Incidental Mutation 'R9166:Sptb'
ID 696085
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R9166 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 76627262-76757321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76673776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 337 (V337A)
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: V337A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: V337A

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: V337A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: V337A

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 0.5593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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
4932438H23Rik A G 16: 90,853,046 (GRCm39) L30P possibly damaging Het
Adgrb1 A C 15: 74,420,475 (GRCm39) M875L probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ankrd13c T A 3: 157,705,357 (GRCm39) S427T probably benign Het
Aopep G A 13: 63,318,862 (GRCm39) probably null Het
Ap3b1 A C 13: 94,608,236 (GRCm39) Y569S probably damaging Het
Bco2 A G 9: 50,447,667 (GRCm39) V352A probably benign Het
Bltp1 T A 3: 37,041,516 (GRCm39) N2630K probably damaging Het
Cacnb1 T A 11: 97,910,534 (GRCm39) D48V probably damaging Het
Cdr2l C A 11: 115,283,537 (GRCm39) Q132K probably benign Het
Chrd T C 16: 20,554,572 (GRCm39) M377T probably benign Het
Coq7 T C 7: 118,109,365 (GRCm39) T228A unknown Het
D7Ertd443e G A 7: 133,900,048 (GRCm39) T438I probably benign Het
Dlc1 C T 8: 37,066,589 (GRCm39) E15K probably damaging Het
Dlgap5 C T 14: 47,651,206 (GRCm39) R109Q probably damaging Het
Dysf T C 6: 84,126,959 (GRCm39) V1359A probably damaging Het
E2f7 C T 10: 110,618,085 (GRCm39) P717S probably benign Het
Elmo2 T C 2: 165,132,438 (GRCm39) D669G probably benign Het
Epha6 A G 16: 60,425,238 (GRCm39) V125A probably benign Het
Erg G T 16: 95,190,807 (GRCm39) H119N probably benign Het
Fam13b T C 18: 34,595,252 (GRCm39) S371G probably benign Het
Fancg G C 4: 43,006,800 (GRCm39) Q297E probably benign Het
Gas2 A G 7: 51,586,323 (GRCm39) E145G possibly damaging Het
Gas7 T C 11: 67,561,446 (GRCm39) V218A probably benign Het
Gm9970 A G 5: 31,398,345 (GRCm39) S78P unknown Het
Hectd4 A C 5: 121,446,690 (GRCm39) D259A probably damaging Het
Hoxb2 T G 11: 96,244,339 (GRCm39) S317A probably damaging Het
Hspg2 T C 4: 137,270,185 (GRCm39) L2381P probably damaging Het
Irf4 A T 13: 30,941,484 (GRCm39) H280L probably benign Het
Irf7 A G 7: 140,844,666 (GRCm39) V142A probably benign Het
Kat7 T C 11: 95,190,928 (GRCm39) I94V probably benign Het
Kera T A 10: 97,448,830 (GRCm39) I350K possibly damaging Het
Klf15 T C 6: 90,443,952 (GRCm39) S176P probably benign Het
Lrrc59 C A 11: 94,522,959 (GRCm39) T53N probably benign Het
Morn5 T C 2: 35,945,024 (GRCm39) Y83H probably damaging Het
Myef2l A G 3: 10,153,849 (GRCm39) N206S probably benign Het
Neil3 A C 8: 54,058,722 (GRCm39) M273R probably damaging Het
Ngfr A T 11: 95,465,047 (GRCm39) V267E possibly damaging Het
Nudc T C 4: 133,273,165 (GRCm39) D11G probably damaging Het
Or2t1 A T 14: 14,329,059 (GRCm38) D316V probably benign Het
Or4a81 T A 2: 89,619,291 (GRCm39) N135I probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3cg C T 12: 32,242,213 (GRCm39) G966R probably damaging Het
Ppfibp1 A G 6: 146,920,980 (GRCm39) T573A probably damaging Het
Ppp2r5a C A 1: 191,128,504 (GRCm39) R37L probably benign Het
Prpf8 T C 11: 75,387,340 (GRCm39) F1207S possibly damaging Het
Prtg A T 9: 72,764,107 (GRCm39) I527F probably damaging Het
Pspc1 A G 14: 56,999,305 (GRCm39) M317T probably damaging Het
Ptpru C T 4: 131,525,180 (GRCm39) V768I probably benign Het
Ptx4 A G 17: 25,343,546 (GRCm39) probably null Het
Ralgapb T C 2: 158,274,842 (GRCm39) probably null Het
Rhobtb2 C A 14: 70,034,703 (GRCm39) G174V probably damaging Het
Sdad1 G T 5: 92,446,080 (GRCm39) S285* probably null Het
Sema4f G T 6: 82,890,626 (GRCm39) S727* probably null Het
Sik1 A G 17: 32,069,727 (GRCm39) F241L probably damaging Het
Slc8b1 T C 5: 120,662,096 (GRCm39) S279P probably benign Het
Slco4a1 A G 2: 180,106,034 (GRCm39) E72G probably benign Het
Smok3c A T 5: 138,063,781 (GRCm39) T423S possibly damaging Het
Sorcs3 T C 19: 48,784,811 (GRCm39) V1078A probably benign Het
Tet2 C A 3: 133,173,933 (GRCm39) G1443V probably damaging Het
Ticam2 A T 18: 46,694,048 (GRCm39) L13H probably damaging Het
Tnrc6a A G 7: 122,786,624 (GRCm39) E1562G probably damaging Het
Trim24 A T 6: 37,934,074 (GRCm39) K742N probably damaging Het
Trim56 A T 5: 137,142,751 (GRCm39) V255E probably damaging Het
Trmt12 A G 15: 58,744,608 (GRCm39) E2G probably benign Het
Tubd1 A T 11: 86,452,091 (GRCm39) T353S probably benign Het
Vim T C 2: 13,579,556 (GRCm39) V105A probably benign Het
Vmn2r58 A T 7: 41,513,431 (GRCm39) V404E probably damaging Het
Wdr62 G A 7: 29,941,874 (GRCm39) P1115L probably damaging Het
Wfdc12 G T 2: 164,032,193 (GRCm39) C32* probably null Het
Zfp750 T A 11: 121,403,980 (GRCm39) R298S 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
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
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
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'- CATGAAGCAGGTGACAGATGTC -3'
(R):5'- GTGGCTCACACTGATGGTAG -3'

Sequencing Primer
(F):5'- GATGTCCTGCTATAGAACTCAAGGC -3'
(R):5'- CACACTGATGGTAGGTCTCATCG -3'
Posted On 2022-02-07