Incidental Mutation 'IGL03023:Nbeal1'
ID 408052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nbeal1
Ensembl Gene ENSMUSG00000073664
Gene Name neurobeachin like 1
Synonyms A530083I02Rik, A530050O19Rik, ALS2CR17, 2310076G13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03023
Quality Score
Status
Chromosome 1
Chromosomal Location 60219758-60377487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60292572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1075 (Y1075H)
Ref Sequence ENSEMBL: ENSMUSP00000124056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160834]
AlphaFold E9PYP2
Predicted Effect probably damaging
Transcript: ENSMUST00000160834
AA Change: Y1075H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124056
Gene: ENSMUSG00000073664
AA Change: Y1075H

DomainStartEndE-ValueType
low complexity region 522 541 N/A INTRINSIC
Pfam:Laminin_G_3 567 801 8.3e-9 PFAM
low complexity region 1383 1401 N/A INTRINSIC
low complexity region 1849 1865 N/A INTRINSIC
Pfam:PH_BEACH 1882 1975 4.9e-32 PFAM
Beach 1998 2278 7.2e-199 SMART
Blast:Beach 2342 2405 6e-30 BLAST
WD40 2425 2463 5.52e-2 SMART
WD40 2475 2514 4.95e-4 SMART
WD40 2604 2649 7.64e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188450
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(16) : Targeted(1) Gene trapped(15)

Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,859,419 (GRCm39) D28G probably damaging Het
Btaf1 C T 19: 36,987,415 (GRCm39) R1746C possibly damaging Het
Comp T C 8: 70,831,260 (GRCm39) probably benign Het
Cspg4b A G 13: 113,488,275 (GRCm39) D99G probably benign Het
Cyp2d9 A G 15: 82,339,719 (GRCm39) T313A probably damaging Het
Cyp3a59 T A 5: 146,022,660 (GRCm39) D55E probably benign Het
Dysf A G 6: 84,169,989 (GRCm39) Y1790C probably damaging Het
Fmo3 A C 1: 162,786,034 (GRCm39) F319V probably benign Het
Frem2 A T 3: 53,563,049 (GRCm39) V486D probably benign Het
Gucy2c A T 6: 136,679,794 (GRCm39) probably null Het
Hdac7 A T 15: 97,695,838 (GRCm39) Y674N probably damaging Het
Inpp5a G A 7: 139,105,702 (GRCm39) probably null Het
Jup T C 11: 100,271,518 (GRCm39) probably benign Het
Krt84 T C 15: 101,436,880 (GRCm39) T385A possibly damaging Het
Nphp4 A G 4: 152,608,692 (GRCm39) probably null Het
Or10ak11 A T 4: 118,687,449 (GRCm39) F63I probably damaging Het
Or12d17 A G 17: 37,777,885 (GRCm39) T263A probably benign Het
Or4p7 G A 2: 88,221,687 (GRCm39) C32Y probably damaging Het
Psmc4 T A 7: 27,742,285 (GRCm39) I264L possibly damaging Het
Rwdd4a T C 8: 47,995,803 (GRCm39) V61A probably benign Het
Setx A G 2: 29,035,914 (GRCm39) T800A probably benign Het
Vmn1r74 T C 7: 11,581,257 (GRCm39) C186R possibly damaging Het
Vsig2 A G 9: 37,453,708 (GRCm39) Y136C probably damaging Het
Other mutations in Nbeal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Nbeal1 APN 1 60,274,350 (GRCm39) nonsense probably null 0.00
IGL00334:Nbeal1 APN 1 60,321,042 (GRCm39) missense probably damaging 0.98
IGL00334:Nbeal1 APN 1 60,367,262 (GRCm39) missense probably damaging 1.00
IGL00514:Nbeal1 APN 1 60,256,384 (GRCm39) missense probably benign 0.31
IGL00596:Nbeal1 APN 1 60,220,900 (GRCm39) missense probably damaging 0.96
IGL00654:Nbeal1 APN 1 60,234,170 (GRCm39) critical splice acceptor site probably benign 0.00
IGL00757:Nbeal1 APN 1 60,234,302 (GRCm39) missense possibly damaging 0.82
IGL00771:Nbeal1 APN 1 60,274,512 (GRCm39) missense probably benign 0.11
IGL01315:Nbeal1 APN 1 60,320,500 (GRCm39) missense probably damaging 1.00
IGL01445:Nbeal1 APN 1 60,281,784 (GRCm39) critical splice donor site probably null
IGL01456:Nbeal1 APN 1 60,269,787 (GRCm39) missense probably damaging 1.00
IGL01458:Nbeal1 APN 1 60,281,784 (GRCm39) critical splice donor site probably null
IGL01535:Nbeal1 APN 1 60,256,414 (GRCm39) missense probably damaging 1.00
IGL01608:Nbeal1 APN 1 60,281,694 (GRCm39) critical splice acceptor site probably benign 0.00
IGL02006:Nbeal1 APN 1 60,311,418 (GRCm39) critical splice donor site probably null
IGL02105:Nbeal1 APN 1 60,292,660 (GRCm39) missense probably damaging 1.00
IGL02409:Nbeal1 APN 1 60,368,494 (GRCm39) missense probably benign 0.01
IGL02713:Nbeal1 APN 1 60,274,396 (GRCm39) missense possibly damaging 0.94
IGL02720:Nbeal1 APN 1 60,323,146 (GRCm39) missense probably damaging 0.98
IGL02887:Nbeal1 APN 1 60,326,603 (GRCm39) splice site probably benign
IGL02945:Nbeal1 APN 1 60,245,569 (GRCm39) missense probably damaging 1.00
IGL03114:Nbeal1 APN 1 60,317,886 (GRCm39) missense probably damaging 1.00
IGL03231:Nbeal1 APN 1 60,275,618 (GRCm39) missense probably benign 0.44
IGL03241:Nbeal1 APN 1 60,274,027 (GRCm39) missense possibly damaging 0.46
IGL03241:Nbeal1 APN 1 60,274,028 (GRCm39) missense probably benign 0.44
IGL03382:Nbeal1 APN 1 60,300,745 (GRCm39) critical splice donor site probably null
IGL03412:Nbeal1 APN 1 60,281,726 (GRCm39) nonsense probably null
coach UTSW 1 60,292,640 (GRCm39) nonsense probably null
Committee UTSW 1 60,332,062 (GRCm39) missense probably damaging 1.00
Disgrace UTSW 1 60,320,469 (GRCm39) nonsense probably null
Dravrah UTSW 1 60,323,251 (GRCm39) missense probably damaging 1.00
Harvard UTSW 1 60,274,722 (GRCm39) splice site probably null
horrified UTSW 1 60,283,983 (GRCm39) missense probably damaging 1.00
Lampoon UTSW 1 60,300,745 (GRCm39) critical splice donor site probably null
lawyer UTSW 1 60,349,383 (GRCm39) nonsense probably null
magistrate UTSW 1 60,233,756 (GRCm39) critical splice donor site probably null
Maratimus UTSW 1 60,331,047 (GRCm39) missense probably damaging 1.00
National UTSW 1 60,261,422 (GRCm39) missense possibly damaging 0.95
phainopepla UTSW 1 60,358,846 (GRCm39) missense probably damaging 1.00
R3875_Nbeal1_770 UTSW 1 60,233,758 (GRCm39) splice site probably benign
satirical UTSW 1 60,274,721 (GRCm39) critical splice donor site probably null
silky UTSW 1 60,370,037 (GRCm39) splice site probably benign
stiggs UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
3-1:Nbeal1 UTSW 1 60,303,431 (GRCm39) splice site probably benign
P0007:Nbeal1 UTSW 1 60,358,847 (GRCm39) missense probably damaging 0.98
P0028:Nbeal1 UTSW 1 60,331,096 (GRCm39) missense probably damaging 1.00
R0041:Nbeal1 UTSW 1 60,321,030 (GRCm39) missense probably benign 0.05
R0051:Nbeal1 UTSW 1 60,349,422 (GRCm39) missense probably benign 0.19
R0052:Nbeal1 UTSW 1 60,267,771 (GRCm39) splice site probably benign
R0054:Nbeal1 UTSW 1 60,326,560 (GRCm39) utr 3 prime probably benign
R0062:Nbeal1 UTSW 1 60,286,876 (GRCm39) missense probably benign 0.01
R0062:Nbeal1 UTSW 1 60,286,876 (GRCm39) missense probably benign 0.01
R0094:Nbeal1 UTSW 1 60,344,468 (GRCm39) missense possibly damaging 0.62
R0310:Nbeal1 UTSW 1 60,344,529 (GRCm39) splice site probably benign
R0324:Nbeal1 UTSW 1 60,332,032 (GRCm39) missense probably damaging 1.00
R0329:Nbeal1 UTSW 1 60,307,222 (GRCm39) missense probably damaging 1.00
R0330:Nbeal1 UTSW 1 60,307,222 (GRCm39) missense probably damaging 1.00
R0417:Nbeal1 UTSW 1 60,286,893 (GRCm39) missense probably benign 0.00
R0421:Nbeal1 UTSW 1 60,307,598 (GRCm39) missense probably benign 0.08
R0617:Nbeal1 UTSW 1 60,320,991 (GRCm39) nonsense probably null
R1034:Nbeal1 UTSW 1 60,329,165 (GRCm39) nonsense probably null
R1082:Nbeal1 UTSW 1 60,351,385 (GRCm39) missense probably damaging 0.99
R1123:Nbeal1 UTSW 1 60,299,428 (GRCm39) missense probably benign
R1187:Nbeal1 UTSW 1 60,233,687 (GRCm39) missense probably damaging 1.00
R1484:Nbeal1 UTSW 1 60,240,098 (GRCm39) missense probably damaging 1.00
R1594:Nbeal1 UTSW 1 60,344,450 (GRCm39) missense possibly damaging 0.91
R1651:Nbeal1 UTSW 1 60,239,278 (GRCm39) missense probably damaging 1.00
R1678:Nbeal1 UTSW 1 60,299,493 (GRCm39) missense probably benign 0.00
R1806:Nbeal1 UTSW 1 60,323,251 (GRCm39) missense probably damaging 1.00
R1937:Nbeal1 UTSW 1 60,307,100 (GRCm39) nonsense probably null
R1952:Nbeal1 UTSW 1 60,273,999 (GRCm39) missense probably damaging 1.00
R1953:Nbeal1 UTSW 1 60,273,999 (GRCm39) missense probably damaging 1.00
R2038:Nbeal1 UTSW 1 60,245,503 (GRCm39) missense probably benign 0.00
R2044:Nbeal1 UTSW 1 60,358,846 (GRCm39) missense probably damaging 1.00
R2050:Nbeal1 UTSW 1 60,332,123 (GRCm39) splice site probably null
R2055:Nbeal1 UTSW 1 60,350,216 (GRCm39) missense probably damaging 1.00
R2064:Nbeal1 UTSW 1 60,309,515 (GRCm39) missense possibly damaging 0.89
R2100:Nbeal1 UTSW 1 60,344,430 (GRCm39) splice site probably null
R2181:Nbeal1 UTSW 1 60,317,939 (GRCm39) missense probably damaging 1.00
R2192:Nbeal1 UTSW 1 60,321,054 (GRCm39) missense probably damaging 1.00
R2203:Nbeal1 UTSW 1 60,323,165 (GRCm39) missense probably benign 0.21
R2267:Nbeal1 UTSW 1 60,370,037 (GRCm39) splice site probably benign
R2268:Nbeal1 UTSW 1 60,370,037 (GRCm39) splice site probably benign
R2351:Nbeal1 UTSW 1 60,276,257 (GRCm39) missense possibly damaging 0.90
R2366:Nbeal1 UTSW 1 60,290,511 (GRCm39) missense probably damaging 0.97
R2393:Nbeal1 UTSW 1 60,290,529 (GRCm39) missense probably damaging 0.98
R3545:Nbeal1 UTSW 1 60,317,939 (GRCm39) missense probably damaging 1.00
R3546:Nbeal1 UTSW 1 60,317,939 (GRCm39) missense probably damaging 1.00
R3547:Nbeal1 UTSW 1 60,317,939 (GRCm39) missense probably damaging 1.00
R3701:Nbeal1 UTSW 1 60,290,572 (GRCm39) splice site probably benign
R3747:Nbeal1 UTSW 1 60,234,182 (GRCm39) missense probably damaging 0.98
R3875:Nbeal1 UTSW 1 60,233,758 (GRCm39) splice site probably benign
R4119:Nbeal1 UTSW 1 60,331,029 (GRCm39) missense probably damaging 0.99
R4256:Nbeal1 UTSW 1 60,370,107 (GRCm39) missense probably benign 0.19
R4371:Nbeal1 UTSW 1 60,329,105 (GRCm39) missense possibly damaging 0.95
R4450:Nbeal1 UTSW 1 60,306,933 (GRCm39) missense probably damaging 0.97
R4558:Nbeal1 UTSW 1 60,320,469 (GRCm39) nonsense probably null
R4618:Nbeal1 UTSW 1 60,267,890 (GRCm39) intron probably benign
R4673:Nbeal1 UTSW 1 60,368,549 (GRCm39) missense probably damaging 1.00
R4719:Nbeal1 UTSW 1 60,274,722 (GRCm39) splice site probably null
R4798:Nbeal1 UTSW 1 60,261,352 (GRCm39) splice site probably null
R4826:Nbeal1 UTSW 1 60,290,501 (GRCm39) missense possibly damaging 0.79
R4841:Nbeal1 UTSW 1 60,292,534 (GRCm39) missense probably damaging 1.00
R4842:Nbeal1 UTSW 1 60,292,534 (GRCm39) missense probably damaging 1.00
R4895:Nbeal1 UTSW 1 60,332,062 (GRCm39) missense probably damaging 1.00
R4929:Nbeal1 UTSW 1 60,277,813 (GRCm39) missense probably damaging 1.00
R5026:Nbeal1 UTSW 1 60,276,338 (GRCm39) missense probably damaging 1.00
R5243:Nbeal1 UTSW 1 60,309,487 (GRCm39) missense probably damaging 0.99
R5300:Nbeal1 UTSW 1 60,274,718 (GRCm39) nonsense probably null
R5345:Nbeal1 UTSW 1 60,367,369 (GRCm39) critical splice donor site probably null
R5502:Nbeal1 UTSW 1 60,350,158 (GRCm39) missense probably damaging 1.00
R5542:Nbeal1 UTSW 1 60,316,353 (GRCm39) missense probably benign 0.00
R5555:Nbeal1 UTSW 1 60,276,311 (GRCm39) missense possibly damaging 0.93
R5580:Nbeal1 UTSW 1 60,281,761 (GRCm39) missense probably benign 0.45
R5765:Nbeal1 UTSW 1 60,331,006 (GRCm39) missense probably damaging 1.00
R5802:Nbeal1 UTSW 1 60,311,380 (GRCm39) missense probably benign 0.01
R5907:Nbeal1 UTSW 1 60,267,950 (GRCm39) intron probably benign
R5918:Nbeal1 UTSW 1 60,307,051 (GRCm39) missense possibly damaging 0.90
R5923:Nbeal1 UTSW 1 60,287,554 (GRCm39) missense probably damaging 1.00
R6066:Nbeal1 UTSW 1 60,287,564 (GRCm39) missense probably benign 0.29
R6091:Nbeal1 UTSW 1 60,220,715 (GRCm39) start gained probably benign
R6113:Nbeal1 UTSW 1 60,261,422 (GRCm39) missense possibly damaging 0.95
R6143:Nbeal1 UTSW 1 60,290,466 (GRCm39) missense possibly damaging 0.81
R6194:Nbeal1 UTSW 1 60,296,643 (GRCm39) missense possibly damaging 0.80
R6197:Nbeal1 UTSW 1 60,261,287 (GRCm39) missense probably damaging 0.99
R6228:Nbeal1 UTSW 1 60,335,083 (GRCm39) missense probably benign 0.00
R6229:Nbeal1 UTSW 1 60,287,524 (GRCm39) missense possibly damaging 0.88
R6309:Nbeal1 UTSW 1 60,277,878 (GRCm39) missense probably benign
R6457:Nbeal1 UTSW 1 60,292,633 (GRCm39) missense probably benign 0.31
R6489:Nbeal1 UTSW 1 60,370,101 (GRCm39) missense possibly damaging 0.89
R6845:Nbeal1 UTSW 1 60,320,469 (GRCm39) nonsense probably null
R7021:Nbeal1 UTSW 1 60,300,745 (GRCm39) critical splice donor site probably null
R7033:Nbeal1 UTSW 1 60,350,106 (GRCm39) missense probably damaging 1.00
R7144:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7145:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7146:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7157:Nbeal1 UTSW 1 60,299,793 (GRCm39) nonsense probably null
R7157:Nbeal1 UTSW 1 60,276,317 (GRCm39) missense probably damaging 1.00
R7209:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7210:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7211:Nbeal1 UTSW 1 60,240,110 (GRCm39) missense probably damaging 1.00
R7212:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7213:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7214:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7283:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7285:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7287:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7296:Nbeal1 UTSW 1 60,349,383 (GRCm39) nonsense probably null
R7312:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7313:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7329:Nbeal1 UTSW 1 60,256,355 (GRCm39) missense probably benign 0.39
R7380:Nbeal1 UTSW 1 60,283,969 (GRCm39) missense probably damaging 1.00
R7414:Nbeal1 UTSW 1 60,233,756 (GRCm39) critical splice donor site probably null
R7477:Nbeal1 UTSW 1 60,300,743 (GRCm39) missense probably benign
R7507:Nbeal1 UTSW 1 60,274,626 (GRCm39) missense probably damaging 1.00
R7642:Nbeal1 UTSW 1 60,316,386 (GRCm39) missense probably benign 0.31
R7678:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7689:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7728:Nbeal1 UTSW 1 60,283,983 (GRCm39) missense probably damaging 1.00
R7757:Nbeal1 UTSW 1 60,296,609 (GRCm39) missense probably damaging 0.97
R7761:Nbeal1 UTSW 1 60,358,500 (GRCm39) missense probably benign 0.00
R7813:Nbeal1 UTSW 1 60,331,048 (GRCm39) missense probably damaging 1.00
R7829:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R7891:Nbeal1 UTSW 1 60,299,591 (GRCm39) missense probably benign
R7902:Nbeal1 UTSW 1 60,331,029 (GRCm39) missense probably damaging 0.99
R8022:Nbeal1 UTSW 1 60,299,431 (GRCm39) nonsense probably null
R8053:Nbeal1 UTSW 1 60,318,954 (GRCm39) missense probably damaging 0.98
R8169:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R8170:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R8178:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R8182:Nbeal1 UTSW 1 60,239,292 (GRCm39) missense probably benign 0.00
R8186:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R8187:Nbeal1 UTSW 1 60,276,310 (GRCm39) missense probably benign 0.11
R8193:Nbeal1 UTSW 1 60,292,640 (GRCm39) nonsense probably null
R8209:Nbeal1 UTSW 1 60,316,336 (GRCm39) missense probably damaging 0.99
R8226:Nbeal1 UTSW 1 60,316,336 (GRCm39) missense probably damaging 0.99
R8549:Nbeal1 UTSW 1 60,274,721 (GRCm39) critical splice donor site probably null
R8560:Nbeal1 UTSW 1 60,274,316 (GRCm39) missense probably benign 0.38
R8753:Nbeal1 UTSW 1 60,307,542 (GRCm39) missense probably damaging 1.00
R8769:Nbeal1 UTSW 1 60,274,370 (GRCm39) missense probably damaging 0.99
R8771:Nbeal1 UTSW 1 60,300,743 (GRCm39) missense probably benign
R8952:Nbeal1 UTSW 1 60,299,459 (GRCm39) missense probably benign 0.01
R9014:Nbeal1 UTSW 1 60,329,118 (GRCm39) missense probably damaging 1.00
R9056:Nbeal1 UTSW 1 60,317,885 (GRCm39) missense probably damaging 1.00
R9091:Nbeal1 UTSW 1 60,307,548 (GRCm39) missense possibly damaging 0.50
R9138:Nbeal1 UTSW 1 60,286,904 (GRCm39) nonsense probably null
R9168:Nbeal1 UTSW 1 60,331,047 (GRCm39) missense probably damaging 1.00
R9200:Nbeal1 UTSW 1 60,320,425 (GRCm39) missense probably damaging 1.00
R9205:Nbeal1 UTSW 1 60,317,839 (GRCm39) missense probably damaging 1.00
R9270:Nbeal1 UTSW 1 60,307,548 (GRCm39) missense possibly damaging 0.50
R9322:Nbeal1 UTSW 1 60,297,818 (GRCm39) missense possibly damaging 0.91
R9405:Nbeal1 UTSW 1 60,349,424 (GRCm39) missense probably damaging 1.00
R9554:Nbeal1 UTSW 1 60,290,287 (GRCm39) nonsense probably null
R9557:Nbeal1 UTSW 1 60,274,509 (GRCm39) missense probably benign
R9560:Nbeal1 UTSW 1 60,368,544 (GRCm39) missense probably damaging 1.00
R9641:Nbeal1 UTSW 1 60,350,247 (GRCm39) missense probably damaging 1.00
R9784:Nbeal1 UTSW 1 60,299,741 (GRCm39) nonsense probably null
X0022:Nbeal1 UTSW 1 60,316,391 (GRCm39) missense probably benign
Posted On 2016-08-02