Incidental Mutation 'R4400:Spopl'
ID 326568
Institutional Source Beutler Lab
Gene Symbol Spopl
Ensembl Gene ENSMUSG00000026771
Gene Name speckle-type BTB/POZ protein-like
Synonyms E430033K04Rik, 4921517N04Rik
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4400 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 23396232-23462118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23407957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 241 (V241M)
Ref Sequence ENSEMBL: ENSMUSP00000114974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028110] [ENSMUST00000132484] [ENSMUST00000132827]
AlphaFold Q2M2N2
Predicted Effect probably benign
Transcript: ENSMUST00000028110
SMART Domains Protein: ENSMUSP00000141519
Gene: ENSMUSG00000026771

DomainStartEndE-ValueType
MATH 2 108 5.9e-17 SMART
low complexity region 141 152 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132484
AA Change: V241M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114974
Gene: ENSMUSG00000026771
AA Change: V241M

DomainStartEndE-ValueType
MATH 36 142 9.46e-15 SMART
BTB 200 297 5.99e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132827
SMART Domains Protein: ENSMUSP00000142047
Gene: ENSMUSG00000026771

DomainStartEndE-ValueType
MATH 36 142 5.9e-17 SMART
low complexity region 175 186 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195415
Meta Mutation Damage Score 0.2768 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no gross morphological and skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,438,810 (GRCm39) F189L probably damaging Het
Atp8a1 A T 5: 67,922,221 (GRCm39) Y372N probably benign Het
Bves T C 10: 45,245,389 (GRCm39) V354A probably benign Het
Cd79b A T 11: 106,202,836 (GRCm39) Y195* probably null Het
Cog6 A C 3: 52,920,362 (GRCm39) D131E probably benign Het
Elp3 C T 14: 65,785,539 (GRCm39) E421K possibly damaging Het
Fbxw28 A T 9: 109,157,378 (GRCm39) F237Y probably damaging Het
Fezf1 T C 6: 23,247,709 (GRCm39) N122S probably benign Het
Galnt2 A G 8: 125,051,042 (GRCm39) K157E probably damaging Het
Git2 T C 5: 114,871,970 (GRCm39) E141G possibly damaging Het
Gm26888 T C 11: 119,044,853 (GRCm39) silent Het
Gnrhr T C 5: 86,330,108 (GRCm39) probably null Het
Hoxd13 A T 2: 74,500,359 (GRCm39) D300V probably damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Hyal2 A G 9: 107,448,052 (GRCm39) N235S probably damaging Het
Itgam T G 7: 127,680,830 (GRCm39) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Matr3 A T 18: 35,716,969 (GRCm39) K591N possibly damaging Het
Mep1a T A 17: 43,785,897 (GRCm39) I731F possibly damaging Het
Mrtfa G A 15: 80,905,124 (GRCm39) Q103* probably null Het
Muc5b A G 7: 141,415,124 (GRCm39) D2690G possibly damaging Het
Nlrc5 A G 8: 95,220,981 (GRCm39) Q1140R probably benign Het
Or14c39 A G 7: 86,343,798 (GRCm39) I45V probably benign Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or6b6 A G 7: 106,571,209 (GRCm39) L114P probably damaging Het
Plcl1 T C 1: 55,754,736 (GRCm39) F1028L probably damaging Het
Plpp2 A G 10: 79,363,327 (GRCm39) V106A possibly damaging Het
Prpf8 A G 11: 75,381,528 (GRCm39) T255A possibly damaging Het
Shoc2 A G 19: 54,019,660 (GRCm39) I568V probably benign Het
Ssrp1 A T 2: 84,868,285 (GRCm39) D9V probably damaging Het
Strn3 A T 12: 51,694,883 (GRCm39) D293E possibly damaging Het
Tbx3 G T 5: 119,818,636 (GRCm39) D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm39) S416P possibly damaging Het
Trim60 G T 8: 65,453,864 (GRCm39) Y128* probably null Het
Tspoap1 T C 11: 87,666,429 (GRCm39) S947P probably damaging Het
Ttn A T 2: 76,612,739 (GRCm39) S17113R probably damaging Het
Ubqln1 T A 13: 58,341,202 (GRCm39) N183I probably damaging Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Ucp2 A G 7: 100,148,557 (GRCm39) *310W probably null Het
Wdr76 A G 2: 121,359,314 (GRCm39) M218V probably damaging Het
Zranb3 A C 1: 127,884,392 (GRCm39) L998R possibly damaging Het
Zxdc G A 6: 90,346,792 (GRCm39) G51E probably damaging Het
Other mutations in Spopl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Spopl APN 2 23,427,643 (GRCm39) missense possibly damaging 0.88
P4748:Spopl UTSW 2 23,401,455 (GRCm39) missense probably benign 0.01
PIT4453001:Spopl UTSW 2 23,435,461 (GRCm39) missense probably damaging 0.99
R0738:Spopl UTSW 2 23,427,533 (GRCm39) missense probably benign 0.04
R2358:Spopl UTSW 2 23,427,392 (GRCm39) missense probably damaging 1.00
R3711:Spopl UTSW 2 23,427,392 (GRCm39) missense probably damaging 1.00
R3712:Spopl UTSW 2 23,427,392 (GRCm39) missense probably damaging 1.00
R4097:Spopl UTSW 2 23,401,413 (GRCm39) missense probably benign 0.01
R4421:Spopl UTSW 2 23,407,957 (GRCm39) missense probably damaging 0.97
R4497:Spopl UTSW 2 23,407,957 (GRCm39) missense probably damaging 0.97
R4498:Spopl UTSW 2 23,407,957 (GRCm39) missense probably damaging 0.97
R4570:Spopl UTSW 2 23,427,497 (GRCm39) nonsense probably null
R4702:Spopl UTSW 2 23,405,309 (GRCm39) splice site probably null
R6919:Spopl UTSW 2 23,407,873 (GRCm39) missense probably benign 0.06
R7387:Spopl UTSW 2 23,427,521 (GRCm39) missense probably benign
R7921:Spopl UTSW 2 23,435,490 (GRCm39) missense probably benign
X0067:Spopl UTSW 2 23,434,879 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTTCCAATAAATAGCAAGTTGGAGG -3'
(R):5'- AGGTTCTCACTTAGTAGCTTCACTATC -3'

Sequencing Primer
(F):5'- AGCAAGTTGGAGGATTTTTGTTTTTG -3'
(R):5'- AGTAGCTTCACTATCTCTGTATGTAC -3'
Posted On 2015-07-07