Incidental Mutation 'R5646:Sptbn5'
ID 501295
Institutional Source Beutler Lab
Gene Symbol Sptbn5
Ensembl Gene ENSMUSG00000074899
Gene Name spectrin beta, non-erythrocytic 5
Synonyms Spnb5, EG640524
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119871974-119916159 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 119879292 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null 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
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'- ACTCTCCAGAAGGGCAACTG -3'
(R):5'- ACCACAAGCATTCATGGTCC -3'

Sequencing Primer
(F):5'- CAACTGTTTGCTGTAACTGCTCAATG -3'
(R):5'- TCCCTCCAGTACAGTGAGAGTG -3'
Posted On 2017-12-01