Incidental Mutation 'R5173:Sp140l1'
ID 458186
Institutional Source Beutler Lab
Gene Symbol Sp140l1
Ensembl Gene ENSMUSG00000089844
Gene Name Sp140 nuclear body protein like 1
Synonyms A530032D15Rik, LOC381287
MMRRC Submission 042753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5173 (G1)
Quality Score 24
Status Validated
Chromosome 1
Chromosomal Location 85065860-85088016 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 85078288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 54 (R54*)
Ref Sequence ENSEMBL: ENSMUSP00000123750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]
AlphaFold E9Q422
Predicted Effect probably benign
Transcript: ENSMUST00000097669
SMART Domains Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631

DomainStartEndE-ValueType
low complexity region 111 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably null
Transcript: ENSMUST00000160792
AA Change: R54*
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
AA Change: R54*

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161675
AA Change: R54*
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844
AA Change: R54*

DomainStartEndE-ValueType
Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161724
AA Change: R54*
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844
AA Change: R54*

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 AC A 11: 9,632,032 (GRCm39) probably null Het
Abca6 A T 11: 110,082,546 (GRCm39) F1142L probably benign Het
Ap1g1 T A 8: 110,577,764 (GRCm39) probably null Het
Apob T C 12: 8,058,238 (GRCm39) V2207A probably benign Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Chd3 A G 11: 69,260,069 (GRCm39) probably benign Het
Coch C A 12: 51,643,290 (GRCm39) Y103* probably null Het
Cul3 A T 1: 80,259,133 (GRCm39) D382E possibly damaging Het
Cul5 T C 9: 53,554,034 (GRCm39) T291A probably benign Het
Dab1 T C 4: 104,545,645 (GRCm39) probably null Het
Dmtf1 A G 5: 9,190,356 (GRCm39) probably benign Het
Dpp4 T C 2: 62,217,474 (GRCm39) Y41C probably damaging Het
Eif2ak4 A G 2: 118,238,841 (GRCm39) I45M probably damaging Het
Epn3 T C 11: 94,386,923 (GRCm39) K149R probably damaging Het
Flnc A G 6: 29,455,537 (GRCm39) E2029G probably damaging Het
Gm5799 A G 14: 43,782,116 (GRCm39) N96S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grik5 T C 7: 24,762,319 (GRCm39) H224R possibly damaging Het
Lpar6 A T 14: 73,476,537 (GRCm39) E166V probably benign Het
Mical1 T C 10: 41,360,985 (GRCm39) L683P probably damaging Het
Mis18bp1 T C 12: 65,196,149 (GRCm39) I538M possibly damaging Het
Mobp A G 9: 119,997,311 (GRCm39) R77G possibly damaging Het
Muc21 G T 17: 35,931,633 (GRCm39) probably benign Het
Mylk A G 16: 34,797,383 (GRCm39) H1614R probably benign Het
Or2y16 T C 11: 49,334,713 (GRCm39) F12L probably benign Het
Or4p18 G A 2: 88,233,266 (GRCm39) T4I probably benign Het
Or7c19 T C 8: 85,957,205 (GRCm39) L27P probably damaging Het
Osbpl1a C T 18: 12,895,697 (GRCm39) V390I probably benign Het
Pcdha7 C A 18: 37,107,705 (GRCm39) D243E probably benign Het
Pi4ka A T 16: 17,168,770 (GRCm39) N653K possibly damaging Het
Plin5 T G 17: 56,422,548 (GRCm39) probably null Het
Plod1 A G 4: 148,000,758 (GRCm39) probably benign Het
Psd3 T C 8: 68,149,641 (GRCm39) K372E probably damaging Het
Psmd11 C T 11: 80,351,566 (GRCm39) T263I probably benign Het
Ptprt A T 2: 161,769,676 (GRCm39) N396K probably benign Het
Rab39 T C 9: 53,597,800 (GRCm39) E155G probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf220 T C 4: 117,146,471 (GRCm39) probably benign Het
Rnmt C T 18: 68,454,430 (GRCm39) probably benign Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Taar6 A G 10: 23,861,250 (GRCm39) Y99H probably damaging Het
Tas2r144 T A 6: 42,193,048 (GRCm39) F263I probably benign Het
Tex15 T A 8: 34,061,768 (GRCm39) N399K possibly damaging Het
Tlr9 T A 9: 106,103,151 (GRCm39) V814D possibly damaging Het
Tmem53 T A 4: 117,122,908 (GRCm39) probably benign Het
Ubap2l T C 3: 89,928,337 (GRCm39) I511V possibly damaging Het
Vmn2r60 T C 7: 41,844,935 (GRCm39) M766T probably damaging Het
Zfp462 T C 4: 55,011,115 (GRCm39) V1027A probably damaging Het
Other mutations in Sp140l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:Sp140l1 UTSW 1 85,087,072 (GRCm39) missense probably damaging 0.99
PIT4131001:Sp140l1 UTSW 1 85,077,341 (GRCm39) missense probably benign 0.01
PIT4142001:Sp140l1 UTSW 1 85,077,341 (GRCm39) missense probably benign 0.01
R0602:Sp140l1 UTSW 1 85,077,226 (GRCm39) missense probably benign 0.00
R0831:Sp140l1 UTSW 1 85,077,226 (GRCm39) missense probably benign 0.00
R1147:Sp140l1 UTSW 1 85,077,226 (GRCm39) missense probably benign 0.00
R1852:Sp140l1 UTSW 1 85,062,852 (GRCm39) unclassified probably benign
R4277:Sp140l1 UTSW 1 85,066,521 (GRCm39) intron probably benign
R4385:Sp140l1 UTSW 1 85,087,057 (GRCm39) critical splice donor site probably null
R4391:Sp140l1 UTSW 1 85,062,852 (GRCm39) unclassified probably benign
R4691:Sp140l1 UTSW 1 85,066,521 (GRCm39) intron probably benign
R4863:Sp140l1 UTSW 1 85,066,521 (GRCm39) intron probably benign
R5176:Sp140l1 UTSW 1 85,066,521 (GRCm39) intron probably benign
R8174:Sp140l1 UTSW 1 85,077,261 (GRCm39) missense probably damaging 1.00
R9606:Sp140l1 UTSW 1 85,075,344 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGCCTCAGTTACTGCAGAGG -3'
(R):5'- GGTAGCATCTTGTAAACCAGTATC -3'

Sequencing Primer
(F):5'- CCTCAGTTACTGCAGAGGTGAATG -3'
(R):5'- AACCAGTATCTACTTCTGCATGG -3'
Posted On 2017-02-24