Incidental Mutation 'R8720:Sap30l'
ID 670086
Institutional Source Beutler Lab
Gene Symbol Sap30l
Ensembl Gene ENSMUSG00000020519
Gene Name SAP30-like
Synonyms 2310079P12Rik, L55
MMRRC Submission 068571-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R8720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 57692463-57701043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57698875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 116 (N116I)
Ref Sequence ENSEMBL: ENSMUSP00000020826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020826]
AlphaFold Q5SQF8
Predicted Effect probably damaging
Transcript: ENSMUST00000020826
AA Change: N116I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519
AA Change: N116I

DomainStartEndE-ValueType
low complexity region 14 22 N/A INTRINSIC
Pfam:zf-SAP30 23 94 4.5e-40 PFAM
Pfam:SAP30_Sin3_bdg 113 165 7.5e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 T C 11: 61,104,305 (GRCm39) V64A probably benign Het
Anln T C 9: 22,284,573 (GRCm39) H379R probably benign Het
Asb2 A G 12: 103,291,680 (GRCm39) Y416H probably damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,629,465 (GRCm39) probably benign Het
Chsy1 T A 7: 65,821,088 (GRCm39) M441K possibly damaging Het
Cmas A G 6: 142,716,929 (GRCm39) K274E probably damaging Het
Cmip A G 8: 118,138,010 (GRCm39) Y75C probably damaging Het
Col17a1 T A 19: 47,637,531 (GRCm39) probably benign Het
Col3a1 A G 1: 45,386,893 (GRCm39) Y1368C unknown Het
Cracdl A G 1: 37,652,522 (GRCm39) F1095S possibly damaging Het
Cspg4 C T 9: 56,794,797 (GRCm39) T844I probably benign Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Ect2 A T 3: 27,169,647 (GRCm39) N766K probably damaging Het
Fanci C A 7: 79,089,425 (GRCm39) Q954K possibly damaging Het
Gm30083 A G 14: 33,736,895 (GRCm39) S21P probably benign Het
Gulo C T 14: 66,225,074 (GRCm39) E422K probably benign Het
Helq A G 5: 100,914,561 (GRCm39) V977A probably damaging Het
Herc1 A G 9: 66,389,105 (GRCm39) D3874G probably benign Het
Hsf4 G T 8: 105,996,605 (GRCm39) D34Y probably damaging Het
Il18 G A 9: 50,476,684 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,508,599 (GRCm39) E209V probably damaging Het
Ino80 A T 2: 119,232,868 (GRCm39) L1150Q probably damaging Het
Kif16b A G 2: 142,691,792 (GRCm39) F231L probably damaging Het
Krtap19-4 A G 16: 88,681,846 (GRCm39) Y37H unknown Het
Lama4 A T 10: 38,971,079 (GRCm39) D1548V probably damaging Het
Lrig2 C T 3: 104,418,998 (GRCm39) A4T probably damaging Het
Lrp4 A T 2: 91,324,459 (GRCm39) I1265F probably damaging Het
Muc16 T A 9: 18,552,896 (GRCm39) T4466S probably benign Het
Myo1e A G 9: 70,204,570 (GRCm39) I57V possibly damaging Het
Naip2 A T 13: 100,298,630 (GRCm39) Y469N probably benign Het
Nav1 G A 1: 135,388,464 (GRCm39) R1065C unknown Het
Nps C T 7: 134,874,045 (GRCm39) R72C probably damaging Het
Nup210l G A 3: 90,117,681 (GRCm39) V1796I probably benign Het
Pdzd7 T C 19: 45,024,667 (GRCm39) K451E probably benign Het
Pigv A T 4: 133,392,968 (GRCm39) D67E probably damaging Het
Pik3cg A T 12: 32,243,688 (GRCm39) F928I probably benign Het
Pkn3 A G 2: 29,975,196 (GRCm39) N486D probably benign Het
Ppp2r3d A G 9: 101,089,084 (GRCm39) L413P probably damaging Het
Rbm45 G T 2: 76,210,711 (GRCm39) R414L probably damaging Het
Slc17a5 A T 9: 78,485,945 (GRCm39) F47I probably damaging Het
Slco1a7 A T 6: 141,668,852 (GRCm39) S527T probably benign Het
Srbd1 A T 17: 86,358,571 (GRCm39) D659E probably damaging Het
Sycp3 A G 10: 88,298,394 (GRCm39) Q40R probably benign Het
Trip13 T C 13: 74,063,590 (GRCm39) S374G probably benign Het
Ubr4 T C 4: 139,208,149 (GRCm39) probably null Het
Ush2a G A 1: 188,090,715 (GRCm39) V449I probably benign Het
Vmn1r211 A T 13: 23,036,031 (GRCm39) V212D probably damaging Het
Vmn2r111 T A 17: 22,792,194 (GRCm39) I21F possibly damaging Het
Zmiz2 A T 11: 6,349,904 (GRCm39) I491F possibly damaging Het
Other mutations in Sap30l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Sap30l APN 11 57,700,777 (GRCm39) nonsense probably null
IGL03156:Sap30l APN 11 57,696,994 (GRCm39) critical splice donor site probably null
R1771:Sap30l UTSW 11 57,696,925 (GRCm39) missense probably damaging 1.00
R1808:Sap30l UTSW 11 57,700,771 (GRCm39) missense probably benign 0.00
R4863:Sap30l UTSW 11 57,696,880 (GRCm39) missense probably damaging 1.00
R7594:Sap30l UTSW 11 57,700,947 (GRCm39) splice site probably null
R7619:Sap30l UTSW 11 57,698,887 (GRCm39) missense probably damaging 1.00
R7675:Sap30l UTSW 11 57,700,867 (GRCm39) missense probably damaging 1.00
R9708:Sap30l UTSW 11 57,696,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTGGTGTCCTTTAGCACTG -3'
(R):5'- GGAACTAGGGCTTTCTCTGC -3'

Sequencing Primer
(F):5'- AGTCTGCTCACTAGAGGGC -3'
(R):5'- CCCATGTGCAGAGCTCTTGATG -3'
Posted On 2021-04-30