Incidental Mutation 'R7366:Sptb'
ID 571825
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 045450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R7366 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 76627262-76757321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76650968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 1669 (D1669A)
Ref Sequence ENSEMBL: ENSMUSP00000021458 (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: D1669A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: D1669A

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: D1669A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: D1669A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 99% (94/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 73,203,303 (GRCm39) P244S possibly damaging Het
4930562C15Rik A G 16: 4,653,633 (GRCm39) I61V unknown Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Acbd3 A G 1: 180,562,064 (GRCm39) E181G probably benign Het
Ano3 T C 2: 110,587,412 (GRCm39) Y43C probably damaging Het
Aspa T A 11: 73,210,716 (GRCm39) probably null Het
AU018091 A T 7: 3,206,170 (GRCm39) N620K probably damaging Het
Bicc1 G T 10: 70,779,216 (GRCm39) T724K probably benign Het
Bmper T C 9: 23,395,300 (GRCm39) I677T probably damaging Het
C3 T A 17: 57,528,162 (GRCm39) T686S probably benign Het
Cc2d2a G T 5: 43,887,332 (GRCm39) R1315L probably damaging Het
Ccdc150 G T 1: 54,339,541 (GRCm39) E462* probably null Het
Ccdc88c C A 12: 100,911,209 (GRCm39) R875L possibly damaging Het
Cd177 C T 7: 24,456,147 (GRCm39) G207D probably damaging Het
Cdh23 A T 10: 60,151,471 (GRCm39) Y2471* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cmbl A T 15: 31,590,002 (GRCm39) Y244F probably benign Het
Dcaf10 T C 4: 45,373,919 (GRCm39) V448A probably damaging Het
Ddr2 A G 1: 169,825,533 (GRCm39) W356R probably damaging Het
Depdc1a A G 3: 159,228,849 (GRCm39) I534V probably benign Het
Dhtkd1 T A 2: 5,922,717 (GRCm39) I481L probably benign Het
Dlst A T 12: 85,175,089 (GRCm39) I260L probably benign Het
Dnajc13 T G 9: 104,061,905 (GRCm39) K1350Q probably benign Het
Dpp4 T C 2: 62,184,943 (GRCm39) Y520C probably damaging Het
Dr1 C A 5: 108,423,594 (GRCm39) A127E unknown Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E130308A19Rik T C 4: 59,752,770 (GRCm39) C628R probably damaging Het
Edem3 T A 1: 151,688,365 (GRCm39) probably null Het
Efcab15 T C 11: 103,098,944 (GRCm39) probably null Het
Fam20a T A 11: 109,564,168 (GRCm39) Q528H possibly damaging Het
Fanca T C 8: 124,007,952 (GRCm39) E981G probably benign Het
Fbp2 A G 13: 62,985,012 (GRCm39) V303A possibly damaging Het
Flii C T 11: 60,611,945 (GRCm39) V353M possibly damaging Het
Gm10277 T A 11: 77,676,584 (GRCm39) Y129F unknown Het
Gm3159 A T 14: 4,398,525 (GRCm38) H72L probably benign Het
Gm5114 T G 7: 39,058,768 (GRCm39) T284P possibly damaging Het
Gm7168 T C 17: 14,170,147 (GRCm39) S505P probably damaging Het
Gnal T C 18: 67,344,142 (GRCm39) V239A possibly damaging Het
Gtf2i C T 5: 134,294,603 (GRCm39) E370K probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Il3 T A 11: 54,156,709 (GRCm39) R93S probably benign Het
Itsn1 A G 16: 91,705,338 (GRCm39) E1573G unknown Het
Kif26a G A 12: 112,129,976 (GRCm39) probably null Het
Klb T C 5: 65,529,774 (GRCm39) M434T probably damaging Het
Lrp2 T A 2: 69,314,150 (GRCm39) R2194W probably damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mak16 A G 8: 31,656,127 (GRCm39) Y119H possibly damaging Het
Map3k19 T A 1: 127,745,192 (GRCm39) M1421L probably damaging Het
Mbd5 A G 2: 49,164,580 (GRCm39) I1186V probably benign Het
Mboat1 T A 13: 30,386,345 (GRCm39) C120S possibly damaging Het
Mctp2 T A 7: 71,908,962 (GRCm39) D117V probably benign Het
Mocos C A 18: 24,809,673 (GRCm39) N425K probably damaging Het
Nav2 A G 7: 49,203,951 (GRCm39) probably null Het
Ngfr A T 11: 95,465,255 (GRCm39) W198R possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Obsl1 T C 1: 75,479,608 (GRCm39) S596G probably damaging Het
Or2ag1 G T 7: 106,472,603 (GRCm39) P283Q probably damaging Het
Or51g1 A T 7: 102,633,723 (GRCm39) I216K probably damaging Het
Or52e3 T G 7: 102,869,740 (GRCm39) Y272D probably benign Het
Or5v1b T A 17: 37,841,708 (GRCm39) V280D probably damaging Het
Or6b3 A G 1: 92,439,400 (GRCm39) S117P possibly damaging Het
Pithd1 T C 4: 135,714,361 (GRCm39) Y29C probably benign Het
Plcb3 T C 19: 6,939,389 (GRCm39) T530A probably benign Het
Prss40 A T 1: 34,598,952 (GRCm39) Y70* probably null Het
Ralgps1 T C 2: 33,214,700 (GRCm39) M61V possibly damaging Het
Rbp4 C T 19: 38,113,410 (GRCm39) R36H possibly damaging Het
Rnf125 A G 18: 21,107,490 (GRCm39) N7S not run Het
Rpe65 G A 3: 159,330,366 (GRCm39) S511N probably benign Het
Rspo4 A T 2: 151,709,793 (GRCm39) Y66F probably damaging Het
Ruvbl2 A G 7: 45,071,573 (GRCm39) S437P probably benign Het
Sele C A 1: 163,876,288 (GRCm39) R12S probably benign Het
Sgo2b T A 8: 64,391,451 (GRCm39) K139* probably null Het
Shroom3 C A 5: 93,112,465 (GRCm39) S1942* probably null Het
Slc12a9 G A 5: 137,326,885 (GRCm39) R191* probably null Het
Spag9 G T 11: 93,999,347 (GRCm39) V1088L possibly damaging Het
Sptlc2 A G 12: 87,360,823 (GRCm39) probably null Het
Sult2a8 A T 7: 14,150,254 (GRCm39) probably null Het
Synpo2 A G 3: 122,907,690 (GRCm39) V542A probably damaging Het
Tecpr2 T C 12: 110,881,914 (GRCm39) probably null Het
Tektip1 T C 10: 81,200,025 (GRCm39) D165G possibly damaging Het
Tenm2 T C 11: 35,960,241 (GRCm39) T1029A probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tnfaip8l1 C A 17: 56,478,897 (GRCm39) N62K probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Trp53tg5 A G 2: 164,313,027 (GRCm39) I216T possibly damaging Het
Tssk5 A G 15: 76,258,713 (GRCm39) S58P probably benign Het
Ttc9b T C 7: 27,354,384 (GRCm39) Y157H probably damaging Het
Tuba8 A G 6: 121,199,871 (GRCm39) Y185C probably damaging Het
Ubr2 C T 17: 47,266,771 (GRCm39) A1127T probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Yipf3 T A 17: 46,559,855 (GRCm39) L57Q possibly damaging Het
Zbtb32 A C 7: 30,289,606 (GRCm39) C19G probably damaging Het
Zfp735 A T 11: 73,602,979 (GRCm39) H641L possibly damaging Het
Zfyve28 A T 5: 34,389,571 (GRCm39) Y210N probably damaging Het
Zpr1 T A 9: 46,184,671 (GRCm39) probably null 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
R0047:Sptb UTSW 12 76,669,724 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGGGTACTCACAGTCACGTG -3'
(R):5'- CTGTAATTTCTGGGGCCAGC -3'

Sequencing Primer
(F):5'- GTCACGTGGTCAAAATCCTG -3'
(R):5'- GTAATTTCTGGGGCCAGCTCTTC -3'
Posted On 2019-09-13