Incidental Mutation 'R0367:Sp140l2'
ID 261852
Institutional Source Beutler Lab
Gene Symbol Sp140l2
Ensembl Gene ENSMUSG00000052477
Gene Name Sp140 nuclear body protein like 2
Synonyms OTTMUSG00000029174, C130026I21Rik
MMRRC Submission 038573-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R0367 (G1)
Quality Score 36
Status Validated
Chromosome 1
Chromosomal Location 85219007-85260602 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 85247824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267]
AlphaFold Q8C898
Predicted Effect probably benign
Transcript: ENSMUST00000064341
SMART Domains Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 125 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093506
SMART Domains Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 24 122 1.1e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094774
Predicted Effect probably benign
Transcript: ENSMUST00000159582
SMART Domains Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 125 6.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159849
Predicted Effect probably benign
Transcript: ENSMUST00000161267
SMART Domains Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 119 1.8e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162923
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,961 (GRCm39) S12P probably damaging Het
Alx4 T A 2: 93,498,953 (GRCm39) D228E probably damaging Het
Antxr2 T C 5: 98,177,455 (GRCm39) E71G probably benign Het
Arhgap19 C A 19: 41,790,417 (GRCm39) G17V probably benign Het
C8a A C 4: 104,719,791 (GRCm39) probably null Het
Ccne2 T A 4: 11,201,426 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,425 (GRCm39) C317Y probably damaging Het
Cend1 C A 7: 141,007,808 (GRCm39) R4L probably damaging Het
Cfap44 T C 16: 44,253,839 (GRCm39) probably null Het
Cpt1c T C 7: 44,608,999 (GRCm39) N774S probably benign Het
Csmd1 C T 8: 15,967,270 (GRCm39) D3198N probably damaging Het
Dapk2 C T 9: 66,176,168 (GRCm39) S323F probably damaging Het
Ddx60 T G 8: 62,470,783 (GRCm39) I1425R possibly damaging Het
Edem1 T A 6: 108,823,713 (GRCm39) Y370N probably damaging Het
Elp5 A G 11: 69,865,967 (GRCm39) V103A probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fat1 A G 8: 45,477,350 (GRCm39) D2132G probably damaging Het
Fat2 A T 11: 55,182,919 (GRCm39) probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gp2 C T 7: 119,053,791 (GRCm39) D57N probably damaging Het
Gpr161 T C 1: 165,144,805 (GRCm39) probably benign Het
Gstcd G A 3: 132,692,138 (GRCm39) probably benign Het
Hipk3 A T 2: 104,261,594 (GRCm39) C980* probably null Het
Htr2a A T 14: 74,879,649 (GRCm39) I93L probably damaging Het
Itpr2 T G 6: 146,135,506 (GRCm39) K1775N probably damaging Het
Kcnt1 G A 2: 25,797,640 (GRCm39) V864I probably damaging Het
Kcnt2 A T 1: 140,278,963 (GRCm39) Y38F probably damaging Het
Limch1 G A 5: 67,015,297 (GRCm39) probably null Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Loxhd1 C T 18: 77,513,453 (GRCm39) probably benign Het
Lpin2 A T 17: 71,522,017 (GRCm39) E17V probably damaging Het
Lrrc34 A T 3: 30,684,142 (GRCm39) F342I probably benign Het
Lyzl6 A G 11: 103,527,578 (GRCm39) probably null Het
Map3k4 A C 17: 12,476,928 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad8 A G 11: 50,897,904 (GRCm39) Y35C probably damaging Het
Or4c52 A C 2: 89,846,116 (GRCm39) I281L probably damaging Het
Or7e168 G T 9: 19,719,839 (GRCm39) S75I probably damaging Het
Pcare G T 17: 72,057,471 (GRCm39) F735L probably damaging Het
Pdzrn4 A G 15: 92,655,538 (GRCm39) E477G possibly damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rims2 G T 15: 39,326,011 (GRCm39) probably null Het
Samd4b C T 7: 28,122,873 (GRCm39) A62T probably damaging Het
Scamp1 T C 13: 94,347,088 (GRCm39) N192S probably benign Het
Scnn1g T C 7: 121,345,802 (GRCm39) probably benign Het
Setd1a T G 7: 127,387,358 (GRCm39) probably benign Het
Setdb1 A G 3: 95,257,192 (GRCm39) probably benign Het
Slc2a7 T C 4: 150,250,823 (GRCm39) S415P probably benign Het
Strip2 A T 6: 29,937,650 (GRCm39) Y526F possibly damaging Het
Styxl2 T A 1: 165,928,332 (GRCm39) T427S probably benign Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Syt13 C A 2: 92,745,596 (GRCm39) A22E probably benign Het
Tm9sf2 T C 14: 122,392,780 (GRCm39) F432S probably benign Het
Vmn2r49 A T 7: 9,710,357 (GRCm39) W792R probably damaging Het
Zfp292 T C 4: 34,808,227 (GRCm39) S1606G probably benign Het
Zfp518a A T 19: 40,900,665 (GRCm39) H198L probably damaging Het
Other mutations in Sp140l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01876:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01880:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01883:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01886:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01888:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01893:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01898:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01906:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01908:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01909:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01916:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01918:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01920:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01923:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01928:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01933:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01945:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01949:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01951:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01952:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
PIT4131001:Sp140l2 UTSW 1 85,223,395 (GRCm39) intron probably benign
PIT4142001:Sp140l2 UTSW 1 85,223,395 (GRCm39) intron probably benign
R0067:Sp140l2 UTSW 1 85,247,773 (GRCm39) missense probably benign 0.00
R0389:Sp140l2 UTSW 1 85,247,773 (GRCm39) missense probably benign 0.00
R1284:Sp140l2 UTSW 1 85,247,776 (GRCm39) missense probably damaging 0.98
R1620:Sp140l2 UTSW 1 85,231,907 (GRCm39) intron probably benign
R1622:Sp140l2 UTSW 1 85,231,907 (GRCm39) intron probably benign
R1671:Sp140l2 UTSW 1 85,235,106 (GRCm39) critical splice donor site probably null
R3115:Sp140l2 UTSW 1 85,235,106 (GRCm39) intron probably benign
R4120:Sp140l2 UTSW 1 85,237,542 (GRCm39) missense possibly damaging 0.82
R4223:Sp140l2 UTSW 1 85,090,278 (GRCm39) missense probably damaging 0.98
R4947:Sp140l2 UTSW 1 85,090,203 (GRCm39) missense probably damaging 1.00
R4996:Sp140l2 UTSW 1 85,224,815 (GRCm39) missense probably benign 0.12
R5152:Sp140l2 UTSW 1 85,239,581 (GRCm39) missense probably benign 0.04
R6614:Sp140l2 UTSW 1 85,179,781 (GRCm39) splice site probably null
R7675:Sp140l2 UTSW 1 85,224,736 (GRCm39) missense probably benign
R7784:Sp140l2 UTSW 1 85,190,195 (GRCm39) splice site probably null
R7839:Sp140l2 UTSW 1 85,224,736 (GRCm39) missense probably benign
R8010:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R8034:Sp140l2 UTSW 1 85,231,881 (GRCm39) missense probably benign 0.35
R8382:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R8431:Sp140l2 UTSW 1 85,235,170 (GRCm39) missense probably benign 0.00
R8690:Sp140l2 UTSW 1 85,235,170 (GRCm39) missense probably benign 0.00
R8951:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R9150:Sp140l2 UTSW 1 85,091,359 (GRCm39) missense probably damaging 0.96
Z1176:Sp140l2 UTSW 1 85,091,244 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04