Incidental Mutation 'R4616:Sptbn5'
ID 351022
Institutional Source Beutler Lab
Gene Symbol Sptbn5
Ensembl Gene ENSMUSG00000074899
Gene Name spectrin beta, non-erythrocytic 5
Synonyms Spnb5, EG640524
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R4616 (G1)
Quality Score 203
Status Validated
Chromosome 2
Chromosomal Location 119871974-119916159 bp(-) (GRCm39)
Type of Mutation exon
DNA Base Change (assembly) T to A at 119879238 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: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P 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
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
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 PCR Primer
(F):5'- ACCCTAGGACTACGACAGGAAG -3'
(R):5'- TGCAACTGACTGAAGACCCC -3'

Sequencing Primer
(F):5'- TTCTCCAGACTGGACCAGC -3'
(R):5'- TGACTGAAGACCCCTCTCG -3'
Posted On 2015-10-08