Incidental Mutation 'R5874:Sptb'
ID 455405
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 044081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R5874 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76627262-76757321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76645501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2029 (E2029G)
Ref Sequence ENSEMBL: ENSMUSP00000021458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000166101]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021458
AA Change: E2029G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: E2029G

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 possibly damaging
Transcript: ENSMUST00000166101
AA Change: E2029G

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: E2029G

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 0.5285 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 98% (86/88)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,280,610 (GRCm39) noncoding transcript Het
Adam17 T C 12: 21,379,087 (GRCm39) D654G possibly damaging Het
Ankhd1 A T 18: 36,773,322 (GRCm39) H1373L possibly damaging Het
Ankrd17 T C 5: 90,416,656 (GRCm39) probably benign Het
Calu A G 6: 29,372,617 (GRCm39) D112G probably damaging Het
Camk2a G C 18: 61,076,272 (GRCm39) probably benign Het
Cpn1 C A 19: 43,944,951 (GRCm39) R452L probably benign Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cuedc2 C T 19: 46,319,824 (GRCm39) V164M possibly damaging Het
Cyp2d34 T A 15: 82,503,243 (GRCm39) D74V probably benign Het
Ddi2 A G 4: 141,422,780 (GRCm39) S311P probably damaging Het
Ddx10 A C 9: 53,140,498 (GRCm39) I301R possibly damaging Het
Dmpk T C 7: 18,826,007 (GRCm39) probably benign Het
Dnah7b C T 1: 46,230,885 (GRCm39) T1381I probably damaging Het
Dst T A 1: 34,218,670 (GRCm39) N1703K probably damaging Het
Dtwd1 T A 2: 126,000,359 (GRCm39) H98Q probably damaging Het
Ecel1 A C 1: 87,075,731 (GRCm39) V769G probably benign Het
Eno4 T C 19: 58,935,238 (GRCm39) V150A probably benign Het
Evc2 C T 5: 37,574,883 (GRCm39) probably benign Het
Ext1 T A 15: 52,965,148 (GRCm39) Q406L possibly damaging Het
Foxf2 A G 13: 31,810,775 (GRCm39) H238R probably benign Het
Frem2 C G 3: 53,444,910 (GRCm39) G2407A probably benign Het
Fzd10 A G 5: 128,678,364 (GRCm39) E28G probably benign Het
Galnt15 T C 14: 31,774,324 (GRCm39) F363L probably damaging Het
Gm1758 C T 16: 14,325,037 (GRCm39) noncoding transcript Het
Gm5866 C T 5: 52,739,956 (GRCm39) noncoding transcript Het
Heatr9 T A 11: 83,405,426 (GRCm39) M345L probably benign Het
Il23r A T 6: 67,408,629 (GRCm39) F404Y possibly damaging Het
Lrrc8a T C 2: 30,147,148 (GRCm39) I654T probably damaging Het
Napg A T 18: 63,111,091 (GRCm39) K18* probably null Het
Ndst3 A T 3: 123,355,556 (GRCm39) W573R probably damaging Het
Nin T C 12: 70,077,692 (GRCm39) S1038G possibly damaging Het
Nudt12 T A 17: 59,317,279 (GRCm39) R123* probably null Het
Oas1g T A 5: 121,015,081 (GRCm39) N361Y probably benign Het
Or5p51 T A 7: 107,444,377 (GRCm39) I188L probably benign Het
Or7a35 T A 10: 78,853,191 (GRCm39) F12I possibly damaging Het
Or8h10 A T 2: 86,808,786 (GRCm39) M118K probably damaging Het
Osbpl10 T C 9: 115,055,828 (GRCm39) F667L probably damaging Het
Phldb2 T C 16: 45,621,988 (GRCm39) D664G probably damaging Het
Piezo2 C T 18: 63,160,972 (GRCm39) V2263M probably damaging Het
Pkd1l1 A G 11: 8,858,688 (GRCm39) L615P probably damaging Het
Pnpla7 G A 2: 24,901,661 (GRCm39) M562I probably benign Het
Pou2af2 A T 9: 51,201,672 (GRCm39) L128* probably null Het
Ppp1r13b C A 12: 111,811,423 (GRCm39) R155L probably damaging Het
Pygb C T 2: 150,628,798 (GRCm39) P4L probably benign Het
Rbm44 T C 1: 91,084,562 (GRCm39) probably null Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rin3 A G 12: 102,356,102 (GRCm39) Y801C probably damaging Het
Rnf112 A G 11: 61,340,273 (GRCm39) V619A probably damaging Het
Rnf182 A G 13: 43,821,563 (GRCm39) E38G probably benign Het
Scgb2b24 T A 7: 33,436,830 (GRCm39) Y94F probably damaging Het
Serac1 C A 17: 6,094,188 (GRCm39) probably benign Het
Shld2 T C 14: 33,967,215 (GRCm39) T114A probably benign Het
Slc6a19 A T 13: 73,832,487 (GRCm39) V402D probably damaging Het
Slco1a8 A T 6: 141,917,961 (GRCm39) H638Q probably benign Het
Slco2b1 T A 7: 99,316,301 (GRCm39) M410L probably benign Het
Smarca2 T C 19: 26,753,469 (GRCm39) probably benign Het
Sned1 A G 1: 93,193,067 (GRCm39) Y409C probably damaging Het
Sorcs2 A G 5: 36,386,555 (GRCm39) V161A probably damaging Het
Spring1 T C 5: 118,397,504 (GRCm39) V162A probably damaging Het
Stx7 T A 10: 24,058,659 (GRCm39) probably null Het
Taf4b T C 18: 14,937,611 (GRCm39) V228A probably benign Het
Tbc1d1 A G 5: 64,507,273 (GRCm39) *1163W probably null Het
Tor4a G A 2: 25,084,847 (GRCm39) A352V probably damaging Het
Trpm4 A G 7: 44,977,173 (GRCm39) F81S probably damaging Het
Ttn T A 2: 76,780,436 (GRCm39) D1105V probably damaging Het
Vcf1 T A 11: 113,568,220 (GRCm39) R78S probably damaging Het
Yju2b T A 8: 84,985,177 (GRCm39) D364V possibly damaging Het
Zfp551 A G 7: 12,150,101 (GRCm39) L436P probably damaging Het
Zfp975 G T 7: 42,312,312 (GRCm39) D100E probably benign Het
Zswim3 A G 2: 164,662,032 (GRCm39) I171V probably benign Het
Zwint C T 10: 72,492,294 (GRCm39) probably benign 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
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'- CTGAGTACAGGACATGAGAACC -3'
(R):5'- GGGCTAAAGTGGCTATAGGC -3'

Sequencing Primer
(F):5'- AGCATCCCAAGAGCTGCG -3'
(R):5'- TGGCTATAGGCAGAAACTCAC -3'
Posted On 2017-02-10