Incidental Mutation 'R7315:Sbp'
ID567917
Institutional Source Beutler Lab
Gene Symbol Sbp
Ensembl Gene ENSMUSG00000024128
Gene Namespermine binding protein
Synonymsp25
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R7315 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location23941672-23945607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23945306 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 154 (A154V)
Ref Sequence ENSEMBL: ENSMUSP00000024940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024940] [ENSMUST00000181985] [ENSMUST00000182519] [ENSMUST00000182868] [ENSMUST00000183017] [ENSMUST00000183155] [ENSMUST00000183252]
Predicted Effect probably benign
Transcript: ENSMUST00000024940
AA Change: A154V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128
AA Change: A154V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Jacalin 26 151 2.32e-15 SMART
low complexity region 161 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181985
AA Change: A154V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128
AA Change: A154V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Jacalin 26 151 2.32e-15 SMART
low complexity region 161 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182519
SMART Domains Protein: ENSMUSP00000138338
Gene: ENSMUSG00000024128

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Blast:Jacalin 26 87 3e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000182868
AA Change: A181V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138491
Gene: ENSMUSG00000024128
AA Change: A181V

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Jacalin 53 178 2.32e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183017
Predicted Effect probably benign
Transcript: ENSMUST00000183155
AA Change: A154V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128
AA Change: A154V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Jacalin 26 151 2.32e-15 SMART
low complexity region 161 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183252
AA Change: A154V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128
AA Change: A154V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Jacalin 26 151 2.32e-15 SMART
low complexity region 161 198 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A C 7: 120,294,118 I1264L probably benign Het
Abcg8 C A 17: 84,696,714 D484E probably damaging Het
Abhd13 T A 8: 9,987,970 L189H probably damaging Het
Acox2 T C 14: 8,256,139 D60G probably damaging Het
Acpp A G 9: 104,316,224 probably null Het
Agpat4 C T 17: 12,210,298 R146C probably damaging Het
Antxrl T C 14: 34,071,547 S411P unknown Het
B4galt5 A G 2: 167,301,376 V376A probably damaging Het
BB287469 A G 12: 87,819,703 E128G unknown Het
Camk1d T C 2: 5,339,230 Y198C probably damaging Het
Cd1d1 C T 3: 86,998,113 R191H possibly damaging Het
Cd93 A G 2: 148,442,541 V295A probably damaging Het
Cdc27 G A 11: 104,515,444 T615I possibly damaging Het
Cfap74 T C 4: 155,463,019 Y1221H unknown Het
Col24a1 G A 3: 145,431,870 S896N possibly damaging Het
Cst7 C A 2: 150,570,583 P22Q probably benign Het
Dnah6 C T 6: 73,084,760 A2781T probably damaging Het
Dscaml1 G A 9: 45,745,125 A1588T probably benign Het
Dsg2 A T 18: 20,579,160 I118F probably damaging Het
Eme2 G A 17: 24,894,866 R62W probably damaging Het
Epha3 A T 16: 63,552,609 D910E probably benign Het
Ext1 T C 15: 53,073,387 D654G probably damaging Het
Fam46b C T 4: 133,487,084 T422I probably damaging Het
Fnip2 A G 3: 79,506,205 probably null Het
Gon4l T A 3: 88,895,179 H1032Q probably benign Het
Ispd A G 12: 36,390,374 T94A probably benign Het
Kitl G A 10: 100,016,112 R31H unknown Het
Lcp2 G A 11: 34,069,906 probably null Het
Lrp2 T C 2: 69,491,822 H1921R probably damaging Het
Lvrn A G 18: 46,876,984 T400A probably benign Het
Mak16 G A 8: 31,164,738 R143* probably null Het
Mettl23 A G 11: 116,849,102 I159V probably benign Het
Mr1 T C 1: 155,129,290 N335D probably benign Het
Muc2 T C 7: 141,690,402 C12R probably damaging Het
Myom1 T C 17: 71,080,897 probably null Het
Nav2 A G 7: 49,548,289 N33S possibly damaging Het
Ninl A G 2: 150,950,050 V851A probably benign Het
Nmt1 A G 11: 103,060,183 N367D probably benign Het
Noc2l T G 4: 156,241,360 S354R probably damaging Het
Olfr104-ps G T 17: 37,362,660 C181F probably damaging Het
Olfr1302 T C 2: 111,780,659 V113A probably damaging Het
Olfr151 T C 9: 37,730,576 M136V probably benign Het
Olfr198 A G 16: 59,202,133 F98L probably benign Het
Olfr293 T C 7: 86,664,237 S192P probably damaging Het
Olfr70 T A 4: 43,696,961 I71F probably damaging Het
Olfr860 G T 9: 19,845,835 S261R probably damaging Het
Olfr877 A T 9: 37,855,247 Y143F probably benign Het
Opn1sw A T 6: 29,379,363 I214N probably damaging Het
Papss2 T C 19: 32,639,225 V217A possibly damaging Het
Pes1 A G 11: 3,976,085 I291M probably benign Het
Pqlc2 G A 4: 139,301,870 T101M probably damaging Het
Ptprb T A 10: 116,362,379 I1660N possibly damaging Het
Rapgef1 C A 2: 29,734,492 T1030K probably damaging Het
Rassf8 A G 6: 145,815,751 M268V probably benign Het
Rbl2 A T 8: 91,076,012 T154S probably damaging Het
Rgs1 A G 1: 144,248,899 probably null Het
Rpgrip1 C T 14: 52,121,001 T188I not run Het
Rrp1b T A 17: 32,058,571 F608L probably benign Het
Scara3 C T 14: 65,931,440 E243K probably damaging Het
Serpinb6b A T 13: 32,972,257 D110V probably benign Het
Skiv2l T A 17: 34,841,169 D875V probably benign Het
Slc2a4 G C 11: 69,946,433 T59R probably damaging Het
Slc4a1 A G 11: 102,356,484 S462P probably damaging Het
Snx33 C T 9: 56,925,867 R306H probably damaging Het
Srf T C 17: 46,551,794 probably null Het
Steap3 A G 1: 120,227,912 V439A probably benign Het
Syt10 C T 15: 89,814,338 D268N probably damaging Het
Terf2 T C 8: 107,081,217 N242S probably benign Het
Tex15 A G 8: 33,581,516 T2364A probably benign Het
Tgfbr2 A T 9: 116,109,738 H365Q possibly damaging Het
Tnrc6c T G 11: 117,723,528 N837K probably benign Het
Trim67 T A 8: 124,794,330 S144T probably benign Het
Zc3hav1l T G 6: 38,295,147 D229A possibly damaging Het
Zmym4 A T 4: 126,882,592 V1184E probably benign Het
Other mutations in Sbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Sbp APN 17 23945348 utr 3 prime probably benign
IGL02035:Sbp APN 17 23942612 missense possibly damaging 0.73
FR4449:Sbp UTSW 17 23945364 small insertion probably benign
FR4737:Sbp UTSW 17 23945382 small insertion probably benign
FR4737:Sbp UTSW 17 23945389 small insertion probably benign
R0457:Sbp UTSW 17 23945312 missense probably benign 0.04
R1083:Sbp UTSW 17 23942730 splice site probably benign
R1544:Sbp UTSW 17 23945069 missense probably benign 0.01
R2075:Sbp UTSW 17 23945158 splice site probably null
R3741:Sbp UTSW 17 23945582 utr 3 prime probably benign
R4513:Sbp UTSW 17 23945312 missense probably benign 0.04
R4774:Sbp UTSW 17 23945244 missense probably damaging 1.00
R5338:Sbp UTSW 17 23942422 start gained probably benign
R5576:Sbp UTSW 17 23945578 missense probably benign 0.05
R7894:Sbp UTSW 17 23942189 intron probably benign
RF003:Sbp UTSW 17 23945369 small insertion probably benign
RF010:Sbp UTSW 17 23945351 small insertion probably benign
RF011:Sbp UTSW 17 23945354 small insertion probably benign
RF024:Sbp UTSW 17 23945387 small insertion probably benign
RF037:Sbp UTSW 17 23945384 small insertion probably benign
RF037:Sbp UTSW 17 23945387 small insertion probably benign
RF038:Sbp UTSW 17 23945384 small insertion probably benign
RF042:Sbp UTSW 17 23945384 small insertion probably benign
RF044:Sbp UTSW 17 23945366 small insertion probably benign
RF048:Sbp UTSW 17 23945389 small insertion probably benign
RF054:Sbp UTSW 17 23945371 small insertion probably benign
RF056:Sbp UTSW 17 23945366 small insertion probably benign
RF059:Sbp UTSW 17 23945377 small insertion probably benign
RF061:Sbp UTSW 17 23945377 small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CAGTGATCTGCCTGACTTCC -3'
(R):5'- TGGTATATTACTTCCTCCAGTGGG -3'

Sequencing Primer
(F):5'- GTGATCTGCCTGACTTCCCTGAC -3'
(R):5'- GCTGCCATGTGGAGATGCAG -3'
Posted On2019-06-26