Incidental Mutation 'R0047:Sptb'
ID 15914
Institutional Source Beutler Lab
Gene Symbol Sptb
Ensembl Gene ENSMUSG00000021061
Gene Name spectrin beta, erythrocytic
Synonyms LOC383567, brain erythroid spectrin (235E), spectrin R, D330027P03Rik, Spnb-1, Spnb1
MMRRC Submission 038341-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R0047 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 76627262-76757321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76669724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 535 (Q535K)
Ref Sequence ENSEMBL: ENSMUSP00000129782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000166101]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021458
AA Change: Q535K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: Q535K

DomainStartEndE-ValueType
CH 56 156 2.73e-26 SMART
CH 175 273 4.57e-28 SMART
SPEC 305 411 2.71e0 SMART
SPEC 425 525 4.65e-23 SMART
SPEC 531 634 4.51e-21 SMART
SPEC 640 740 3.02e-31 SMART
SPEC 746 845 1.47e-20 SMART
SPEC 851 951 1.04e-20 SMART
SPEC 957 1058 7.22e-20 SMART
SPEC 1064 1165 2.06e-24 SMART
SPEC 1171 1271 3.84e-15 SMART
SPEC 1277 1376 2.22e-20 SMART
SPEC 1382 1475 5.04e-10 SMART
SPEC 1481 1581 3.58e-24 SMART
SPEC 1587 1687 4.11e-24 SMART
SPEC 1693 1794 2.91e-24 SMART
SPEC 1800 1900 7.8e-16 SMART
SPEC 1906 2006 3.16e-25 SMART
SPEC 2012 2193 4.32e-9 SMART
PH 2180 2291 8.98e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166101
AA Change: Q535K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: Q535K

DomainStartEndE-ValueType
CH 56 156 2.73e-26 SMART
CH 175 273 4.57e-28 SMART
SPEC 305 411 2.71e0 SMART
SPEC 425 525 4.65e-23 SMART
SPEC 531 634 4.51e-21 SMART
SPEC 640 740 3.02e-31 SMART
SPEC 746 845 1.47e-20 SMART
SPEC 851 951 1.04e-20 SMART
SPEC 957 1058 7.22e-20 SMART
SPEC 1064 1165 2.06e-24 SMART
SPEC 1171 1271 3.84e-15 SMART
SPEC 1277 1376 2.22e-20 SMART
SPEC 1382 1475 5.87e-11 SMART
SPEC 1481 1581 3.58e-24 SMART
SPEC 1587 1687 4.11e-24 SMART
SPEC 1693 1794 2.91e-24 SMART
SPEC 1800 1900 7.8e-16 SMART
SPEC 1906 2006 3.16e-25 SMART
SPEC 2012 2117 1.16e-9 SMART
Meta Mutation Damage Score 0.1985 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.8%
  • 20x: 65.9%
Validation Efficiency 95% (110/116)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,025 (GRCm39) T405A probably damaging Het
Acer1 A T 17: 57,262,624 (GRCm39) D175E possibly damaging Het
Adamts9 G A 6: 92,882,287 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,857 (GRCm39) S427P probably benign Het
Arid4a T G 12: 71,122,193 (GRCm39) L858W probably damaging Het
Bbox1 A G 2: 110,098,647 (GRCm39) F310S probably damaging Het
Bltp1 T A 3: 36,962,341 (GRCm39) L481M possibly damaging Het
Bmper T A 9: 23,317,982 (GRCm39) C534S probably damaging Het
Cacna1d T G 14: 30,068,747 (GRCm39) probably benign Het
Capn12 G A 7: 28,589,812 (GRCm39) probably null Het
Chchd1 T C 14: 20,754,231 (GRCm39) S48P possibly damaging Het
Cnot7 A G 8: 40,948,962 (GRCm39) probably benign Het
Cux1 T C 5: 136,392,107 (GRCm39) probably benign Het
Cyp2b19 T A 7: 26,466,251 (GRCm39) D351E probably benign Het
Dctn1 G T 6: 83,159,614 (GRCm39) G31* probably null Het
Duox1 T A 2: 122,177,122 (GRCm39) probably benign Het
Egflam T G 15: 7,282,911 (GRCm39) E382A possibly damaging Het
Ext1 T C 15: 53,208,542 (GRCm39) N73S probably benign Het
Glg1 A T 8: 111,892,214 (GRCm39) M866K probably damaging Het
Gm3333 A G 13: 62,422,285 (GRCm39) noncoding transcript Het
Golm1 T A 13: 59,792,914 (GRCm39) H197L probably benign Het
Gtse1 A G 15: 85,746,579 (GRCm39) K132E probably damaging Het
Gxylt2 A T 6: 100,710,339 (GRCm39) probably benign Het
Hrc T A 7: 44,986,113 (GRCm39) S421R probably benign Het
Ighg2c T A 12: 113,251,788 (GRCm39) probably benign Het
Ihh A G 1: 74,985,750 (GRCm39) I245T probably benign Het
Ilf3 T A 9: 21,300,010 (GRCm39) M65K possibly damaging Het
Kif9 A G 9: 110,314,106 (GRCm39) I33V probably benign Het
Lama1 A T 17: 68,102,181 (GRCm39) probably benign Het
Lamb1 T C 12: 31,328,600 (GRCm39) I188T possibly damaging Het
Lpp T A 16: 24,480,550 (GRCm39) probably benign Het
Mark2 A C 19: 7,260,942 (GRCm39) probably benign Het
Mmp3 T C 9: 7,451,910 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,928,727 (GRCm39) probably benign Het
Mtr A T 13: 12,237,112 (GRCm39) S569T probably damaging Het
Myh13 T A 11: 67,258,063 (GRCm39) S1752T probably benign Het
Myo5a T A 9: 75,063,489 (GRCm39) L565H probably damaging Het
Numa1 A G 7: 101,658,660 (GRCm39) K296E probably damaging Het
Obi1 T A 14: 104,740,780 (GRCm39) probably null Het
Or51ab3 A T 7: 103,201,529 (GRCm39) Y179F probably damaging Het
Or5ac19 C T 16: 59,089,574 (GRCm39) G152D probably damaging Het
Or5b120 A G 19: 13,479,953 (GRCm39) E82G probably benign Het
Pla2g2c T C 4: 138,470,901 (GRCm39) probably benign Het
Pnpla7 A T 2: 24,901,618 (GRCm39) E548V probably damaging Het
Ppm1m C A 9: 106,073,895 (GRCm39) E273* probably null Het
Ppp2r1b C T 9: 50,772,873 (GRCm39) R117* probably null Het
Psg-ps1 A G 7: 17,411,806 (GRCm39) noncoding transcript Het
Rabgap1l G A 1: 160,059,359 (GRCm39) probably benign Het
Rapgef6 T A 11: 54,437,204 (GRCm39) M49K possibly damaging Het
Rtel1 T G 2: 180,965,198 (GRCm39) I146M probably damaging Het
Sdr9c7 A T 10: 127,739,541 (GRCm39) M219L probably benign Het
Serpinb1a A T 13: 33,034,259 (GRCm39) L44Q probably damaging Het
Slc13a4 A G 6: 35,264,297 (GRCm39) I190T possibly damaging Het
Slc46a2 A G 4: 59,914,392 (GRCm39) L177P probably damaging Het
Slc47a2 C T 11: 61,227,068 (GRCm39) V167M possibly damaging Het
Snrnp200 C T 2: 127,076,874 (GRCm39) probably benign Het
Snx13 C A 12: 35,151,123 (GRCm39) probably benign Het
Snx25 C T 8: 46,494,402 (GRCm39) A828T probably damaging Het
Spic A G 10: 88,511,803 (GRCm39) L151P probably damaging Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Stk32a T C 18: 43,446,443 (GRCm39) probably benign Het
Tcaf2 A G 6: 42,606,547 (GRCm39) I469T probably benign Het
Tln2 A G 9: 67,147,954 (GRCm39) probably benign Het
Top2a T A 11: 98,888,682 (GRCm39) I1260L probably benign Het
Treml1 C A 17: 48,672,008 (GRCm39) S91* probably null Het
Trmt11 T C 10: 30,411,239 (GRCm39) N418S probably benign Het
Ttf1 A G 2: 28,974,667 (GRCm39) Y801C probably damaging Het
Usp34 C T 11: 23,414,403 (GRCm39) A2782V probably benign Het
Vps4a T C 8: 107,763,333 (GRCm39) L29P probably damaging Het
Wdfy3 A G 5: 102,091,899 (GRCm39) I480T probably damaging Het
Ywhag A T 5: 135,940,153 (GRCm39) V147E probably damaging Het
Other mutations in Sptb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Sptb APN 12 76,668,105 (GRCm39) missense probably benign 0.00
IGL00160:Sptb APN 12 76,669,943 (GRCm39) missense probably damaging 1.00
IGL00229:Sptb APN 12 76,667,527 (GRCm39) missense probably benign 0.20
IGL00820:Sptb APN 12 76,679,251 (GRCm39) missense probably damaging 1.00
IGL01309:Sptb APN 12 76,634,237 (GRCm39) missense probably benign 0.16
IGL01408:Sptb APN 12 76,659,921 (GRCm39) missense possibly damaging 0.93
IGL01450:Sptb APN 12 76,671,014 (GRCm39) missense possibly damaging 0.89
IGL01455:Sptb APN 12 76,659,686 (GRCm39) missense probably damaging 1.00
IGL01457:Sptb APN 12 76,659,329 (GRCm39) splice site probably benign
IGL01680:Sptb APN 12 76,677,456 (GRCm39) missense probably damaging 1.00
IGL02070:Sptb APN 12 76,652,313 (GRCm39) missense possibly damaging 0.82
IGL02346:Sptb APN 12 76,667,788 (GRCm39) missense probably damaging 1.00
IGL02452:Sptb APN 12 76,655,810 (GRCm39) critical splice donor site probably null
IGL02515:Sptb APN 12 76,653,261 (GRCm39) missense possibly damaging 0.51
IGL02545:Sptb APN 12 76,654,754 (GRCm39) critical splice donor site probably null
IGL02644:Sptb APN 12 76,652,391 (GRCm39) missense probably damaging 1.00
IGL02878:Sptb APN 12 76,667,527 (GRCm39) missense probably benign 0.20
IGL03007:Sptb APN 12 76,668,115 (GRCm39) missense probably damaging 1.00
IGL03220:Sptb APN 12 76,659,684 (GRCm39) missense probably benign 0.06
IGL03343:Sptb APN 12 76,630,330 (GRCm39) unclassified probably benign
IGL03098:Sptb UTSW 12 76,668,273 (GRCm39) missense probably damaging 1.00
PIT4472001:Sptb UTSW 12 76,667,460 (GRCm39) missense probably damaging 1.00
R0365:Sptb UTSW 12 76,647,157 (GRCm39) missense probably benign 0.12
R0373:Sptb UTSW 12 76,668,145 (GRCm39) missense probably benign 0.03
R0704:Sptb UTSW 12 76,630,368 (GRCm39) missense probably damaging 0.99
R1005:Sptb UTSW 12 76,648,633 (GRCm39) critical splice donor site probably null
R1109:Sptb UTSW 12 76,650,377 (GRCm39) missense probably damaging 1.00
R1264:Sptb UTSW 12 76,659,381 (GRCm39) missense probably damaging 1.00
R1358:Sptb UTSW 12 76,668,100 (GRCm39) missense probably damaging 1.00
R1358:Sptb UTSW 12 76,668,095 (GRCm39) frame shift probably null
R1459:Sptb UTSW 12 76,658,657 (GRCm39) missense probably benign 0.01
R1518:Sptb UTSW 12 76,650,798 (GRCm39) missense possibly damaging 0.95
R1628:Sptb UTSW 12 76,630,622 (GRCm39) missense probably damaging 1.00
R1668:Sptb UTSW 12 76,667,943 (GRCm39) missense probably benign
R1677:Sptb UTSW 12 76,676,423 (GRCm39) missense probably damaging 1.00
R1687:Sptb UTSW 12 76,650,473 (GRCm39) missense possibly damaging 0.95
R1695:Sptb UTSW 12 76,667,641 (GRCm39) missense probably benign 0.10
R1708:Sptb UTSW 12 76,659,348 (GRCm39) missense probably damaging 1.00
R1761:Sptb UTSW 12 76,659,382 (GRCm39) missense probably damaging 0.96
R1925:Sptb UTSW 12 76,669,027 (GRCm39) missense probably damaging 1.00
R2011:Sptb UTSW 12 76,679,246 (GRCm39) missense possibly damaging 0.95
R2373:Sptb UTSW 12 76,667,935 (GRCm39) missense probably damaging 1.00
R2517:Sptb UTSW 12 76,696,643 (GRCm39) missense possibly damaging 0.55
R2918:Sptb UTSW 12 76,645,532 (GRCm39) missense probably damaging 0.97
R2961:Sptb UTSW 12 76,650,356 (GRCm39) missense probably benign 0.19
R3409:Sptb UTSW 12 76,657,589 (GRCm39) missense possibly damaging 0.78
R3410:Sptb UTSW 12 76,657,589 (GRCm39) missense possibly damaging 0.78
R3411:Sptb UTSW 12 76,657,589 (GRCm39) missense possibly damaging 0.78
R3744:Sptb UTSW 12 76,647,174 (GRCm39) missense probably benign
R4112:Sptb UTSW 12 76,644,553 (GRCm39) missense probably damaging 0.99
R4177:Sptb UTSW 12 76,659,953 (GRCm39) missense probably benign 0.25
R4194:Sptb UTSW 12 76,659,784 (GRCm39) missense probably benign 0.44
R4301:Sptb UTSW 12 76,659,471 (GRCm39) missense probably damaging 1.00
R4555:Sptb UTSW 12 76,659,625 (GRCm39) missense probably benign 0.03
R4619:Sptb UTSW 12 76,630,581 (GRCm39) nonsense probably null
R4620:Sptb UTSW 12 76,630,581 (GRCm39) nonsense probably null
R4625:Sptb UTSW 12 76,634,100 (GRCm39) splice site probably null
R4728:Sptb UTSW 12 76,630,153 (GRCm39) missense probably benign 0.00
R4751:Sptb UTSW 12 76,673,884 (GRCm39) missense probably benign 0.07
R4810:Sptb UTSW 12 76,669,971 (GRCm39) nonsense probably null
R4888:Sptb UTSW 12 76,655,811 (GRCm39) missense probably benign 0.00
R4894:Sptb UTSW 12 76,671,768 (GRCm39) critical splice donor site probably null
R5114:Sptb UTSW 12 76,656,052 (GRCm39) missense probably damaging 1.00
R5191:Sptb UTSW 12 76,659,608 (GRCm39) missense probably benign 0.12
R5479:Sptb UTSW 12 76,646,625 (GRCm39) missense probably benign 0.04
R5646:Sptb UTSW 12 76,634,215 (GRCm39) missense probably benign
R5725:Sptb UTSW 12 76,669,888 (GRCm39) missense probably benign 0.25
R5727:Sptb UTSW 12 76,669,888 (GRCm39) missense probably benign 0.25
R5797:Sptb UTSW 12 76,650,473 (GRCm39) missense possibly damaging 0.95
R5874:Sptb UTSW 12 76,645,501 (GRCm39) missense possibly damaging 0.91
R5952:Sptb UTSW 12 76,679,158 (GRCm39) missense probably benign 0.02
R5956:Sptb UTSW 12 76,650,942 (GRCm39) missense probably benign
R6298:Sptb UTSW 12 76,667,428 (GRCm39) critical splice donor site probably null
R6470:Sptb UTSW 12 76,659,603 (GRCm39) missense probably damaging 1.00
R6477:Sptb UTSW 12 76,653,166 (GRCm39) missense probably damaging 1.00
R6736:Sptb UTSW 12 76,659,954 (GRCm39) missense possibly damaging 0.49
R6854:Sptb UTSW 12 76,650,254 (GRCm39) missense probably damaging 1.00
R6969:Sptb UTSW 12 76,654,781 (GRCm39) missense probably damaging 1.00
R6987:Sptb UTSW 12 76,660,021 (GRCm39) missense probably benign 0.00
R7023:Sptb UTSW 12 76,671,862 (GRCm39) missense probably damaging 1.00
R7366:Sptb UTSW 12 76,650,968 (GRCm39) missense probably damaging 1.00
R7379:Sptb UTSW 12 76,657,651 (GRCm39) missense probably damaging 1.00
R7389:Sptb UTSW 12 76,671,003 (GRCm39) missense probably damaging 0.98
R7392:Sptb UTSW 12 76,671,003 (GRCm39) missense probably damaging 0.98
R7477:Sptb UTSW 12 76,675,339 (GRCm39) missense probably damaging 1.00
R7653:Sptb UTSW 12 76,675,271 (GRCm39) missense probably benign 0.06
R7684:Sptb UTSW 12 76,658,969 (GRCm39) missense probably benign 0.06
R7733:Sptb UTSW 12 76,644,695 (GRCm39) splice site probably null
R7846:Sptb UTSW 12 76,655,300 (GRCm39) nonsense probably null
R8048:Sptb UTSW 12 76,675,333 (GRCm39) missense probably benign 0.02
R8261:Sptb UTSW 12 76,668,036 (GRCm39) missense probably benign 0.06
R8324:Sptb UTSW 12 76,665,936 (GRCm39) missense possibly damaging 0.73
R8512:Sptb UTSW 12 76,648,826 (GRCm39) missense possibly damaging 0.51
R8515:Sptb UTSW 12 76,658,815 (GRCm39) missense probably benign 0.10
R8558:Sptb UTSW 12 76,659,561 (GRCm39) missense probably benign 0.09
R8872:Sptb UTSW 12 76,658,813 (GRCm39) missense probably benign 0.37
R8907:Sptb UTSW 12 76,634,186 (GRCm39) missense probably benign 0.16
R9047:Sptb UTSW 12 76,679,308 (GRCm39) splice site probably benign
R9079:Sptb UTSW 12 76,677,454 (GRCm39) missense probably damaging 1.00
R9166:Sptb UTSW 12 76,673,776 (GRCm39) missense probably damaging 0.96
R9381:Sptb UTSW 12 76,634,292 (GRCm39) missense probably benign
R9601:Sptb UTSW 12 76,667,763 (GRCm39) missense probably damaging 1.00
R9680:Sptb UTSW 12 76,677,489 (GRCm39) missense probably damaging 1.00
R9771:Sptb UTSW 12 76,650,353 (GRCm39) missense probably damaging 1.00
X0057:Sptb UTSW 12 76,677,513 (GRCm39) missense probably benign
Z1176:Sptb UTSW 12 76,667,507 (GRCm39) nonsense probably null
Z1177:Sptb UTSW 12 76,653,219 (GRCm39) missense probably benign 0.22
Z1177:Sptb UTSW 12 76,630,358 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-08