Incidental Mutation 'R1405:Sptbn5'
ID 188677
Institutional Source Beutler Lab
Gene Symbol Sptbn5
Ensembl Gene ENSMUSG00000074899
Gene Name spectrin beta, non-erythrocytic 5
Synonyms Spnb5, EG640524
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R1405 (G1)
Quality Score 210
Status Not validated
Chromosome 2
Chromosomal Location 119871974-119916159 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 119881097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156159
SMART Domains Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899

DomainStartEndE-ValueType
SPEC 60 160 2.54e-6 SMART
SPEC 166 266 1.32e-13 SMART
SPEC 272 372 4.41e-15 SMART
SPEC 378 477 1.56e-15 SMART
SPEC 483 583 1.11e-11 SMART
SPEC 589 689 8.47e-26 SMART
SPEC 695 795 5.56e-12 SMART
SPEC 801 902 7.01e-9 SMART
SPEC 908 1032 4.44e-1 SMART
SPEC 1038 1138 3.73e-13 SMART
Pfam:Spectrin 1141 1206 2.2e-6 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
AC163020.1 A G 7: 46,959,305 (GRCm39) S229P possibly damaging Het
Arap1 G A 7: 101,047,643 (GRCm39) probably null Het
Asb8 G A 15: 98,039,248 (GRCm39) H51Y possibly damaging Het
Capn10 T G 1: 92,872,744 (GRCm39) V490G probably benign Het
Ccdc138 T A 10: 58,380,939 (GRCm39) probably benign Het
Ccdc146 G A 5: 21,604,730 (GRCm39) S36L probably benign Het
Celsr1 C T 15: 85,789,635 (GRCm39) probably null Het
Clvs2 C A 10: 33,389,256 (GRCm39) *328L probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
D6Wsu163e G A 6: 126,951,446 (GRCm39) probably benign Het
Dstn A G 2: 143,780,356 (GRCm39) K19E probably damaging Het
Ehmt2 T A 17: 35,125,553 (GRCm39) H134Q probably benign Het
Faah G A 4: 115,858,345 (GRCm39) P411S probably damaging Het
Fn1 A G 1: 71,681,237 (GRCm39) F364L probably damaging Het
Gm5828 T C 1: 16,839,768 (GRCm39) noncoding transcript Het
Gmnc A T 16: 26,779,196 (GRCm39) N270K possibly damaging Het
Grip2 A T 6: 91,765,133 (GRCm39) probably null Het
Hmg20a A T 9: 56,384,587 (GRCm39) Q119L possibly damaging Het
Ipo7 T C 7: 109,629,048 (GRCm39) I106T probably benign Het
Ipo7 C T 7: 109,638,456 (GRCm39) P241L probably damaging Het
Katnb1 T C 8: 95,824,801 (GRCm39) Y574H probably damaging Het
Larp6 A C 9: 60,644,849 (GRCm39) M330L probably benign Het
Lrrc8e T C 8: 4,281,754 (GRCm39) Y30H probably damaging Het
Nav3 A T 10: 109,606,194 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,868 (GRCm39) V420A probably benign Het
Nrg1 T C 8: 32,407,855 (GRCm39) D126G probably benign Het
Prdm1 T A 10: 44,315,961 (GRCm39) N725I probably damaging Het
Prl3a1 A G 13: 27,459,051 (GRCm39) probably null Het
Psmd2 T C 16: 20,471,034 (GRCm39) L59P possibly damaging Het
Ptgdr2 T C 19: 10,918,395 (GRCm39) V304A probably benign Het
Ptp4a2 T A 4: 129,738,851 (GRCm39) probably benign Het
Rasa3 A G 8: 13,638,027 (GRCm39) V339A possibly damaging Het
Sec24c G A 14: 20,742,593 (GRCm39) probably null Het
Serpinb9e A G 13: 33,444,009 (GRCm39) D343G probably benign Het
Stab1 A C 14: 30,870,958 (GRCm39) V1297G probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tafa5 C T 15: 87,565,678 (GRCm39) probably benign Het
Tmprss2 G A 16: 97,398,005 (GRCm39) T57I probably benign Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Vwa5b2 T A 16: 20,423,066 (GRCm39) D1021E probably benign Het
Wdr46 C A 17: 34,168,057 (GRCm39) P543Q probably damaging Het
Zfp1005 T A 2: 150,109,620 (GRCm39) Y103* probably null Het
Zfp287 T A 11: 62,619,137 (GRCm39) D119V probably damaging Het
Zxdc A G 6: 90,361,225 (GRCm39) S737G possibly damaging Het
Other mutations in Sptbn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Sptbn5 APN 2 119,884,948 (GRCm39) unclassified probably benign
IGL01552:Sptbn5 APN 2 119,884,903 (GRCm39) unclassified probably benign
IGL01800:Sptbn5 APN 2 119,886,908 (GRCm39) unclassified probably benign
IGL02156:Sptbn5 APN 2 119,878,098 (GRCm39) unclassified probably benign
R0020:Sptbn5 UTSW 2 119,896,112 (GRCm39) missense probably damaging 0.96
R0690:Sptbn5 UTSW 2 119,893,156 (GRCm39) splice site probably null
R1121:Sptbn5 UTSW 2 119,899,871 (GRCm39) splice site probably null
R1223:Sptbn5 UTSW 2 119,902,525 (GRCm39) missense probably damaging 0.99
R1852:Sptbn5 UTSW 2 119,902,125 (GRCm39) missense possibly damaging 0.52
R1927:Sptbn5 UTSW 2 119,900,943 (GRCm39) missense probably benign 0.00
R2570:Sptbn5 UTSW 2 119,879,121 (GRCm39) exon noncoding transcript
R3898:Sptbn5 UTSW 2 119,887,691 (GRCm39) exon noncoding transcript
R3976:Sptbn5 UTSW 2 119,878,742 (GRCm39) splice site noncoding transcript
R4092:Sptbn5 UTSW 2 119,897,532 (GRCm39) missense probably damaging 0.99
R4119:Sptbn5 UTSW 2 119,895,010 (GRCm39) missense possibly damaging 0.91
R4120:Sptbn5 UTSW 2 119,895,010 (GRCm39) missense possibly damaging 0.91
R4351:Sptbn5 UTSW 2 119,913,680 (GRCm39) exon noncoding transcript
R4352:Sptbn5 UTSW 2 119,913,680 (GRCm39) exon noncoding transcript
R4364:Sptbn5 UTSW 2 119,899,136 (GRCm39) missense probably damaging 1.00
R4371:Sptbn5 UTSW 2 119,896,475 (GRCm39) missense probably damaging 1.00
R4606:Sptbn5 UTSW 2 119,897,927 (GRCm39) splice site probably null
R4616:Sptbn5 UTSW 2 119,879,238 (GRCm39) exon noncoding transcript
R4687:Sptbn5 UTSW 2 119,907,689 (GRCm39) unclassified probably benign
R4693:Sptbn5 UTSW 2 119,889,897 (GRCm39) unclassified probably benign
R4762:Sptbn5 UTSW 2 119,907,703 (GRCm39) unclassified noncoding transcript
R4798:Sptbn5 UTSW 2 119,889,622 (GRCm39) unclassified probably benign
R4818:Sptbn5 UTSW 2 119,898,449 (GRCm39) missense probably benign 0.05
R4822:Sptbn5 UTSW 2 119,898,449 (GRCm39) missense probably benign 0.05
R4825:Sptbn5 UTSW 2 119,886,374 (GRCm39) unclassified probably benign
R4933:Sptbn5 UTSW 2 119,880,601 (GRCm39) exon noncoding transcript
R4970:Sptbn5 UTSW 2 119,882,258 (GRCm39) exon noncoding transcript
R5141:Sptbn5 UTSW 2 119,892,212 (GRCm39) missense probably benign 0.03
R5209:Sptbn5 UTSW 2 119,902,483 (GRCm39) missense probably benign 0.09
R5225:Sptbn5 UTSW 2 119,915,812 (GRCm39) unclassified probably benign
R5227:Sptbn5 UTSW 2 119,915,812 (GRCm39) unclassified probably benign
R5421:Sptbn5 UTSW 2 119,911,261 (GRCm39) critical splice donor site noncoding transcript
R5495:Sptbn5 UTSW 2 119,876,965 (GRCm39) unclassified probably benign
R5498:Sptbn5 UTSW 2 119,907,119 (GRCm39) unclassified probably benign
R5511:Sptbn5 UTSW 2 119,890,202 (GRCm39) unclassified probably benign
R5596:Sptbn5 UTSW 2 119,876,965 (GRCm39) unclassified probably benign
R5616:Sptbn5 UTSW 2 119,876,965 (GRCm39) unclassified probably benign
R5617:Sptbn5 UTSW 2 119,876,965 (GRCm39) unclassified probably benign
R5619:Sptbn5 UTSW 2 119,880,613 (GRCm39) exon noncoding transcript
R5625:Sptbn5 UTSW 2 119,910,273 (GRCm39) exon noncoding transcript
R5636:Sptbn5 UTSW 2 119,887,885 (GRCm39) unclassified probably benign
R5646:Sptbn5 UTSW 2 119,879,292 (GRCm39) splice site noncoding transcript
R5666:Sptbn5 UTSW 2 119,916,048 (GRCm39) unclassified probably benign
R5670:Sptbn5 UTSW 2 119,916,048 (GRCm39) unclassified probably benign
R5715:Sptbn5 UTSW 2 119,902,985 (GRCm39) missense probably damaging 1.00
R5774:Sptbn5 UTSW 2 119,880,939 (GRCm39) exon noncoding transcript
R5885:Sptbn5 UTSW 2 119,907,144 (GRCm39) unclassified probably benign
R6016:Sptbn5 UTSW 2 119,880,573 (GRCm39) exon noncoding transcript
R6183:Sptbn5 UTSW 2 119,889,898 (GRCm39) unclassified probably benign
R6184:Sptbn5 UTSW 2 119,889,898 (GRCm39) unclassified probably benign
R6219:Sptbn5 UTSW 2 119,907,803 (GRCm39) unclassified probably benign
R6335:Sptbn5 UTSW 2 119,884,900 (GRCm39) unclassified probably benign
R6383:Sptbn5 UTSW 2 119,876,750 (GRCm39) unclassified probably benign
R6450:Sptbn5 UTSW 2 119,877,616 (GRCm39) unclassified probably benign
R6516:Sptbn5 UTSW 2 119,878,431 (GRCm39) unclassified probably benign
R6523:Sptbn5 UTSW 2 119,896,095 (GRCm39) splice site probably null
R6657:Sptbn5 UTSW 2 119,906,881 (GRCm39) unclassified probably benign
R6661:Sptbn5 UTSW 2 119,902,856 (GRCm39) missense possibly damaging 0.62
R8208:Sptbn5 UTSW 2 119,878,326 (GRCm39) nonsense noncoding transcript
R8261:Sptbn5 UTSW 2 119,877,616 (GRCm39) missense noncoding transcript
R8300:Sptbn5 UTSW 2 119,878,058 (GRCm39) missense noncoding transcript
Predicted Primers
Posted On 2014-05-09