Incidental Mutation 'R5408:Sap18'
ID 426419
Institutional Source Beutler Lab
Gene Symbol Sap18
Ensembl Gene ENSMUSG00000021963
Gene Name Sin3-associated polypeptide 18
Synonyms Sinbp1, D11Ertd539e, Sap18a, C530046K05Rik, EMegR4
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5408 (G1)
Quality Score 224
Status Validated
Chromosome 14
Chromosomal Location 58035646-58042437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58039431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 78 (M78L)
Ref Sequence ENSEMBL: ENSMUSP00000121525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000111267] [ENSMUST00000111268] [ENSMUST00000111269] [ENSMUST00000128764] [ENSMUST00000143600]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022536
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111267
AA Change: M59L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106898
Gene: ENSMUSG00000021963
AA Change: M59L

DomainStartEndE-ValueType
Pfam:SAP18 1 76 3.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111268
AA Change: M59L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106899
Gene: ENSMUSG00000021963
AA Change: M59L

DomainStartEndE-ValueType
Pfam:SAP18 1 76 3.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111269
SMART Domains Protein: ENSMUSP00000106900
Gene: ENSMUSG00000021963

DomainStartEndE-ValueType
Pfam:SAP18 35 104 4.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128764
AA Change: M139L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120071
Gene: ENSMUSG00000021963
AA Change: M139L

DomainStartEndE-ValueType
Pfam:SAP18 38 156 2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131455
Predicted Effect probably benign
Transcript: ENSMUST00000143600
AA Change: M78L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121525
Gene: ENSMUSG00000021963
AA Change: M78L

DomainStartEndE-ValueType
Pfam:SAP18 1 95 2.6e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175043
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging Het
Other mutations in Sap18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2018:Sap18 UTSW 14 58,036,021 (GRCm39) missense probably damaging 1.00
R2118:Sap18 UTSW 14 58,036,011 (GRCm39) missense probably damaging 0.99
R2119:Sap18 UTSW 14 58,036,011 (GRCm39) missense probably damaging 0.99
R2121:Sap18 UTSW 14 58,036,011 (GRCm39) missense probably damaging 0.99
R2122:Sap18 UTSW 14 58,036,011 (GRCm39) missense probably damaging 0.99
R2124:Sap18 UTSW 14 58,036,011 (GRCm39) missense probably damaging 0.99
R3153:Sap18 UTSW 14 58,039,402 (GRCm39) missense probably benign
R4827:Sap18 UTSW 14 58,036,020 (GRCm39) missense probably damaging 1.00
R6287:Sap18 UTSW 14 58,035,771 (GRCm39) missense probably damaging 1.00
R6755:Sap18 UTSW 14 58,039,474 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATAATGCCTTTCGTGTCTGTC -3'
(R):5'- TTAATGGCAAAGTCCGGGG -3'

Sequencing Primer
(F):5'- TGACAGTAGTGGTAGCTATAGGC -3'
(R):5'- TCCGGGGGAAGAAAGGATTAAGTAAG -3'
Posted On 2016-09-01