Incidental Mutation 'R4357:Spsb1'
ID 324596
Institutional Source Beutler Lab
Gene Symbol Spsb1
Ensembl Gene ENSMUSG00000039911
Gene Name splA/ryanodine receptor domain and SOCS box containing 1
Synonyms SSB1, 1110014L01Rik, 4930422J18Rik
MMRRC Submission 041109-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4357 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 149980740-150039494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149991232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 112 (H112R)
Ref Sequence ENSEMBL: ENSMUSP00000119558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038562] [ENSMUST00000105684] [ENSMUST00000105685] [ENSMUST00000125135] [ENSMUST00000149360] [ENSMUST00000156897] [ENSMUST00000167342] [ENSMUST00000149743]
AlphaFold Q9D5L7
Predicted Effect probably damaging
Transcript: ENSMUST00000038562
AA Change: H112R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: H112R

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105684
AA Change: H112R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: H112R

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105685
AA Change: H112R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: H112R

DomainStartEndE-ValueType
SPRY 95 230 4.93e-19 SMART
SOCS_box 234 273 2.04e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146532
Predicted Effect probably benign
Transcript: ENSMUST00000149360
Predicted Effect probably damaging
Transcript: ENSMUST00000156897
AA Change: H112R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: H112R

DomainStartEndE-ValueType
Pfam:SPRY 95 201 5.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156451
Predicted Effect probably benign
Transcript: ENSMUST00000167342
Predicted Effect probably benign
Transcript: ENSMUST00000149743
Meta Mutation Damage Score 0.7283 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,084 (GRCm39) T65A possibly damaging Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ap4m1 A G 5: 138,171,311 (GRCm39) E125G probably damaging Het
Atp13a2 C A 4: 140,729,215 (GRCm39) D599E probably benign Het
Brme1 T C 8: 84,886,221 (GRCm39) L59P probably benign Het
Camkv G A 9: 107,825,145 (GRCm39) G354E probably benign Het
Casp8ap2 T A 4: 32,646,150 (GRCm39) M1741K probably benign Het
Chtf18 T C 17: 25,938,106 (GRCm39) D119G probably benign Het
Cnga1 T A 5: 72,775,595 (GRCm39) D42V probably damaging Het
Cysltr2 T C 14: 73,267,084 (GRCm39) I209V probably benign Het
Defa27 A T 8: 21,805,608 (GRCm39) Q16L probably null Het
Dnaja3 T C 16: 4,517,731 (GRCm39) I321T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif2ak3 T A 6: 70,861,859 (GRCm39) I467N probably damaging Het
Eif5b T A 1: 38,089,339 (GRCm39) V1105E probably damaging Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Gm10803 A G 2: 93,394,350 (GRCm39) R41G unknown Het
Gm38392 A T 3: 88,154,741 (GRCm39) I221N probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hsd17b6 G T 10: 127,829,637 (GRCm39) probably null Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lats2 A G 14: 57,936,840 (GRCm39) S550P probably damaging Het
Lmo7 A G 14: 102,125,091 (GRCm39) R406G probably null Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrfip2 A G 9: 111,028,755 (GRCm39) E326G probably damaging Het
Megf8 T A 7: 25,055,174 (GRCm39) I1969N probably benign Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Ngf A G 3: 102,427,521 (GRCm39) E94G probably benign Het
Oas2 C T 5: 120,876,734 (GRCm39) probably null Het
Odf2 A G 2: 29,782,256 (GRCm39) T75A probably benign Het
Or4f60 A G 2: 111,902,583 (GRCm39) L115P probably damaging Het
Or5w11 T A 2: 87,458,810 (GRCm39) M1K probably null Het
Pi4ka T A 16: 17,185,303 (GRCm39) I266F probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd2 T G 16: 20,475,402 (GRCm39) D393E probably benign Het
Rabep2 A G 7: 126,047,397 (GRCm39) I753T probably damaging Het
Rara A C 11: 98,858,937 (GRCm39) I129L probably damaging Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spmip4 T C 6: 50,551,190 (GRCm39) T420A probably benign Het
Sptlc1 A T 13: 53,528,068 (GRCm39) I32K probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Ssrp1 A T 2: 84,871,495 (GRCm39) M306L probably benign Het
Sulf2 T C 2: 165,919,497 (GRCm39) E817G probably benign Het
Tiam2 C A 17: 3,501,128 (GRCm39) D922E probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Ttll12 A T 15: 83,465,958 (GRCm39) C413S probably damaging Het
Usp45 T A 4: 21,834,350 (GRCm39) Y809* probably null Het
Vmn2r59 G A 7: 41,661,644 (GRCm39) P724S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Spsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Spsb1 APN 4 149,991,564 (GRCm39) start codon destroyed probably null 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAAGGTCCCATCATCCATGTCC -3'
(R):5'- TCCTGGAACAATAACGACCG -3'

Sequencing Primer
(F):5'- ACAATGAATGTCTCGTCCGG -3'
(R):5'- TGGAACAATAACGACCGTTCGC -3'
Posted On 2015-06-24