 8,922,715 (GRCm39) probably null Het
Pik3c2a A T 7: 116,017,162 (GRCm39) Y198* probably null Het
Pp2d1 T A 17: 53,822,338 (GRCm39) M243L possibly damaging Het
Ppp1r1a T A 15: 103,441,919 (GRCm39) I50L possibly damaging Het
Proc T C 18: 32,260,459 (GRCm39) D222G probably benign Het
Ptprq T A 10: 107,370,560 (GRCm39) R2044* probably null Het
Ranbp2 T C 10: 58,296,341 (GRCm39) V326A probably benign Het
Reep6 T A 10: 80,169,815 (GRCm39) F122I possibly damaging Het
Rubcn C A 16: 32,663,471 (GRCm39) R388S probably damaging Het
Rusc1 A G 3: 88,996,600 (GRCm39) L62P probably damaging Het
Satb2 T C 1: 56,889,448 (GRCm39) N423S probably damaging Het
Scart1 G T 7: 139,800,522 (GRCm39) C101F probably damaging Het
Serpinb9d A G 13: 33,384,731 (GRCm39) K236R probably benign Het
Slc4a7 A G 14: 14,765,709 (GRCm38) R680G probably benign Het
Slitrk1 T A 14: 109,150,528 (GRCm39) Y61F probably benign Het
Son A G 16: 91,457,114 (GRCm39) probably benign Het
Sparc T A 11: 55,286,602 (GRCm39) probably null Het
Spon2 A G 5: 33,373,729 (GRCm39) F194S probably damaging Het
Spta1 A G 1: 174,068,608 (GRCm39) E2136G probably damaging Het
Stat4 T C 1: 52,146,084 (GRCm39) S746P probably damaging Het
Stk31 T A 6: 49,446,238 (GRCm39) S958R probably benign Het
Stom T A 2: 35,205,929 (GRCm39) I267F probably damaging Het
Stx12 A T 4: 132,585,788 (GRCm39) D197E probably damaging Het
Taok3 A T 5: 117,393,991 (GRCm39) N588I possibly damaging Het
Tgs1 A G 4: 3,598,658 (GRCm39) D657G probably damaging Het
Trim6 A G 7: 103,882,044 (GRCm39) T432A probably damaging Het
Trim72 C G 7: 127,603,757 (GRCm39) C34W probably damaging Het
Trpc4ap A T 2: 155,499,664 (GRCm39) I286N probably benign Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Utp4 T A 8: 107,645,352 (GRCm39) I583N probably damaging Het
Wdfy2 G T 14: 63,181,546 (GRCm39) M225I probably benign Het
Wfdc1 A G 8: 120,407,776 (GRCm39) T134A probably benign Het
Wnt9b A G 11: 103,622,954 (GRCm39) S150P probably damaging Het
Zbtb46 A T 2: 181,053,477 (GRCm39) F412I probably damaging Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp11 A T 5: 129,733,737 (GRCm39) Y575N probably benign Het
Zfp687 T C 3: 94,919,200 (GRCm39) M191V 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
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'- TGGAAGGGAGACCTTTGATAGCTGATG -3'
(R):5'- AGTCACAAATGAGACCTGTATTCACACC -3'

Sequencing Primer
(F):5'- tgctccctccttgatgataatg -3'
(R):5'- TGTATTCACACCACTATAAAACCTTG -3'
Posted On 2014-05-14