Incidental Mutation 'R4301:Sptb'
ID 322425
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 041088-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76627262-76757321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76659471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 1143 (L1143S)
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: L1143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: L1143S

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: L1143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: L1143S

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A 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
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
Predicted Primers PCR Primer
(F):5'- TACAGTCTCCTGAGGGACACAC -3'
(R):5'- TGGATGACTTCAAGGCCTGG -3'

Sequencing Primer
(F):5'- ACACCTGACCCAGCTCTGTATG -3'
(R):5'- ATGACTTCAAGGCCTGGCTGTC -3'
Posted On 2015-06-20