Incidental Mutation 'R6657:Sptbn5'
ID 526647
Institutional Source Beutler Lab
Gene Symbol Sptbn5
Ensembl Gene ENSMUSG00000074899
Gene Name spectrin beta, non-erythrocytic 5
Synonyms Spnb5, EG640524
MMRRC Submission 044778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119871974-119916159 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 119906881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110756]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110756
SMART Domains Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899

DomainStartEndE-ValueType
SPEC 13 111 6.45e-8 SMART
Blast:SPEC 117 206 9e-12 BLAST
SPEC 219 323 3.76e-1 SMART
SPEC 325 425 3.48e-13 SMART
SPEC 431 530 1.09e-5 SMART
SPEC 536 631 1.22e-1 SMART
SPEC 637 737 1.78e-10 SMART
SPEC 743 837 4.73e-15 SMART
SPEC 843 944 4.24e-17 SMART
SPEC 950 1051 1.36e-15 SMART
Blast:SPEC 1057 1130 2e-40 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134935
SMART Domains Protein: ENSMUSP00000116766
Gene: ENSMUSG00000074899

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
CH 53 154 1.9e-16 SMART
CH 176 274 3.02e-19 SMART
SPEC 306 412 8.64e-1 SMART
SPEC 426 527 3.85e-6 SMART
SPEC 533 632 1.38e-7 SMART
SPEC 638 738 9.46e-15 SMART
coiled coil region 780 809 N/A INTRINSIC
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
Meta Mutation Damage Score 0.4043 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 106,435,450 (GRCm39) L36R probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Akr1b7 A C 6: 34,393,135 (GRCm39) D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Chst5 C T 8: 112,616,906 (GRCm39) R238Q probably benign Het
Cpxm2 T C 7: 131,650,806 (GRCm39) Y618C probably damaging Het
Csnk1d T C 11: 120,855,820 (GRCm39) E405G possibly damaging Het
Ctsh A T 9: 89,942,555 (GRCm39) M37L probably benign Het
Eml5 T G 12: 98,757,664 (GRCm39) I1843L probably damaging Het
Ep400 C A 5: 110,841,411 (GRCm39) probably benign Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Gpc5 A G 14: 115,607,610 (GRCm39) H404R probably benign Het
Hyal6 A G 6: 24,734,757 (GRCm39) D230G possibly damaging Het
Itga5 T C 15: 103,259,222 (GRCm39) D735G probably damaging Het
Kansl2 T A 15: 98,422,551 (GRCm39) Q339L possibly damaging Het
Lrp4 T A 2: 91,322,398 (GRCm39) M1078K probably benign Het
Mmp24 A T 2: 155,640,099 (GRCm39) Y143F probably damaging Het
Mroh7 A T 4: 106,559,697 (GRCm39) C743* probably null Het
Myh14 T C 7: 44,287,270 (GRCm39) N618D probably damaging Het
Myo19 A T 11: 84,788,022 (GRCm39) M324L probably benign Het
Nectin2 T C 7: 19,472,065 (GRCm39) N108S probably benign Het
Nrg2 A G 18: 36,329,642 (GRCm39) I191T probably damaging Het
Odf4 T C 11: 68,817,638 (GRCm39) N18D probably benign Het
Or5aq6 T A 2: 86,923,403 (GRCm39) I113F probably benign Het
Pcsk2 T G 2: 143,532,286 (GRCm39) L145V probably damaging Het
Pdzrn3 C A 6: 101,127,983 (GRCm39) Q894H probably benign Het
Pfpl G A 19: 12,407,290 (GRCm39) V514I probably benign Het
Plbd1 A T 6: 136,594,250 (GRCm39) M333K probably damaging Het
Plec A T 15: 76,062,356 (GRCm39) M2554K possibly damaging Het
Psmb5 A G 14: 54,851,840 (GRCm39) Y115H possibly damaging Het
Rictor A G 15: 6,788,977 (GRCm39) N198D possibly damaging Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Sec16a C T 2: 26,315,876 (GRCm39) W262* probably null Het
Sfmbt1 A G 14: 30,488,053 (GRCm39) D8G possibly damaging Het
Sqor A G 2: 122,649,514 (GRCm39) D139G possibly damaging Het
Sugt1 A T 14: 79,844,701 (GRCm39) T139S probably benign Het
Tcp11 G A 17: 28,290,646 (GRCm39) P159S probably damaging Het
Tmem262 A G 19: 6,130,542 (GRCm39) T89A possibly damaging Het
Tnfaip6 C A 2: 51,933,795 (GRCm39) T50N probably damaging Het
Ttll9 T C 2: 152,826,182 (GRCm39) Y131H probably damaging Het
Vmn1r173 T A 7: 23,402,320 (GRCm39) M185K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r52 G A 7: 9,893,090 (GRCm39) T683I probably damaging Het
Vps53 A T 11: 76,025,253 (GRCm39) I197N probably damaging Het
Washc4 T A 10: 83,394,482 (GRCm39) F269L possibly damaging Het
Wdfy4 C T 14: 32,769,208 (GRCm39) V2086M possibly damaging Het
Zfp592 A T 7: 80,675,234 (GRCm39) T733S possibly damaging Het
Zfp599 A G 9: 22,161,538 (GRCm39) F209S probably 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
R1405:Sptbn5 UTSW 2 119,881,097 (GRCm39) splice site noncoding transcript
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
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 PCR Primer
(F):5'- CATGTGTGACACTAGGGCTG -3'
(R):5'- AACTTCAGTGTCAGAGAGCC -3'

Sequencing Primer
(F):5'- ACACTAGGGCTGCGGCAG -3'
(R):5'- AGTGTCAGAGAGCCCCTGAC -3'
Posted On 2018-07-23