Incidental Mutation 'R2042:Spta1'
ID 225013
Institutional Source Beutler Lab
Gene Symbol Spta1
Ensembl Gene ENSMUSG00000026532
Gene Name spectrin alpha, erythrocytic 1
Synonyms erythroid, Spna-1, ihj, Spna1
MMRRC Submission 040049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 174000342-174076016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 174039213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1185 (M1185I)
Ref Sequence ENSEMBL: ENSMUSP00000027817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027817]
AlphaFold P08032
Predicted Effect probably benign
Transcript: ENSMUST00000027817
AA Change: M1185I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027817
Gene: ENSMUSG00000026532
AA Change: M1185I

DomainStartEndE-ValueType
SPEC 55 153 3.62e-11 SMART
SPEC 159 259 1.84e-26 SMART
SPEC 265 365 1.56e-24 SMART
SPEC 371 471 8.35e-25 SMART
SPEC 477 577 1.19e-29 SMART
SPEC 583 682 2.43e-26 SMART
SPEC 688 788 1.3e-26 SMART
SPEC 794 894 1.66e-28 SMART
SPEC 900 1077 5.03e-19 SMART
SH3 978 1033 2.98e-15 SMART
SPEC 1083 1178 2.57e-16 SMART
SPEC 1184 1284 1.15e-27 SMART
SPEC 1290 1390 7.05e-23 SMART
SPEC 1396 1495 6.04e-22 SMART
SPEC 1501 1602 1.15e-27 SMART
SPEC 1608 1708 5.46e-29 SMART
SPEC 1714 1814 1.08e-32 SMART
SPEC 1820 1921 2.17e-23 SMART
SPEC 1927 2028 2.19e-19 SMART
SPEC 2042 2142 3.87e-11 SMART
SPEC 2156 2253 9.77e-8 SMART
low complexity region 2307 2318 N/A INTRINSIC
efhand_Ca_insen 2346 2414 2.37e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156092
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E possibly damaging Het
Other mutations in Spta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Spta1 APN 1 174,035,956 (GRCm39) nonsense probably null
IGL01095:Spta1 APN 1 174,041,051 (GRCm39) missense probably benign 0.02
IGL01144:Spta1 APN 1 174,014,829 (GRCm39) missense probably benign 0.05
IGL01455:Spta1 APN 1 174,030,877 (GRCm39) missense possibly damaging 0.78
IGL01541:Spta1 APN 1 174,044,725 (GRCm39) missense probably benign 0.03
IGL01613:Spta1 APN 1 174,035,960 (GRCm39) missense probably damaging 1.00
IGL01804:Spta1 APN 1 174,071,746 (GRCm39) missense probably benign 0.42
IGL01859:Spta1 APN 1 174,001,938 (GRCm39) missense probably damaging 1.00
IGL01898:Spta1 APN 1 174,041,428 (GRCm39) missense probably benign 0.00
IGL02106:Spta1 APN 1 174,030,860 (GRCm39) missense probably benign 0.02
IGL02166:Spta1 APN 1 174,017,797 (GRCm39) missense probably damaging 1.00
IGL02224:Spta1 APN 1 174,045,255 (GRCm39) critical splice donor site probably benign
IGL02318:Spta1 APN 1 174,002,029 (GRCm39) missense possibly damaging 0.51
IGL02392:Spta1 APN 1 174,046,380 (GRCm39) missense probably damaging 0.96
IGL02852:Spta1 APN 1 174,071,676 (GRCm39) missense probably benign 0.24
IGL02861:Spta1 APN 1 174,039,164 (GRCm39) missense probably damaging 1.00
IGL02982:Spta1 APN 1 174,014,854 (GRCm39) missense probably benign 0.00
IGL03057:Spta1 APN 1 174,008,624 (GRCm39) missense probably benign 0.19
IGL03215:Spta1 APN 1 174,046,309 (GRCm39) missense probably damaging 1.00
IGL03263:Spta1 APN 1 174,041,484 (GRCm39) missense probably damaging 0.99
IGL03272:Spta1 APN 1 174,041,710 (GRCm39) missense probably benign 0.08
bounced UTSW 1 174,052,023 (GRCm39) missense probably damaging 1.00
Capillus UTSW 1 174,045,254 (GRCm39) critical splice donor site probably null
Deflection UTSW 1 174,068,653 (GRCm39) missense probably damaging 1.00
Goldfoil UTSW 1 174,046,078 (GRCm39) missense probably damaging 1.00
hanging UTSW 1 174,006,315 (GRCm39) missense probably damaging 0.99
Klimt UTSW 1 174,029,952 (GRCm39) missense probably damaging 1.00
Rutherford UTSW 1 174,034,676 (GRCm39) missense probably null 1.00
Thread UTSW 1 174,025,201 (GRCm39) nonsense probably null
H8786:Spta1 UTSW 1 174,007,405 (GRCm39) missense probably damaging 0.98
R0003:Spta1 UTSW 1 174,032,839 (GRCm39) missense probably damaging 0.98
R0003:Spta1 UTSW 1 174,032,839 (GRCm39) missense probably damaging 0.98
R0010:Spta1 UTSW 1 174,045,509 (GRCm39) missense probably benign 0.03
R0010:Spta1 UTSW 1 174,045,509 (GRCm39) missense probably benign 0.03
R0078:Spta1 UTSW 1 174,034,598 (GRCm39) splice site probably benign
R0172:Spta1 UTSW 1 174,058,352 (GRCm39) missense probably damaging 1.00
R0206:Spta1 UTSW 1 174,020,526 (GRCm39) missense probably damaging 1.00
R0208:Spta1 UTSW 1 174,020,526 (GRCm39) missense probably damaging 1.00
R0276:Spta1 UTSW 1 174,045,460 (GRCm39) missense probably damaging 1.00
R0288:Spta1 UTSW 1 174,070,745 (GRCm39) missense probably damaging 0.99
R0323:Spta1 UTSW 1 174,046,017 (GRCm39) missense probably damaging 1.00
R0454:Spta1 UTSW 1 174,041,508 (GRCm39) missense probably damaging 1.00
R0508:Spta1 UTSW 1 174,052,023 (GRCm39) missense probably damaging 1.00
R0698:Spta1 UTSW 1 174,008,670 (GRCm39) missense probably damaging 1.00
R0751:Spta1 UTSW 1 174,012,256 (GRCm39) missense probably damaging 1.00
R0925:Spta1 UTSW 1 174,001,992 (GRCm39) missense possibly damaging 0.85
R0941:Spta1 UTSW 1 174,072,771 (GRCm39) unclassified probably benign
R1131:Spta1 UTSW 1 174,013,213 (GRCm39) missense probably damaging 1.00
R1171:Spta1 UTSW 1 174,039,180 (GRCm39) nonsense probably null
R1184:Spta1 UTSW 1 174,012,256 (GRCm39) missense probably damaging 1.00
R1401:Spta1 UTSW 1 174,050,250 (GRCm39) missense probably damaging 1.00
R1489:Spta1 UTSW 1 174,058,891 (GRCm39) missense probably damaging 0.97
R1532:Spta1 UTSW 1 174,074,919 (GRCm39) missense probably damaging 0.99
R1551:Spta1 UTSW 1 174,067,732 (GRCm39) missense possibly damaging 0.94
R1555:Spta1 UTSW 1 174,006,315 (GRCm39) missense probably damaging 0.99
R1566:Spta1 UTSW 1 174,012,272 (GRCm39) missense probably benign 0.00
R1586:Spta1 UTSW 1 174,041,061 (GRCm39) missense probably benign 0.00
R1676:Spta1 UTSW 1 174,007,405 (GRCm39) missense probably damaging 0.98
R1711:Spta1 UTSW 1 174,068,608 (GRCm39) missense probably damaging 1.00
R1795:Spta1 UTSW 1 174,073,296 (GRCm39) missense probably damaging 1.00
R1823:Spta1 UTSW 1 174,074,115 (GRCm39) missense probably benign 0.05
R1842:Spta1 UTSW 1 174,023,513 (GRCm39) missense probably benign 0.00
R1867:Spta1 UTSW 1 174,047,405 (GRCm39) missense probably benign 0.33
R1970:Spta1 UTSW 1 174,067,933 (GRCm39) missense possibly damaging 0.88
R2095:Spta1 UTSW 1 174,071,764 (GRCm39) missense possibly damaging 0.75
R2125:Spta1 UTSW 1 174,035,910 (GRCm39) missense possibly damaging 0.80
R2145:Spta1 UTSW 1 174,040,180 (GRCm39) missense probably benign 0.00
R2158:Spta1 UTSW 1 174,056,824 (GRCm39) missense probably benign 0.41
R2187:Spta1 UTSW 1 174,020,532 (GRCm39) missense probably damaging 1.00
R2250:Spta1 UTSW 1 174,071,680 (GRCm39) missense probably damaging 1.00
R2258:Spta1 UTSW 1 174,001,907 (GRCm39) missense possibly damaging 0.76
R2319:Spta1 UTSW 1 174,006,222 (GRCm39) critical splice acceptor site probably null
R3782:Spta1 UTSW 1 174,035,880 (GRCm39) missense probably damaging 1.00
R4058:Spta1 UTSW 1 174,068,703 (GRCm39) missense probably damaging 1.00
R4080:Spta1 UTSW 1 174,041,632 (GRCm39) missense probably benign 0.00
R4081:Spta1 UTSW 1 174,041,632 (GRCm39) missense probably benign 0.00
R4082:Spta1 UTSW 1 174,041,632 (GRCm39) missense probably benign 0.00
R4108:Spta1 UTSW 1 174,002,122 (GRCm39) missense probably benign 0.01
R4115:Spta1 UTSW 1 174,067,923 (GRCm39) missense probably damaging 1.00
R4303:Spta1 UTSW 1 174,007,418 (GRCm39) missense probably damaging 1.00
R4419:Spta1 UTSW 1 174,074,990 (GRCm39) nonsense probably null
R4525:Spta1 UTSW 1 174,034,676 (GRCm39) missense probably null 1.00
R4614:Spta1 UTSW 1 174,020,543 (GRCm39) missense probably damaging 1.00
R4673:Spta1 UTSW 1 174,018,628 (GRCm39) splice site probably null
R4782:Spta1 UTSW 1 174,058,232 (GRCm39) missense probably benign 0.01
R4825:Spta1 UTSW 1 174,071,608 (GRCm39) critical splice acceptor site probably null
R4829:Spta1 UTSW 1 174,065,493 (GRCm39) missense probably benign 0.01
R4873:Spta1 UTSW 1 174,003,396 (GRCm39) missense probably damaging 1.00
R4875:Spta1 UTSW 1 174,003,396 (GRCm39) missense probably damaging 1.00
R4898:Spta1 UTSW 1 174,065,400 (GRCm39) missense possibly damaging 0.94
R4910:Spta1 UTSW 1 174,045,429 (GRCm39) splice site probably null
R4911:Spta1 UTSW 1 174,013,213 (GRCm39) missense probably damaging 1.00
R4928:Spta1 UTSW 1 174,018,622 (GRCm39) missense probably benign 0.15
R4959:Spta1 UTSW 1 174,074,174 (GRCm39) missense probably damaging 0.97
R5009:Spta1 UTSW 1 174,067,789 (GRCm39) missense possibly damaging 0.62
R5149:Spta1 UTSW 1 174,075,000 (GRCm39) missense probably damaging 0.99
R5293:Spta1 UTSW 1 174,023,551 (GRCm39) missense probably damaging 0.99
R5421:Spta1 UTSW 1 174,043,095 (GRCm39) missense probably damaging 0.99
R5457:Spta1 UTSW 1 174,044,759 (GRCm39) missense probably damaging 1.00
R5590:Spta1 UTSW 1 174,003,336 (GRCm39) missense possibly damaging 0.73
R5606:Spta1 UTSW 1 174,047,468 (GRCm39) missense probably damaging 1.00
R5736:Spta1 UTSW 1 174,041,821 (GRCm39) critical splice donor site probably null
R5834:Spta1 UTSW 1 174,012,363 (GRCm39) splice site probably null
R5845:Spta1 UTSW 1 174,068,662 (GRCm39) missense probably damaging 0.97
R5987:Spta1 UTSW 1 174,050,894 (GRCm39) missense probably damaging 1.00
R6102:Spta1 UTSW 1 174,052,086 (GRCm39) missense probably benign 0.01
R6221:Spta1 UTSW 1 174,009,342 (GRCm39) missense probably damaging 1.00
R6276:Spta1 UTSW 1 174,046,078 (GRCm39) missense probably damaging 1.00
R6317:Spta1 UTSW 1 174,068,653 (GRCm39) missense probably damaging 1.00
R6329:Spta1 UTSW 1 174,041,743 (GRCm39) missense possibly damaging 0.60
R6352:Spta1 UTSW 1 174,039,212 (GRCm39) missense possibly damaging 0.94
R6374:Spta1 UTSW 1 174,041,734 (GRCm39) missense probably damaging 1.00
R6376:Spta1 UTSW 1 174,030,888 (GRCm39) missense probably benign
R6387:Spta1 UTSW 1 174,058,899 (GRCm39) missense probably benign 0.01
R6451:Spta1 UTSW 1 174,044,767 (GRCm39) missense probably damaging 0.97
R6480:Spta1 UTSW 1 174,014,714 (GRCm39) splice site probably null
R6533:Spta1 UTSW 1 174,071,713 (GRCm39) missense probably damaging 1.00
R6585:Spta1 UTSW 1 174,006,251 (GRCm39) missense probably damaging 1.00
R6695:Spta1 UTSW 1 174,071,608 (GRCm39) critical splice acceptor site probably null
R6945:Spta1 UTSW 1 174,036,891 (GRCm39) missense possibly damaging 0.89
R7020:Spta1 UTSW 1 174,036,918 (GRCm39) missense probably damaging 1.00
R7086:Spta1 UTSW 1 174,027,050 (GRCm39) missense probably damaging 0.98
R7087:Spta1 UTSW 1 174,002,076 (GRCm39) missense probably benign
R7151:Spta1 UTSW 1 174,025,317 (GRCm39) missense probably damaging 1.00
R7193:Spta1 UTSW 1 174,012,178 (GRCm39) missense probably damaging 1.00
R7199:Spta1 UTSW 1 174,050,837 (GRCm39) missense possibly damaging 0.61
R7219:Spta1 UTSW 1 174,050,203 (GRCm39) missense probably damaging 0.96
R7343:Spta1 UTSW 1 174,050,915 (GRCm39) missense probably damaging 0.99
R7372:Spta1 UTSW 1 174,025,201 (GRCm39) nonsense probably null
R7472:Spta1 UTSW 1 174,074,065 (GRCm39) missense probably damaging 1.00
R7516:Spta1 UTSW 1 174,025,349 (GRCm39) missense probably damaging 1.00
R7627:Spta1 UTSW 1 174,032,944 (GRCm39) missense probably damaging 1.00
R7770:Spta1 UTSW 1 174,023,547 (GRCm39) nonsense probably null
R7784:Spta1 UTSW 1 174,030,017 (GRCm39) missense probably damaging 1.00
R7804:Spta1 UTSW 1 174,023,471 (GRCm39) missense possibly damaging 0.50
R7854:Spta1 UTSW 1 174,046,396 (GRCm39) critical splice donor site probably null
R7862:Spta1 UTSW 1 174,025,351 (GRCm39) critical splice donor site probably null
R7958:Spta1 UTSW 1 174,001,956 (GRCm39) missense probably benign 0.03
R8015:Spta1 UTSW 1 174,067,737 (GRCm39) missense probably damaging 1.00
R8059:Spta1 UTSW 1 174,045,936 (GRCm39) intron probably benign
R8076:Spta1 UTSW 1 174,014,797 (GRCm39) missense probably benign 0.00
R8152:Spta1 UTSW 1 174,045,510 (GRCm39) missense probably benign 0.03
R8235:Spta1 UTSW 1 174,029,952 (GRCm39) missense probably damaging 1.00
R8284:Spta1 UTSW 1 174,007,387 (GRCm39) missense probably benign 0.00
R8298:Spta1 UTSW 1 174,074,953 (GRCm39) missense probably damaging 1.00
R8312:Spta1 UTSW 1 174,067,777 (GRCm39) missense probably damaging 1.00
R8495:Spta1 UTSW 1 174,043,051 (GRCm39) missense probably benign 0.00
R8550:Spta1 UTSW 1 174,014,774 (GRCm39) missense probably damaging 1.00
R8675:Spta1 UTSW 1 174,058,249 (GRCm39) missense probably benign 0.01
R8757:Spta1 UTSW 1 174,040,940 (GRCm39) missense probably damaging 1.00
R8759:Spta1 UTSW 1 174,040,940 (GRCm39) missense probably damaging 1.00
R8848:Spta1 UTSW 1 174,025,310 (GRCm39) missense probably benign 0.05
R8883:Spta1 UTSW 1 174,021,145 (GRCm39) missense possibly damaging 0.82
R8884:Spta1 UTSW 1 174,045,254 (GRCm39) critical splice donor site probably null
R8896:Spta1 UTSW 1 174,045,548 (GRCm39) missense probably damaging 1.00
R8953:Spta1 UTSW 1 174,058,241 (GRCm39) missense probably benign 0.10
R9006:Spta1 UTSW 1 174,047,537 (GRCm39) missense probably damaging 1.00
R9013:Spta1 UTSW 1 174,050,174 (GRCm39) missense probably damaging 1.00
R9077:Spta1 UTSW 1 174,045,170 (GRCm39) missense probably damaging 1.00
R9129:Spta1 UTSW 1 174,058,911 (GRCm39) missense possibly damaging 0.77
R9207:Spta1 UTSW 1 174,039,139 (GRCm39) missense probably benign 0.01
R9229:Spta1 UTSW 1 174,067,750 (GRCm39) missense probably damaging 1.00
R9281:Spta1 UTSW 1 174,047,444 (GRCm39) missense probably damaging 1.00
R9290:Spta1 UTSW 1 174,045,204 (GRCm39) missense possibly damaging 0.94
R9307:Spta1 UTSW 1 174,035,978 (GRCm39) missense probably damaging 1.00
R9489:Spta1 UTSW 1 174,035,880 (GRCm39) missense probably damaging 1.00
R9605:Spta1 UTSW 1 174,035,880 (GRCm39) missense probably damaging 1.00
R9685:Spta1 UTSW 1 174,032,925 (GRCm39) missense probably damaging 1.00
RF002:Spta1 UTSW 1 174,058,926 (GRCm39) missense possibly damaging 0.62
RF018:Spta1 UTSW 1 174,036,885 (GRCm39) missense probably damaging 1.00
RF020:Spta1 UTSW 1 174,045,469 (GRCm39) missense probably damaging 1.00
RF020:Spta1 UTSW 1 174,041,010 (GRCm39) missense probably benign 0.42
T0722:Spta1 UTSW 1 174,018,632 (GRCm39) splice site probably benign
X0028:Spta1 UTSW 1 174,052,016 (GRCm39) missense probably damaging 1.00
Z1176:Spta1 UTSW 1 174,067,933 (GRCm39) missense probably damaging 0.99
Z1176:Spta1 UTSW 1 174,018,617 (GRCm39) missense probably damaging 1.00
Z1177:Spta1 UTSW 1 174,073,255 (GRCm39) missense probably benign 0.02
Z1177:Spta1 UTSW 1 174,017,728 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GAGAAGCAAAGCTATGTGCACTC -3'
(R):5'- TGTCAAGTGAGGAAACTTTTGC -3'

Sequencing Primer
(F):5'- GCAAAGCTATGTGCACTCTATAGG -3'
(R):5'- TGAGGAAACTTTTGCTGAACG -3'
Posted On 2014-08-25