Incidental Mutation 'R4385:Sp140l1'
ID 326142
Institutional Source Beutler Lab
Gene Symbol Sp140l1
Ensembl Gene ENSMUSG00000089844
Gene Name Sp140 nuclear body protein like 1
Synonyms A530032D15Rik, LOC381287
MMRRC Submission 041124-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4385 (G1)
Quality Score 155
Status Not validated
Chromosome 1
Chromosomal Location 85065860-85088016 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 85087057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160792] [ENSMUST00000161267] [ENSMUST00000161675] [ENSMUST00000161724] [ENSMUST00000162421]
AlphaFold E9Q422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably null
Transcript: ENSMUST00000160792
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161150
Predicted Effect probably benign
Transcript: ENSMUST00000161267
SMART Domains Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 119 1.8e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161675
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844

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

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162353
Predicted Effect probably benign
Transcript: ENSMUST00000162421
SMART Domains Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 40 135 2.2e-39 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,259,065 (GRCm39) I426N probably damaging Het
Abcc6 C T 7: 45,644,752 (GRCm39) V808I possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Apbb1 A G 7: 105,216,483 (GRCm39) S140P probably benign Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cdc27 T C 11: 104,425,640 (GRCm39) R59G probably benign Het
Cfap43 T C 19: 47,785,568 (GRCm39) R441G probably benign Het
Chsy3 A G 18: 59,309,424 (GRCm39) I226V probably benign Het
Chsy3 A T 18: 59,312,546 (GRCm39) T340S possibly damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Col5a1 A C 2: 27,914,791 (GRCm39) M136L probably damaging Het
Coro2a A T 4: 46,541,961 (GRCm39) I387N possibly damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cyfip2 C T 11: 46,133,230 (GRCm39) M823I probably benign Het
Dcbld2 A G 16: 58,283,429 (GRCm39) K555E probably damaging Het
Dpep3 A G 8: 106,704,818 (GRCm39) M164T probably damaging Het
Flg C A 3: 93,200,316 (GRCm39) probably benign Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Ift172 T C 5: 31,444,311 (GRCm39) D37G probably damaging Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk1 A T 7: 43,877,993 (GRCm39) D83V probably benign Het
Klk1b9 T C 7: 43,443,699 (GRCm39) V71A probably benign Het
Loxhd1 A G 18: 77,460,607 (GRCm39) K806R probably damaging Het
Metap1 T C 3: 138,180,824 (GRCm39) E119G possibly damaging Het
Nbea T C 3: 55,908,059 (GRCm39) H1351R possibly damaging Het
Nim1k T C 13: 120,174,162 (GRCm39) D244G probably damaging Het
Npas1 C T 7: 16,193,110 (GRCm39) probably null Het
Pcdh15 A G 10: 74,386,322 (GRCm39) D1136G probably damaging Het
Pde6b A G 5: 108,575,508 (GRCm39) I657V probably benign Het
Pi4ka A G 16: 17,204,129 (GRCm39) V55A probably benign Het
Plxnb2 T C 15: 89,044,826 (GRCm39) N1173S probably damaging Het
Pramel23 C T 4: 143,424,584 (GRCm39) probably null Het
Ptpn13 T C 5: 103,681,273 (GRCm39) probably null Het
Ptprb A G 10: 116,182,772 (GRCm39) S1483G probably benign Het
Rbm48 G A 5: 3,640,300 (GRCm39) P360S probably damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Resf1 T C 6: 149,227,706 (GRCm39) S251P possibly damaging Het
Rfpl4 A G 7: 5,113,669 (GRCm39) S165P possibly damaging Het
Scn9a A T 2: 66,314,900 (GRCm39) L1595Q probably damaging Het
Scp2 A T 4: 107,928,547 (GRCm39) V381D probably damaging Het
Sec24c G A 14: 20,740,841 (GRCm39) V620M probably damaging Het
Slc30a9 T C 5: 67,473,110 (GRCm39) Y65H probably damaging Het
Sorcs1 A G 19: 50,178,599 (GRCm39) I841T probably benign Het
Spag7 C T 11: 70,560,029 (GRCm39) A27T probably damaging Het
St6galnac6 A G 2: 32,505,036 (GRCm39) I181V possibly damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Ugt3a1 C T 15: 9,306,565 (GRCm39) S238F probably benign Het
Usp9y G A Y: 1,304,756 (GRCm39) L2363F probably damaging Het
Vmn1r34 T A 6: 66,614,123 (GRCm39) H205L probably damaging Het
Vps50 C A 6: 3,516,694 (GRCm39) Q59K probably benign Het
Zeb2 T A 2: 44,913,074 (GRCm39) D39V probably damaging Het
Zfp146 G A 7: 29,861,847 (GRCm39) T65I probably benign Het
Zfp36 T C 7: 28,077,116 (GRCm39) D264G probably benign 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
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
R5173:Sp140l1 UTSW 1 85,078,288 (GRCm39) nonsense probably null
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'- GATTCAATGCTGTCACCTGGC -3'
(R):5'- TTCCTTAGAAGGCAGCAGGC -3'

Sequencing Primer
(F):5'- GGCCCTTGTTACCTCGGAATC -3'
(R):5'- AGGCGTCCCAGGTTTCTG -3'
Posted On 2015-07-06