Incidental Mutation 'R8007:Smarce1'
ID 616695
Institutional Source Beutler Lab
Gene Symbol Smarce1
Ensembl Gene ENSMUSG00000037935
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Synonyms 9030408N19Rik, BAF57, 5830412H02Rik, 2810417B20Rik
MMRRC Submission 046047-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8007 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 99099873-99121843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 99115876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 48 (N48K)
Ref Sequence ENSEMBL: ENSMUSP00000099422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103133]
AlphaFold O54941
Predicted Effect possibly damaging
Transcript: ENSMUST00000103133
AA Change: N48K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099422
Gene: ENSMUSG00000037935
AA Change: N48K

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
HMG 65 135 8.37e-15 SMART
low complexity region 149 163 N/A INTRINSIC
Blast:HMG 165 205 1e-20 BLAST
coiled coil region 222 319 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,647,845 (GRCm39) probably benign Het
A430033K04Rik T C 5: 138,644,901 (GRCm39) I262T probably benign Het
Acacb A G 5: 114,356,935 (GRCm39) R1289G probably damaging Het
Adgre4 A T 17: 56,121,233 (GRCm39) H433L probably damaging Het
Adgrv1 A G 13: 81,431,585 (GRCm39) F5948L probably benign Het
Adtrp A T 13: 41,969,707 (GRCm39) D97E probably damaging Het
Anapc5 T C 5: 122,929,963 (GRCm39) T543A probably benign Het
Ank2 G C 3: 126,730,096 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,289,405 (GRCm39) A813V probably benign Het
Cc2d2a T A 5: 43,863,442 (GRCm39) Y684N possibly damaging Het
Cenpf G A 1: 189,379,144 (GRCm39) P35L Het
Chtf18 A G 17: 25,944,508 (GRCm39) F281L probably damaging Het
Clstn1 T C 4: 149,716,305 (GRCm39) V257A probably damaging Het
Cnmd A T 14: 79,875,406 (GRCm39) V338E probably damaging Het
Col6a3 A C 1: 90,705,179 (GRCm39) F2848V unknown Het
Corin T C 5: 72,473,446 (GRCm39) S888G probably damaging Het
Ctss A T 3: 95,457,465 (GRCm39) S309C probably null Het
Dmxl2 G A 9: 54,290,975 (GRCm39) Q2492* probably null Het
Exoc7 C T 11: 116,197,465 (GRCm39) R12Q possibly damaging Het
F12 A G 13: 55,566,265 (GRCm39) I509T probably damaging Het
F13b A G 1: 139,434,680 (GRCm39) K149E probably benign Het
Fasn A G 11: 120,700,353 (GRCm39) I2159T probably benign Het
Fgfr2 A T 7: 129,765,719 (GRCm39) Y831* probably null Het
Foxp1 A T 6: 98,918,595 (GRCm39) S514R unknown Het
Gm11569 A G 11: 99,689,688 (GRCm39) S4P unknown Het
Gria4 T C 9: 4,503,740 (GRCm39) probably benign Het
Hnrnpul2 T A 19: 8,798,179 (GRCm39) probably null Het
Ibtk A T 9: 85,572,770 (GRCm39) D1257E probably benign Het
Ip6k2 T C 9: 108,682,955 (GRCm39) V355A probably benign Het
Kcnd2 G A 6: 21,217,073 (GRCm39) R259H probably damaging Het
Kcnj2 A C 11: 110,963,884 (GRCm39) E425D probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgi2 C A 5: 52,723,375 (GRCm39) A25S probably benign Het
Lrp2 T C 2: 69,336,849 (GRCm39) T1308A probably benign Het
Ly6g2 A G 15: 75,088,552 (GRCm39) T7A probably benign Het
Matn2 A T 15: 34,426,315 (GRCm39) N609I probably benign Het
Mocs2 T A 13: 114,957,409 (GRCm39) S9T possibly damaging Het
Nebl T A 2: 17,375,300 (GRCm39) I102F Het
Nudt19 A G 7: 35,255,045 (GRCm39) V62A probably benign Het
Or10u4 T A 10: 129,801,744 (GRCm39) D269V possibly damaging Het
Or12k8 T A 2: 36,974,855 (GRCm39) R302W probably damaging Het
Or4a68 C T 2: 89,270,684 (GRCm39) Het
Or4k42 A T 2: 111,320,068 (GRCm39) V145E probably damaging Het
Pacrg A G 17: 11,058,919 (GRCm39) probably benign Het
Pappa2 A G 1: 158,609,874 (GRCm39) I1529T probably damaging Het
Pcdhga7 A T 18: 37,849,946 (GRCm39) H651L probably benign Het
Plch2 A G 4: 155,087,288 (GRCm39) L321P probably damaging Het
Ppargc1b A T 18: 61,443,565 (GRCm39) S549T possibly damaging Het
Rtel1 T A 2: 180,976,767 (GRCm39) N254K probably damaging Het
Rtl1 T C 12: 109,558,060 (GRCm39) N1260D possibly damaging Het
Samd7 T A 3: 30,812,531 (GRCm39) W324R probably damaging Het
Serpinb9e A G 13: 33,435,605 (GRCm39) I13V probably benign Het
Skint10 A G 4: 112,568,865 (GRCm39) L284S possibly damaging Het
Slc25a38 T A 9: 119,951,208 (GRCm39) I247K possibly damaging Het
Stmn4 T G 14: 66,593,032 (GRCm39) probably benign Het
Stt3a G C 9: 36,653,065 (GRCm39) T539R probably damaging Het
Tab1 G A 15: 80,042,969 (GRCm39) V388I possibly damaging Het
Tcf12 G C 9: 71,841,905 (GRCm39) probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trp53inp1 T C 4: 11,164,525 (GRCm39) F23S probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Yae1d1 G A 13: 18,164,329 (GRCm39) S96L probably damaging Het
Zfp142 T C 1: 74,610,655 (GRCm39) I1047V probably benign Het
Other mutations in Smarce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Smarce1 APN 11 99,101,013 (GRCm39) missense possibly damaging 0.69
IGL01477:Smarce1 APN 11 99,101,013 (GRCm39) missense possibly damaging 0.69
IGL02256:Smarce1 APN 11 99,110,206 (GRCm39) missense possibly damaging 0.63
R0524:Smarce1 UTSW 11 99,104,888 (GRCm39) missense probably damaging 1.00
R4721:Smarce1 UTSW 11 99,111,543 (GRCm39) missense probably benign 0.01
R4953:Smarce1 UTSW 11 99,105,977 (GRCm39) missense probably benign 0.45
R5002:Smarce1 UTSW 11 99,115,889 (GRCm39) missense probably damaging 0.99
R7605:Smarce1 UTSW 11 99,119,118 (GRCm39) missense probably benign
R8670:Smarce1 UTSW 11 99,101,098 (GRCm39) missense possibly damaging 0.61
R8977:Smarce1 UTSW 11 99,110,511 (GRCm39) missense possibly damaging 0.56
R9519:Smarce1 UTSW 11 99,104,933 (GRCm39) missense probably benign 0.01
Z1176:Smarce1 UTSW 11 99,100,921 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTCCAGGTACATATCCAGACTGC -3'
(R):5'- CATTGCTTGTTTAAACTCAGGTTGC -3'

Sequencing Primer
(F):5'- AAAGGACCTAGCTCTGGAG -3'
(R):5'- CTTGTTTAAACTCAGGTTGCTTTTG -3'
Posted On 2020-01-23