Incidental Mutation 'R0708:Sptbn1'
ID 63864
Institutional Source Beutler Lab
Gene Symbol Sptbn1
Ensembl Gene ENSMUSG00000020315
Gene Name spectrin beta, non-erythrocytic 1
Synonyms beta fodrin, Spnb-2, 9930031C03Rik, spectrin G, elf1, brain spectrin, elf3, Spnb2, non-erythrocytic
MMRRC Submission 038891-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0708 (G1)
Quality Score 107
Status Not validated
Chromosome 11
Chromosomal Location 30049395-30218175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30064739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1920 (V1920E)
Ref Sequence ENSEMBL: ENSMUSP00000114841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006629] [ENSMUST00000011877] [ENSMUST00000102838] [ENSMUST00000124231]
AlphaFold Q62261
Predicted Effect probably damaging
Transcript: ENSMUST00000006629
AA Change: V1920E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006629
Gene: ENSMUSG00000020315
AA Change: V1920E

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
CH 56 156 3.02e-28 SMART
CH 175 273 8.73e-25 SMART
SPEC 305 411 2.03e0 SMART
SPEC 425 525 6.42e-26 SMART
SPEC 531 635 4.61e-27 SMART
SPEC 641 741 2.36e-33 SMART
SPEC 747 846 1.2e-25 SMART
SPEC 852 952 7.16e-24 SMART
SPEC 958 1059 6.58e-23 SMART
SPEC 1065 1166 1.79e-24 SMART
SPEC 1172 1272 2.2e-24 SMART
SPEC 1278 1377 5.18e-21 SMART
SPEC 1383 1482 1.02e-19 SMART
SPEC 1488 1589 7.2e-29 SMART
SPEC 1595 1695 8.03e-27 SMART
SPEC 1701 1802 9.73e-26 SMART
SPEC 1808 1908 9.82e-22 SMART
SPEC 1914 2014 8.68e-23 SMART
SPEC 2020 2162 3.1e-10 SMART
PH 2197 2308 1.64e-18 SMART
low complexity region 2312 2327 N/A INTRINSIC
low complexity region 2343 2355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000011877
AA Change: V1920E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011877
Gene: ENSMUSG00000020315
AA Change: V1920E

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
CH 56 156 3.02e-28 SMART
CH 175 273 8.73e-25 SMART
SPEC 305 411 2.03e0 SMART
SPEC 425 525 6.42e-26 SMART
SPEC 531 635 4.61e-27 SMART
SPEC 641 741 2.36e-33 SMART
SPEC 747 846 1.2e-25 SMART
SPEC 852 952 7.16e-24 SMART
SPEC 958 1059 6.58e-23 SMART
SPEC 1065 1166 1.79e-24 SMART
SPEC 1172 1272 2.2e-24 SMART
SPEC 1278 1377 5.18e-21 SMART
SPEC 1383 1482 1.02e-19 SMART
SPEC 1488 1589 7.2e-29 SMART
SPEC 1595 1695 8.03e-27 SMART
SPEC 1701 1802 9.73e-26 SMART
SPEC 1808 1908 9.82e-22 SMART
SPEC 1914 2014 8.68e-23 SMART
SPEC 2020 2162 3.1e-10 SMART
PH 2197 2308 1.64e-18 SMART
low complexity region 2312 2327 N/A INTRINSIC
low complexity region 2343 2355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102838
AA Change: V1907E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099902
Gene: ENSMUSG00000020315
AA Change: V1907E

DomainStartEndE-ValueType
CH 43 143 3.02e-28 SMART
CH 162 260 8.73e-25 SMART
SPEC 292 398 2.03e0 SMART
SPEC 412 512 6.42e-26 SMART
SPEC 518 622 4.61e-27 SMART
SPEC 628 728 2.36e-33 SMART
SPEC 734 833 1.2e-25 SMART
SPEC 839 939 7.16e-24 SMART
SPEC 945 1046 6.58e-23 SMART
SPEC 1052 1153 1.79e-24 SMART
SPEC 1159 1259 2.2e-24 SMART
SPEC 1265 1364 5.18e-21 SMART
SPEC 1370 1469 1.02e-19 SMART
SPEC 1475 1576 7.2e-29 SMART
SPEC 1582 1682 8.03e-27 SMART
SPEC 1688 1789 9.73e-26 SMART
SPEC 1795 1895 9.82e-22 SMART
SPEC 1901 2001 8.68e-23 SMART
SPEC 2007 2114 2.66e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124231
AA Change: V1920E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114841
Gene: ENSMUSG00000020315
AA Change: V1920E

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
CH 56 156 3.02e-28 SMART
CH 175 273 8.73e-25 SMART
SPEC 305 411 2.03e0 SMART
SPEC 425 525 6.42e-26 SMART
SPEC 531 635 4.61e-27 SMART
SPEC 641 741 2.36e-33 SMART
SPEC 747 846 1.2e-25 SMART
SPEC 852 952 7.16e-24 SMART
SPEC 958 1059 6.58e-23 SMART
SPEC 1065 1166 1.79e-24 SMART
SPEC 1172 1272 2.2e-24 SMART
SPEC 1278 1377 5.18e-21 SMART
SPEC 1383 1482 1.02e-19 SMART
SPEC 1488 1589 7.2e-29 SMART
SPEC 1595 1695 8.03e-27 SMART
SPEC 1701 1802 9.73e-26 SMART
SPEC 1808 1908 9.82e-22 SMART
SPEC 1914 2014 8.68e-23 SMART
SPEC 2020 2092 6.42e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127209
Meta Mutation Damage Score 0.9081 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt A T 5: 107,506,766 (GRCm39) K450* probably null Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Col9a1 A T 1: 24,276,342 (GRCm39) Q750L possibly damaging Het
Dnah6 A T 6: 73,189,605 (GRCm39) S14R probably benign Het
Enox1 A G 14: 77,830,352 (GRCm39) N319S probably benign Het
Frs2 G A 10: 116,909,997 (GRCm39) T455M probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gmppa T C 1: 75,419,218 (GRCm39) F375S probably damaging Het
Hectd4 G A 5: 121,424,526 (GRCm39) probably null Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Insc T A 7: 114,444,381 (GRCm39) V456E probably damaging Het
Ints14 G A 9: 64,891,266 (GRCm39) V416I probably benign Het
Klk1b11 T C 7: 43,647,152 (GRCm39) F29L possibly damaging Het
Ogfod1 C T 8: 94,765,673 (GRCm39) L79F possibly damaging Het
Or8d2b T A 9: 38,788,571 (GRCm39) V33E probably damaging Het
Orc3 A T 4: 34,597,368 (GRCm39) I224N probably damaging Het
Papss2 T C 19: 32,614,616 (GRCm39) F111L probably damaging Het
Poc1b A G 10: 98,990,992 (GRCm39) D291G probably null Het
Prl8a8 A T 13: 27,695,528 (GRCm39) M72K possibly damaging Het
Ptpn7 C A 1: 135,062,285 (GRCm39) T77K probably damaging Het
Ptpro T C 6: 137,363,251 (GRCm39) S462P probably benign Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Sema4d A G 13: 51,866,755 (GRCm39) V245A probably benign Het
Sgcb A T 5: 73,798,225 (GRCm39) probably null Het
Slc24a1 T A 9: 64,855,172 (GRCm39) K578N unknown Het
Tecr A T 8: 84,299,738 (GRCm39) I101N probably damaging Het
Tectb T C 19: 55,179,984 (GRCm39) F277L probably benign Het
Tgs1 T A 4: 3,586,152 (GRCm39) L343H probably benign Het
Thbs4 C A 13: 92,909,694 (GRCm39) G368W probably damaging Het
Zfp558 T C 9: 18,368,123 (GRCm39) S222G possibly damaging Het
Other mutations in Sptbn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Sptbn1 APN 11 30,060,818 (GRCm39) nonsense probably null
IGL01098:Sptbn1 APN 11 30,109,385 (GRCm39) missense probably damaging 1.00
IGL01843:Sptbn1 APN 11 30,054,623 (GRCm39) missense probably benign 0.02
IGL02070:Sptbn1 APN 11 30,095,979 (GRCm39) missense probably damaging 0.99
IGL02075:Sptbn1 APN 11 30,088,496 (GRCm39) missense probably damaging 1.00
IGL02094:Sptbn1 APN 11 30,050,659 (GRCm39) missense probably benign 0.01
IGL02102:Sptbn1 APN 11 30,087,427 (GRCm39) missense probably damaging 1.00
IGL02189:Sptbn1 APN 11 30,067,871 (GRCm39) missense probably damaging 1.00
IGL02256:Sptbn1 APN 11 30,070,990 (GRCm39) missense probably benign 0.24
IGL02301:Sptbn1 APN 11 30,092,129 (GRCm39) missense probably damaging 1.00
IGL02354:Sptbn1 APN 11 30,060,783 (GRCm39) missense probably damaging 1.00
IGL02361:Sptbn1 APN 11 30,060,783 (GRCm39) missense probably damaging 1.00
IGL02377:Sptbn1 APN 11 30,069,491 (GRCm39) missense possibly damaging 0.92
IGL02504:Sptbn1 APN 11 30,092,293 (GRCm39) missense probably damaging 1.00
IGL02672:Sptbn1 APN 11 30,087,239 (GRCm39) missense probably damaging 1.00
IGL02733:Sptbn1 APN 11 30,147,747 (GRCm39) missense probably benign 0.12
IGL02755:Sptbn1 APN 11 30,092,247 (GRCm39) missense probably damaging 1.00
R0006:Sptbn1 UTSW 11 30,073,855 (GRCm39) missense probably damaging 1.00
R0006:Sptbn1 UTSW 11 30,073,855 (GRCm39) missense probably damaging 1.00
R0096:Sptbn1 UTSW 11 30,064,739 (GRCm39) missense probably damaging 1.00
R0139:Sptbn1 UTSW 11 30,092,289 (GRCm39) missense probably benign 0.00
R0370:Sptbn1 UTSW 11 30,071,545 (GRCm39) missense probably benign
R0389:Sptbn1 UTSW 11 30,089,250 (GRCm39) missense possibly damaging 0.95
R0415:Sptbn1 UTSW 11 30,099,576 (GRCm39) missense probably damaging 1.00
R0552:Sptbn1 UTSW 11 30,095,985 (GRCm39) missense possibly damaging 0.92
R0601:Sptbn1 UTSW 11 30,100,008 (GRCm39) missense probably damaging 1.00
R0609:Sptbn1 UTSW 11 30,088,979 (GRCm39) missense probably damaging 1.00
R0675:Sptbn1 UTSW 11 30,067,903 (GRCm39) missense probably damaging 1.00
R0711:Sptbn1 UTSW 11 30,064,739 (GRCm39) missense probably damaging 1.00
R0729:Sptbn1 UTSW 11 30,060,902 (GRCm39) missense probably damaging 0.96
R0755:Sptbn1 UTSW 11 30,089,016 (GRCm39) missense probably damaging 1.00
R0892:Sptbn1 UTSW 11 30,092,201 (GRCm39) missense probably damaging 1.00
R0927:Sptbn1 UTSW 11 30,071,591 (GRCm39) missense probably damaging 1.00
R1102:Sptbn1 UTSW 11 30,070,785 (GRCm39) missense possibly damaging 0.93
R1460:Sptbn1 UTSW 11 30,088,637 (GRCm39) missense possibly damaging 0.50
R1479:Sptbn1 UTSW 11 30,063,909 (GRCm39) missense probably damaging 1.00
R1496:Sptbn1 UTSW 11 30,071,498 (GRCm39) missense probably damaging 1.00
R1649:Sptbn1 UTSW 11 30,087,301 (GRCm39) missense probably damaging 0.97
R1663:Sptbn1 UTSW 11 30,070,783 (GRCm39) missense possibly damaging 0.53
R1671:Sptbn1 UTSW 11 30,092,245 (GRCm39) missense possibly damaging 0.57
R1680:Sptbn1 UTSW 11 30,109,371 (GRCm39) missense possibly damaging 0.92
R1695:Sptbn1 UTSW 11 30,086,124 (GRCm39) missense probably benign 0.13
R1868:Sptbn1 UTSW 11 30,064,781 (GRCm39) missense possibly damaging 0.70
R1918:Sptbn1 UTSW 11 30,092,414 (GRCm39) missense probably damaging 1.00
R1921:Sptbn1 UTSW 11 30,054,469 (GRCm39) missense probably damaging 0.98
R2026:Sptbn1 UTSW 11 30,054,559 (GRCm39) missense probably benign 0.02
R2038:Sptbn1 UTSW 11 30,109,293 (GRCm39) critical splice donor site probably null
R2047:Sptbn1 UTSW 11 30,088,360 (GRCm39) splice site probably benign
R2312:Sptbn1 UTSW 11 30,104,249 (GRCm39) missense probably damaging 1.00
R3430:Sptbn1 UTSW 11 30,169,686 (GRCm39) missense possibly damaging 0.67
R3624:Sptbn1 UTSW 11 30,090,593 (GRCm39) missense probably damaging 1.00
R3723:Sptbn1 UTSW 11 30,087,335 (GRCm39) missense possibly damaging 0.59
R3862:Sptbn1 UTSW 11 30,092,329 (GRCm39) missense possibly damaging 0.63
R4446:Sptbn1 UTSW 11 30,089,114 (GRCm39) missense possibly damaging 0.70
R4582:Sptbn1 UTSW 11 30,169,597 (GRCm39) missense probably damaging 1.00
R4705:Sptbn1 UTSW 11 30,050,660 (GRCm39) missense probably benign
R4707:Sptbn1 UTSW 11 30,087,197 (GRCm39) missense possibly damaging 0.61
R4718:Sptbn1 UTSW 11 30,104,297 (GRCm39) missense probably damaging 1.00
R4789:Sptbn1 UTSW 11 30,067,759 (GRCm39) missense probably benign
R4824:Sptbn1 UTSW 11 30,068,295 (GRCm39) missense possibly damaging 0.72
R4855:Sptbn1 UTSW 11 30,092,353 (GRCm39) missense probably damaging 1.00
R5009:Sptbn1 UTSW 11 30,074,016 (GRCm39) missense probably benign 0.05
R5071:Sptbn1 UTSW 11 30,063,854 (GRCm39) critical splice donor site probably null
R5153:Sptbn1 UTSW 11 30,071,510 (GRCm39) missense possibly damaging 0.82
R5334:Sptbn1 UTSW 11 30,087,364 (GRCm39) missense possibly damaging 0.92
R5462:Sptbn1 UTSW 11 30,050,520 (GRCm39) missense possibly damaging 0.94
R5523:Sptbn1 UTSW 11 30,087,560 (GRCm39) missense probably damaging 1.00
R5707:Sptbn1 UTSW 11 30,093,174 (GRCm39) missense possibly damaging 0.65
R5724:Sptbn1 UTSW 11 30,094,113 (GRCm39) missense possibly damaging 0.91
R5738:Sptbn1 UTSW 11 30,095,941 (GRCm39) missense probably damaging 1.00
R5864:Sptbn1 UTSW 11 30,095,925 (GRCm39) missense probably damaging 1.00
R5895:Sptbn1 UTSW 11 30,073,978 (GRCm39) missense probably damaging 0.99
R5932:Sptbn1 UTSW 11 30,086,136 (GRCm39) missense probably damaging 1.00
R5966:Sptbn1 UTSW 11 30,074,873 (GRCm39) missense probably damaging 1.00
R5984:Sptbn1 UTSW 11 30,068,464 (GRCm39) missense probably damaging 1.00
R6155:Sptbn1 UTSW 11 30,087,403 (GRCm39) missense probably damaging 0.99
R6163:Sptbn1 UTSW 11 30,109,443 (GRCm39) nonsense probably null
R6226:Sptbn1 UTSW 11 30,086,054 (GRCm39) missense probably damaging 1.00
R6271:Sptbn1 UTSW 11 30,050,660 (GRCm39) missense probably benign 0.00
R6443:Sptbn1 UTSW 11 30,089,429 (GRCm39) missense possibly damaging 0.56
R6591:Sptbn1 UTSW 11 30,063,984 (GRCm39) missense probably damaging 0.99
R6616:Sptbn1 UTSW 11 30,074,030 (GRCm39) missense probably benign 0.08
R6691:Sptbn1 UTSW 11 30,063,984 (GRCm39) missense probably damaging 0.99
R6751:Sptbn1 UTSW 11 30,067,859 (GRCm39) missense probably damaging 1.00
R6823:Sptbn1 UTSW 11 30,064,787 (GRCm39) missense probably damaging 1.00
R6863:Sptbn1 UTSW 11 30,096,777 (GRCm39) missense possibly damaging 0.94
R6885:Sptbn1 UTSW 11 30,088,634 (GRCm39) missense probably benign 0.26
R6892:Sptbn1 UTSW 11 30,092,187 (GRCm39) missense probably benign 0.27
R6998:Sptbn1 UTSW 11 30,050,633 (GRCm39) missense probably damaging 0.97
R7043:Sptbn1 UTSW 11 30,053,323 (GRCm39) missense probably benign 0.02
R7092:Sptbn1 UTSW 11 30,087,119 (GRCm39) missense possibly damaging 0.75
R7272:Sptbn1 UTSW 11 30,064,859 (GRCm39) missense possibly damaging 0.93
R7301:Sptbn1 UTSW 11 30,067,798 (GRCm39) nonsense probably null
R7379:Sptbn1 UTSW 11 30,089,292 (GRCm39) missense possibly damaging 0.72
R7774:Sptbn1 UTSW 11 30,092,142 (GRCm39) missense probably damaging 0.99
R7813:Sptbn1 UTSW 11 30,088,455 (GRCm39) missense probably damaging 1.00
R7837:Sptbn1 UTSW 11 30,088,832 (GRCm39) missense probably damaging 1.00
R7843:Sptbn1 UTSW 11 30,104,320 (GRCm39) missense probably damaging 1.00
R7846:Sptbn1 UTSW 11 30,092,153 (GRCm39) missense probably damaging 0.98
R7877:Sptbn1 UTSW 11 30,079,601 (GRCm39) missense possibly damaging 0.94
R7902:Sptbn1 UTSW 11 30,086,048 (GRCm39) missense probably damaging 1.00
R8060:Sptbn1 UTSW 11 30,051,616 (GRCm39) missense probably damaging 0.99
R8116:Sptbn1 UTSW 11 30,089,117 (GRCm39) missense probably damaging 1.00
R8169:Sptbn1 UTSW 11 30,147,783 (GRCm39) missense possibly damaging 0.62
R8208:Sptbn1 UTSW 11 30,074,972 (GRCm39) missense probably damaging 1.00
R8247:Sptbn1 UTSW 11 30,063,906 (GRCm39) missense possibly damaging 0.84
R8412:Sptbn1 UTSW 11 30,088,457 (GRCm39) missense probably damaging 1.00
R8470:Sptbn1 UTSW 11 30,070,758 (GRCm39) missense possibly damaging 0.78
R8544:Sptbn1 UTSW 11 30,169,750 (GRCm39) start gained probably benign
R8674:Sptbn1 UTSW 11 30,089,352 (GRCm39) missense possibly damaging 0.73
R8846:Sptbn1 UTSW 11 30,075,009 (GRCm39) missense possibly damaging 0.77
R8889:Sptbn1 UTSW 11 30,067,800 (GRCm39) missense probably benign 0.03
R8892:Sptbn1 UTSW 11 30,067,800 (GRCm39) missense probably benign 0.03
R8927:Sptbn1 UTSW 11 30,088,962 (GRCm39) missense probably damaging 1.00
R8928:Sptbn1 UTSW 11 30,088,962 (GRCm39) missense probably damaging 1.00
R8975:Sptbn1 UTSW 11 30,073,869 (GRCm39) missense possibly damaging 0.86
R9115:Sptbn1 UTSW 11 30,087,526 (GRCm39) missense probably damaging 1.00
R9127:Sptbn1 UTSW 11 30,104,356 (GRCm39) missense probably damaging 1.00
R9193:Sptbn1 UTSW 11 30,087,551 (GRCm39) missense possibly damaging 0.77
R9237:Sptbn1 UTSW 11 30,096,803 (GRCm39) missense probably damaging 1.00
Z1176:Sptbn1 UTSW 11 30,147,787 (GRCm39) missense probably benign 0.13
Z1176:Sptbn1 UTSW 11 30,087,439 (GRCm39) missense probably damaging 1.00
Z1177:Sptbn1 UTSW 11 30,070,659 (GRCm39) missense probably benign 0.27
Z1177:Sptbn1 UTSW 11 30,064,734 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCCAAAATGCCTGAGTGGGAAG -3'
(R):5'- TATTAAGAGGCACAGACCCGGCAAC -3'

Sequencing Primer
(F):5'- TCTAGAGGAAATGAGCACCAC -3'
(R):5'- AGTAGTGAAACCTGGCTTTTCTC -3'
Posted On 2013-07-30