Incidental Mutation 'R6368:Spsb4'
ID512798
Institutional Source Beutler Lab
Gene Symbol Spsb4
Ensembl Gene ENSMUSG00000046997
Gene NamesplA/ryanodine receptor domain and SOCS box containing 4
SynonymsD030068E18Rik, Ssb4
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R6368 (G1)
Quality Score181.009
Status Not validated
Chromosome9
Chromosomal Location96943482-97018843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 96944645 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 252 (Q252K)
Ref Sequence ENSEMBL: ENSMUSP00000057849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055433]
Predicted Effect probably benign
Transcript: ENSMUST00000055433
AA Change: Q252K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997
AA Change: Q252K

DomainStartEndE-ValueType
SPRY 95 230 5.67e-19 SMART
SOCS_box 234 273 3.41e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162307
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,990,132 E272D possibly damaging Het
Abi2 A G 1: 60,453,651 T158A possibly damaging Het
Acacb T C 5: 114,216,823 S1221P probably damaging Het
Agbl1 A G 7: 76,419,830 D370G probably benign Het
Apeh A G 9: 108,087,243 I487T probably damaging Het
Arid1b C A 17: 5,332,533 N1297K possibly damaging Het
Ascc3 G A 10: 50,699,985 G779S probably damaging Het
Atp7b A C 8: 22,020,755 probably null Het
Bsn C T 9: 108,111,314 probably benign Het
Caps2 C T 10: 112,194,968 Q268* probably null Het
Cnfn C T 7: 25,367,961 probably null Het
Cr2 A G 1: 195,168,472 S229P probably damaging Het
Cubn T C 2: 13,430,995 Y1050C probably damaging Het
Cubn T C 2: 13,476,123 E307G probably damaging Het
Cyb5r3 A C 15: 83,160,124 Y182D possibly damaging Het
Dclre1a A T 19: 56,546,791 H120Q probably benign Het
Ddx6 T C 9: 44,635,776 I457T probably damaging Het
E2f1 A T 2: 154,564,476 H93Q possibly damaging Het
Fam186a T C 15: 99,943,317 K1682R possibly damaging Het
Farsb A G 1: 78,466,965 probably null Het
Flii A T 11: 60,721,136 L347Q probably damaging Het
Galntl6 T G 8: 58,911,441 T12P probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm21680 T C 5: 25,969,036 N190S probably damaging Het
Ifit1bl2 T C 19: 34,619,125 S364G probably benign Het
Kdm2a A G 19: 4,350,317 I234T probably damaging Het
Kdm5b T C 1: 134,599,207 C356R probably damaging Het
Kel A T 6: 41,688,851 C174* probably null Het
Krt16 T A 11: 100,246,676 D401V probably damaging Het
Ltb4r1 A C 14: 55,767,743 I168L probably benign Het
Luzp1 T A 4: 136,541,780 M438K probably benign Het
Mtf1 C T 4: 124,824,352 T281M probably damaging Het
Myo9a T A 9: 59,924,948 S2587T probably benign Het
Olfr1311 A T 2: 112,021,551 I101N probably damaging Het
Olfr1377 T A 11: 50,984,786 F28L probably benign Het
Olfr532 G T 7: 140,419,667 Y35* probably null Het
Olfr860 T C 9: 19,846,409 D70G probably damaging Het
Pcm1 T A 8: 41,293,544 F1221Y probably benign Het
Pnldc1 A T 17: 12,905,864 N90K probably damaging Het
Prickle2 A T 6: 92,420,237 L169Q probably damaging Het
Ralgps2 A T 1: 156,884,574 L147I probably damaging Het
Rfx3 A T 19: 27,768,609 L674Q possibly damaging Het
Rpl3 C A 15: 80,082,544 L14F probably damaging Het
Rrbp1 C T 2: 143,989,555 G231R probably damaging Het
Sema3d C T 5: 12,571,013 L529F probably damaging Het
Slain1 A T 14: 103,656,955 T193S probably benign Het
Slc2a6 G T 2: 27,024,587 Q256K possibly damaging Het
Slk A G 19: 47,620,183 E525G possibly damaging Het
Taf1b A G 12: 24,558,257 T552A possibly damaging Het
Tmprss15 T C 16: 79,006,057 probably null Het
Tph2 T C 10: 115,179,326 H177R probably damaging Het
Ttll1 A G 15: 83,489,617 S332P probably damaging Het
Twf2 T G 9: 106,212,833 N128K probably benign Het
Vegfc T A 8: 54,181,230 C315S probably damaging Het
Vmn2r111 T A 17: 22,571,908 K136N probably benign Het
Wnk2 T C 13: 49,061,338 E496G probably damaging Het
Zfp148 C A 16: 33,497,198 Q705K probably damaging Het
Zw10 C T 9: 49,073,235 A539V probably damaging Het
Other mutations in Spsb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Spsb4 APN 9 96944593 missense probably benign 0.01
IGL01582:Spsb4 APN 9 96996090 missense probably damaging 1.00
R0320:Spsb4 UTSW 9 96996108 missense probably damaging 1.00
R1664:Spsb4 UTSW 9 96996213 missense possibly damaging 0.88
R2495:Spsb4 UTSW 9 96995787 missense probably damaging 1.00
R2872:Spsb4 UTSW 9 96996018 missense probably damaging 1.00
R2872:Spsb4 UTSW 9 96996018 missense probably damaging 1.00
R2874:Spsb4 UTSW 9 96996018 missense probably damaging 1.00
R3758:Spsb4 UTSW 9 96995871 missense probably damaging 1.00
R4604:Spsb4 UTSW 9 96995878 missense probably benign 0.00
R4678:Spsb4 UTSW 9 96995691 missense probably damaging 0.98
R5532:Spsb4 UTSW 9 96995574 critical splice donor site probably null
R6157:Spsb4 UTSW 9 96996107 missense probably damaging 1.00
R7787:Spsb4 UTSW 9 96995590 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTACACTCTGGTTCACGAGG -3'
(R):5'- AGTGCCTCTTACTGCAAGC -3'

Sequencing Primer
(F):5'- TGGTTCACGAGGTGGCCTC -3'
(R):5'- CAGGGATGGCTCTTCAGTAGCAG -3'
Posted On2018-04-27