Incidental Mutation 'IGL00771:Spsb1'
ID 14229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spsb1
Ensembl Gene ENSMUSG00000039911
Gene Name splA/ryanodine receptor domain and SOCS box containing 1
Synonyms SSB1, 1110014L01Rik, 4930422J18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL00771
Quality Score
Status
Chromosome 4
Chromosomal Location 149980740-150039494 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) C to T at 149991564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000119558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038562] [ENSMUST00000105684] [ENSMUST00000105685] [ENSMUST00000125135] [ENSMUST00000149360] [ENSMUST00000149743] [ENSMUST00000156897] [ENSMUST00000167342]
AlphaFold Q9D5L7
Predicted Effect probably null
Transcript: ENSMUST00000038562
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: M1I

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105684
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: M1I

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105685
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: M1I

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125135
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146532
Predicted Effect probably null
Transcript: ENSMUST00000149360
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably null
Transcript: ENSMUST00000149743
AA Change: M1I
Predicted Effect probably null
Transcript: ENSMUST00000156897
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: M1I

DomainStartEndE-ValueType
Pfam:SPRY 95 201 5.8e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167342
AA Change: M1I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156451
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,452,855 (GRCm39) L28S possibly damaging Het
Abca13 T A 11: 9,240,870 (GRCm39) L911Q probably damaging Het
Armc9 C A 1: 86,127,557 (GRCm39) probably null Het
Asxl2 A G 12: 3,524,560 (GRCm39) H196R probably damaging Het
Atm T C 9: 53,404,354 (GRCm39) D1329G probably benign Het
Cds2 T C 2: 132,146,272 (GRCm39) probably benign Het
Cep295 A T 9: 15,233,861 (GRCm39) C2184S probably damaging Het
Cpeb2 T C 5: 43,394,890 (GRCm39) F623L possibly damaging Het
Dmd G A X: 82,951,978 (GRCm39) probably null Het
F11r T A 1: 171,290,510 (GRCm39) probably null Het
Gbp3 C T 3: 142,271,005 (GRCm39) probably benign Het
Gpc4 A G X: 51,163,527 (GRCm39) S119P possibly damaging Het
H2-M10.2 A G 17: 36,597,288 (GRCm39) L9P probably damaging Het
Ica1l T C 1: 60,053,106 (GRCm39) D144G probably damaging Het
Jaml A G 9: 45,005,105 (GRCm39) K124E possibly damaging Het
Lamc2 T C 1: 153,005,802 (GRCm39) N950S probably benign Het
Ltbp1 A T 17: 75,669,511 (GRCm39) D1099V probably damaging Het
Mlxipl C T 5: 135,161,632 (GRCm39) T517I probably damaging Het
Nbeal1 C T 1: 60,274,512 (GRCm39) R308C probably benign Het
Nlrp1a A T 11: 71,013,567 (GRCm39) L561* probably null Het
Prom1 A T 5: 44,187,118 (GRCm39) probably benign Het
Ptprc T A 1: 138,041,415 (GRCm39) E148V probably benign Het
Rap1gap T C 4: 137,443,835 (GRCm39) V224A probably damaging Het
Slc7a6 T C 8: 106,905,872 (GRCm39) S35P probably benign Het
Snx17 C T 5: 31,354,679 (GRCm39) R314C probably damaging Het
Spats2l T C 1: 57,982,231 (GRCm39) L371P probably damaging Het
Sv2a G A 3: 96,100,600 (GRCm39) V661I probably benign Het
Taar7b T A 10: 23,876,096 (GRCm39) V87E probably benign Het
Tcf7l2 G A 19: 55,905,853 (GRCm39) V292I probably damaging Het
Teddm1b T A 1: 153,750,340 (GRCm39) C50S possibly damaging Het
Trmt10a A G 3: 137,856,216 (GRCm39) D159G probably benign Het
Urod T C 4: 116,847,581 (GRCm39) N336S probably damaging Het
Usp8 A G 2: 126,567,353 (GRCm39) probably null Het
Zfp182 A G X: 20,896,896 (GRCm39) Y467H probably damaging Het
Other mutations in Spsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Spsb1 UTSW 4 150,036,943 (GRCm39) intron probably benign
R0200:Spsb1 UTSW 4 149,982,673 (GRCm39) makesense probably null
R0681:Spsb1 UTSW 4 149,991,374 (GRCm39) missense probably benign
R0733:Spsb1 UTSW 4 149,991,374 (GRCm39) missense probably benign
R0894:Spsb1 UTSW 4 149,990,872 (GRCm39) critical splice donor site probably null
R0947:Spsb1 UTSW 4 149,991,536 (GRCm39) missense probably benign 0.00
R1840:Spsb1 UTSW 4 149,991,088 (GRCm39) missense probably damaging 0.99
R1845:Spsb1 UTSW 4 149,991,367 (GRCm39) missense probably damaging 1.00
R4356:Spsb1 UTSW 4 149,991,232 (GRCm39) missense probably damaging 1.00
R4357:Spsb1 UTSW 4 149,991,232 (GRCm39) missense probably damaging 1.00
R4358:Spsb1 UTSW 4 149,991,232 (GRCm39) missense probably damaging 1.00
R4359:Spsb1 UTSW 4 149,991,232 (GRCm39) missense probably damaging 1.00
R4656:Spsb1 UTSW 4 149,990,867 (GRCm39) splice site probably null
R4970:Spsb1 UTSW 4 149,991,612 (GRCm39) start gained probably benign
R6304:Spsb1 UTSW 4 149,991,188 (GRCm39) missense probably benign 0.30
R6767:Spsb1 UTSW 4 149,991,301 (GRCm39) missense probably damaging 1.00
R7502:Spsb1 UTSW 4 149,991,385 (GRCm39) missense possibly damaging 0.88
R7615:Spsb1 UTSW 4 149,991,357 (GRCm39) missense probably benign
R7944:Spsb1 UTSW 4 149,990,903 (GRCm39) missense probably benign 0.00
R7974:Spsb1 UTSW 4 149,991,566 (GRCm39) start codon destroyed probably damaging 1.00
R8945:Spsb1 UTSW 4 149,991,475 (GRCm39) missense possibly damaging 0.90
R9461:Spsb1 UTSW 4 149,990,907 (GRCm39) nonsense probably null
Posted On 2012-12-06