Incidental Mutation 'R1845:Spsb1'
ID 207628
Institutional Source Beutler Lab
Gene Symbol Spsb1
Ensembl Gene ENSMUSG00000039911
Gene Name splA/ryanodine receptor domain and SOCS box containing 1
Synonyms 1110014L01Rik, SSB1, 4930422J18Rik
MMRRC Submission 039870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 149896283-149955043 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149906910 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 67 (V67E)
Ref Sequence ENSEMBL: ENSMUSP00000101310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038562] [ENSMUST00000105684] [ENSMUST00000105685] [ENSMUST00000125135] [ENSMUST00000149360] [ENSMUST00000149743] [ENSMUST00000156897] [ENSMUST00000167342]
AlphaFold Q9D5L7
Predicted Effect probably damaging
Transcript: ENSMUST00000038562
AA Change: V67E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: V67E

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: V67E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: V67E

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: V67E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: V67E

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 benign
Transcript: ENSMUST00000149743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156451
Predicted Effect probably damaging
Transcript: ENSMUST00000156897
AA Change: V67E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: V67E

DomainStartEndE-ValueType
Pfam:SPRY 95 201 5.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167342
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,949,663 (GRCm38) probably benign Het
Abca17 A T 17: 24,267,716 (GRCm38) C1446S probably damaging Het
Asb16 C A 11: 102,276,756 (GRCm38) A316E possibly damaging Het
Axdnd1 C T 1: 156,376,544 (GRCm38) V384I possibly damaging Het
BC024139 A T 15: 76,125,261 (GRCm38) L207* probably null Het
Bcl3 T G 7: 19,809,627 (GRCm38) S305R probably damaging Het
Cachd1 T C 4: 100,777,358 (GRCm38) V77A probably benign Het
Cd101 C T 3: 101,029,448 (GRCm38) probably null Het
Cela1 T C 15: 100,685,167 (GRCm38) N64S probably benign Het
Cep128 T C 12: 91,289,598 (GRCm38) D366G probably benign Het
Col12a1 A G 9: 79,697,541 (GRCm38) V675A probably benign Het
Copg1 A G 6: 87,893,818 (GRCm38) Y201C probably damaging Het
Cyp24a1 T C 2: 170,487,917 (GRCm38) R372G probably benign Het
Dcaf1 A C 9: 106,851,962 (GRCm38) I567L probably benign Het
Dcn A G 10: 97,506,674 (GRCm38) D164G probably benign Het
Dnase2a T A 8: 84,909,322 (GRCm38) H113Q probably benign Het
Espl1 T C 15: 102,299,013 (GRCm38) V304A probably benign Het
Fam193a A G 5: 34,443,372 (GRCm38) D315G possibly damaging Het
Fkbp8 T A 8: 70,531,035 (GRCm38) probably null Het
Foxp4 T A 17: 47,877,959 (GRCm38) T321S probably null Het
Fut10 A G 8: 31,236,300 (GRCm38) N361S probably damaging Het
Gm13762 A G 2: 88,973,138 (GRCm38) V251A probably benign Het
Gyg1 A T 3: 20,151,122 (GRCm38) V94D probably damaging Het
Has2 T C 15: 56,668,578 (GRCm38) K247R probably damaging Het
Helz2 G T 2: 181,232,085 (GRCm38) D2205E probably benign Het
Hps6 T A 19: 46,004,970 (GRCm38) S449T probably benign Het
Ints10 T C 8: 68,794,671 (GRCm38) Y64H probably damaging Het
Kalrn T C 16: 34,356,961 (GRCm38) H278R probably damaging Het
Klhdc8a T C 1: 132,303,810 (GRCm38) V280A possibly damaging Het
Klk1b5 A G 7: 44,220,125 (GRCm38) M210V probably benign Het
Kmt2c G A 5: 25,373,436 (GRCm38) A614V probably benign Het
Lck T A 4: 129,558,086 (GRCm38) I45F probably benign Het
Lin7a A C 10: 107,412,059 (GRCm38) E75A probably damaging Het
Lrp1 A T 10: 127,578,673 (GRCm38) C1070S probably damaging Het
Mapk8ip3 G T 17: 24,914,583 (GRCm38) N289K probably benign Het
Mbtps1 T C 8: 119,522,493 (GRCm38) D686G probably benign Het
Mknk1 T A 4: 115,873,231 (GRCm38) C178* probably null Het
Mtmr6 A G 14: 60,296,735 (GRCm38) N474S probably damaging Het
Mvb12b A G 2: 33,840,157 (GRCm38) probably null Het
Myh6 T C 14: 54,944,674 (GRCm38) K1759R probably damaging Het
Nfatc1 T C 18: 80,635,531 (GRCm38) K881E possibly damaging Het
Nlrp10 A G 7: 108,927,041 (GRCm38) F30S probably damaging Het
Nop14 G T 5: 34,650,328 (GRCm38) A430E possibly damaging Het
Ntn4 C T 10: 93,707,353 (GRCm38) R314W probably damaging Het
Or1j18 A T 2: 36,734,842 (GRCm38) I174F probably damaging Het
Or4c107 A G 2: 88,958,867 (GRCm38) I134V probably damaging Het
Or6c205 A G 10: 129,250,594 (GRCm38) E20G probably benign Het
Or6c88 A T 10: 129,571,348 (GRCm38) Q231L probably damaging Het
Or7g17 A T 9: 18,857,486 (GRCm38) Y287F possibly damaging Het
Osbpl7 C A 11: 97,059,128 (GRCm38) S378R probably damaging Het
Otof A T 5: 30,371,723 (GRCm38) Y1775* probably null Het
Parp16 T C 9: 65,215,594 (GRCm38) S46P possibly damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pi16 A T 17: 29,319,387 (GRCm38) Q58L possibly damaging Het
Pld3 C A 7: 27,539,452 (GRCm38) M190I probably benign Het
Plscr4 T G 9: 92,490,046 (GRCm38) I290S probably damaging Het
Ppip5k2 T C 1: 97,723,806 (GRCm38) D928G possibly damaging Het
Ppp1r13l T A 7: 19,368,611 (GRCm38) L15Q probably damaging Het
Prorp T A 12: 55,304,332 (GRCm38) I142N possibly damaging Het
Ptpn14 C A 1: 189,839,502 (GRCm38) S263R possibly damaging Het
Sema7a G A 9: 57,954,899 (GRCm38) V178I possibly damaging Het
Sesn2 A T 4: 132,497,070 (GRCm38) Y342* probably null Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sltm A G 9: 70,543,032 (GRCm38) N38S possibly damaging Het
Smg1 T C 7: 118,154,622 (GRCm38) probably benign Het
Suox A G 10: 128,670,539 (GRCm38) V540A possibly damaging Het
Tbc1d12 T A 19: 38,911,085 (GRCm38) I483N probably damaging Het
Tbcb A T 7: 30,224,499 (GRCm38) D198E possibly damaging Het
Tbce T C 13: 14,019,709 (GRCm38) K122E probably benign Het
Tcap T A 11: 98,384,379 (GRCm38) L113H probably damaging Het
Thsd7a A T 6: 12,321,041 (GRCm38) I1545N probably damaging Het
Tmed10 T C 12: 85,374,503 (GRCm38) T55A possibly damaging Het
Tmem268 T A 4: 63,579,943 (GRCm38) V200D probably damaging Het
Tmem45b A C 9: 31,431,355 (GRCm38) I50M probably damaging Het
Trp53bp2 T C 1: 182,458,903 (GRCm38) W1103R probably damaging Het
Ttn C T 2: 76,764,033 (GRCm38) V20524M probably damaging Het
Ulk2 A T 11: 61,812,738 (GRCm38) N379K probably benign Het
Vmn1r59 A G 7: 5,454,554 (GRCm38) V69A probably benign Het
Vmn2r10 A T 5: 109,001,995 (GRCm38) Y394* probably null Het
Zfp212 T C 6: 47,931,541 (GRCm38) S485P probably benign Het
Zfp512b A T 2: 181,585,735 (GRCm38) C776S probably damaging Het
Zfp518b A G 5: 38,671,741 (GRCm38) Y974H probably damaging Het
Other mutations in Spsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Spsb1 APN 4 149,907,107 (GRCm38) start codon destroyed probably null 1.00
LCD18:Spsb1 UTSW 4 149,952,486 (GRCm38) intron probably benign
R0200:Spsb1 UTSW 4 149,898,216 (GRCm38) makesense probably null
R0681:Spsb1 UTSW 4 149,906,917 (GRCm38) missense probably benign
R0733:Spsb1 UTSW 4 149,906,917 (GRCm38) missense probably benign
R0894:Spsb1 UTSW 4 149,906,415 (GRCm38) critical splice donor site probably null
R0947:Spsb1 UTSW 4 149,907,079 (GRCm38) missense probably benign 0.00
R1840:Spsb1 UTSW 4 149,906,631 (GRCm38) missense probably damaging 0.99
R4356:Spsb1 UTSW 4 149,906,775 (GRCm38) missense probably damaging 1.00
R4357:Spsb1 UTSW 4 149,906,775 (GRCm38) missense probably damaging 1.00
R4358:Spsb1 UTSW 4 149,906,775 (GRCm38) missense probably damaging 1.00
R4359:Spsb1 UTSW 4 149,906,775 (GRCm38) missense probably damaging 1.00
R4656:Spsb1 UTSW 4 149,906,410 (GRCm38) splice site probably null
R4970:Spsb1 UTSW 4 149,907,155 (GRCm38) start gained probably benign
R6304:Spsb1 UTSW 4 149,906,731 (GRCm38) missense probably benign 0.30
R6767:Spsb1 UTSW 4 149,906,844 (GRCm38) missense probably damaging 1.00
R7502:Spsb1 UTSW 4 149,906,928 (GRCm38) missense possibly damaging 0.88
R7615:Spsb1 UTSW 4 149,906,900 (GRCm38) missense probably benign
R7944:Spsb1 UTSW 4 149,906,446 (GRCm38) missense probably benign 0.00
R7974:Spsb1 UTSW 4 149,907,109 (GRCm38) start codon destroyed probably damaging 1.00
R8945:Spsb1 UTSW 4 149,907,018 (GRCm38) missense possibly damaging 0.90
R9461:Spsb1 UTSW 4 149,906,450 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCCCAGGATTCATGGTTATTTC -3'
(R):5'- GGATCAAGACTGTGGACATGC -3'

Sequencing Primer
(F):5'- TTGTGTACCCAACGGAGTGC -3'
(R):5'- ACTGTGGACATGCGGGAC -3'
Posted On 2014-06-23