Incidental Mutation 'R5933:Nebl'
ID 461975
Institutional Source Beutler Lab
Gene Symbol Nebl
Ensembl Gene ENSMUSG00000053702
Gene Name nebulette
Synonyms Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik
MMRRC Submission 044127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5933 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 17348720-17736275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17408998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 367 (H367Y)
Ref Sequence ENSEMBL: ENSMUSP00000121313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000131957] [ENSMUST00000132418] [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 probably benign
Transcript: ENSMUST00000124270
AA Change: H402Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: H402Y

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 benign
Transcript: ENSMUST00000131957
AA Change: H367Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: H367Y

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
AA Change: H367Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122024
Gene: ENSMUSG00000053702
AA Change: H367Y

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
AA Change: H367Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121313
Gene: ENSMUSG00000053702
AA Change: H367Y

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 94% (99/105)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,776,109 (GRCm39) P1766L probably damaging Het
Abca13 A G 11: 9,199,658 (GRCm39) Q119R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aipl1 A C 11: 71,921,108 (GRCm39) C237G probably benign Het
Ankdd1a C T 9: 65,416,978 (GRCm39) A154T probably benign Het
Arglu1 T C 8: 8,740,047 (GRCm39) S91G probably benign Het
Arhgef33 C A 17: 80,644,709 (GRCm39) H13N probably benign Het
Atp1a4 A G 1: 172,059,841 (GRCm39) I796T possibly damaging Het
Birc6 C G 17: 74,906,232 (GRCm39) S1374R probably damaging Het
Birc6 T A 17: 74,906,233 (GRCm39) S72T probably damaging Het
Bmpr1b T C 3: 141,577,128 (GRCm39) *59W probably null Het
Btbd16 A T 7: 130,386,011 (GRCm39) Q63L probably damaging Het
Cacna1c C T 6: 118,589,541 (GRCm39) R1592H probably damaging Het
Caps2 G A 10: 112,051,351 (GRCm39) E541K probably benign Het
Card9 T C 2: 26,242,509 (GRCm39) E500G probably damaging Het
Carnmt1 T C 19: 18,681,469 (GRCm39) V396A probably benign Het
Ccnl1 T A 3: 65,855,763 (GRCm39) K320M probably damaging Het
Cdh20 A C 1: 104,912,396 (GRCm39) D550A probably damaging Het
Cdhr1 T A 14: 36,811,419 (GRCm39) T231S probably benign Het
Cenpe T C 3: 134,967,389 (GRCm39) V2177A probably benign Het
Cfap69 A G 5: 5,690,183 (GRCm39) C161R probably damaging Het
Ctsd C T 7: 141,930,316 (GRCm39) V403I probably benign Het
Cyth1 C T 11: 118,076,585 (GRCm39) probably null Het
Dazl A T 17: 50,594,781 (GRCm39) probably null Het
Disp3 A T 4: 148,325,770 (GRCm39) C1329* probably null Het
Dld C T 12: 31,383,982 (GRCm39) V374I probably benign Het
Dnah7c T C 1: 46,558,375 (GRCm39) Y494H probably damaging Het
Dnttip2 T A 3: 122,069,217 (GRCm39) M144K probably benign Het
Drc1 A T 5: 30,502,873 (GRCm39) D132V probably damaging Het
Enpp6 A G 8: 47,519,039 (GRCm39) D269G probably benign Het
Ephx4 T A 5: 107,551,631 (GRCm39) probably null Het
Evl T C 12: 108,649,516 (GRCm39) S345P possibly damaging Het
Fam193a A T 5: 34,623,024 (GRCm39) D1204V probably damaging Het
Fat2 A T 11: 55,174,877 (GRCm39) D1945E probably damaging Het
Fat4 T C 3: 39,005,524 (GRCm39) probably null Het
Fbln7 A T 2: 128,719,418 (GRCm39) M72L probably benign Het
Flnc T C 6: 29,441,105 (GRCm39) V353A probably damaging Het
Fry T C 5: 150,314,265 (GRCm39) probably benign Het
Galnt14 A T 17: 73,833,300 (GRCm39) C225S probably benign Het
Gapvd1 T C 2: 34,574,303 (GRCm39) S1265G probably benign Het
Gm13030 A G 4: 138,598,515 (GRCm39) F136S unknown Het
Gucy1a1 T C 3: 82,002,114 (GRCm39) H655R probably damaging Het
Hk1 A G 10: 62,105,773 (GRCm39) L890P probably damaging Het
Igfn1 T A 1: 135,898,341 (GRCm39) R742* probably null Het
Igkv12-49 T C 6: 69,693,553 (GRCm39) noncoding transcript Het
Igkv2-109 T A 6: 68,279,965 (GRCm39) L62Q possibly damaging Het
Itgb3 A G 11: 104,528,805 (GRCm39) T311A possibly damaging Het
Kl A G 5: 150,912,948 (GRCm39) E899G probably damaging Het
Kyat3 A T 3: 142,429,021 (GRCm39) D151V probably damaging Het
Morc2b A T 17: 33,357,583 (GRCm39) M63K possibly damaging Het
Mtbp T A 15: 55,434,723 (GRCm39) F298L possibly damaging Het
Mtmr3 C T 11: 4,448,951 (GRCm39) V272I probably benign Het
Muc4 A G 16: 32,574,480 (GRCm39) T977A probably benign Het
Nop58 T A 1: 59,743,824 (GRCm39) Y274* probably null Het
Nuak1 T A 10: 84,210,666 (GRCm39) Q474L probably damaging Het
Obscn A G 11: 58,889,331 (GRCm39) S7523P unknown Het
Oosp3 T A 19: 11,682,753 (GRCm39) D140E probably benign Het
Or52z15 T A 7: 103,332,680 (GRCm39) C242S probably damaging Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Patl1 A G 19: 11,917,136 (GRCm39) N661S probably benign Het
Pcyox1l G T 18: 61,831,544 (GRCm39) N238K probably benign Het
Pmch A G 10: 87,927,011 (GRCm39) T5A probably benign Het
Polr3h A G 15: 81,800,835 (GRCm39) L169P probably damaging Het
Ptpn4 A G 1: 119,615,453 (GRCm39) V567A probably damaging Het
Rasgrp2 T G 19: 6,452,543 (GRCm39) F39V probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,401 (GRCm39) probably null Het
Slc46a3 A T 5: 147,830,700 (GRCm39) N44K probably benign Het
Slc9b1 T A 3: 135,099,756 (GRCm39) N425K probably benign Het
Slfn14 A T 11: 83,170,288 (GRCm39) V452E probably damaging Het
Slfn8 A T 11: 82,894,161 (GRCm39) M826K probably benign Het
Slit3 G A 11: 35,520,578 (GRCm39) V572M probably benign Het
Smr3a C A 5: 88,155,873 (GRCm39) probably null Het
Snap29 T C 16: 17,224,194 (GRCm39) S70P probably damaging Het
Svopl T A 6: 37,993,949 (GRCm39) probably benign Het
Tbc1d17 A T 7: 44,494,761 (GRCm39) F186I probably damaging Het
Tgm6 T C 2: 129,983,176 (GRCm39) V255A probably damaging Het
Tjp1 G T 7: 64,952,600 (GRCm39) T1498K probably benign Het
Tkfc C A 19: 10,574,711 (GRCm39) E176D probably benign Het
Tmem102 C T 11: 69,694,506 (GRCm39) V489I probably damaging Het
Ttn A G 2: 76,551,781 (GRCm39) V22930A probably damaging Het
Tyms A T 5: 30,278,357 (GRCm39) probably null Het
Uaca T A 9: 60,748,238 (GRCm39) D67E probably damaging Het
Unc119b G A 5: 115,265,508 (GRCm39) probably benign Het
Usp29 A T 7: 6,964,744 (GRCm39) T196S probably benign Het
Usp37 A G 1: 74,525,141 (GRCm39) S228P probably damaging Het
Usp42 C A 5: 143,701,270 (GRCm39) A918S probably benign Het
Vmn2r72 T A 7: 85,387,058 (GRCm39) L835F probably benign Het
Vps13a T C 19: 16,637,894 (GRCm39) T2396A probably benign Het
Whrn A T 4: 63,412,945 (GRCm39) S176T probably damaging Het
Zbtb42 T C 12: 112,647,055 (GRCm39) F410S probably damaging Het
Zfp616 T C 11: 73,973,952 (GRCm39) S74P probably damaging Het
Zswim6 A G 13: 107,880,642 (GRCm39) noncoding transcript 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
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'- AATGCAAGGCTCCCTCAGTG -3'
(R):5'- AACATTCAGCATTGGAGGTGC -3'

Sequencing Primer
(F):5'- CCTCAGTGAGGGCCAGAATAAAG -3'
(R):5'- TTTTGGTAGAAGCCTGTAATTGAC -3'
Posted On 2017-02-28