Incidental Mutation 'R2846:Smarcb1'
ID 251603
Institutional Source Beutler Lab
Gene Symbol Smarcb1
Ensembl Gene ENSMUSG00000000902
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Synonyms Ini1, SNF5/INI1, Baf47, Snf5, integrase interactor 1
MMRRC Submission 040439-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2846 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75732603-75757448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75733375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 332 (R332L)
Ref Sequence ENSEMBL: ENSMUSP00000112463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000009236] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000217811]
AlphaFold Q9Z0H3
Predicted Effect probably damaging
Transcript: ENSMUST00000000925
AA Change: R341L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: R341L

DomainStartEndE-ValueType
Blast:HX 31 52 9e-8 BLAST
Pfam:SNF5 179 254 1.1e-27 PFAM
Pfam:SNF5 249 373 3.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000009236
SMART Domains Protein: ENSMUSP00000009236
Gene: ENSMUSG00000009092

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.4e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121304
AA Change: R332L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
AA Change: R332L

DomainStartEndE-ValueType
Blast:HX 31 52 9e-8 BLAST
Pfam:SNF5 169 364 1.7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133189
Predicted Effect probably benign
Transcript: ENSMUST00000140388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140408
Predicted Effect probably benign
Transcript: ENSMUST00000217811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219568
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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 a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdnf T A 2: 3,514,165 (GRCm39) M1K probably null Het
Ddx4 T A 13: 112,741,146 (GRCm39) K496M probably damaging Het
Dlg1 T C 16: 31,682,015 (GRCm39) S779P probably damaging Het
Dtna T A 18: 23,784,560 (GRCm39) probably null Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Gal3st2c A T 1: 93,924,122 (GRCm39) Q8L possibly damaging Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Irs4 C A X: 140,507,336 (GRCm39) G287W probably damaging Het
Kif21a T C 15: 90,818,667 (GRCm39) I1570V probably benign Het
Kremen1 GG GGGCG 11: 5,151,793 (GRCm39) probably benign Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mindy4 T C 6: 55,255,085 (GRCm39) V521A probably damaging Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pdgfrb C T 18: 61,197,088 (GRCm39) P175S probably benign Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Qpct A G 17: 79,378,171 (GRCm39) T114A probably damaging Het
Sec24d A G 3: 123,144,395 (GRCm39) D624G probably damaging Het
Shank2 A G 7: 143,623,792 (GRCm39) Y259C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
St18 T A 1: 6,915,811 (GRCm39) C819S probably damaging Het
Tas2r124 A G 6: 132,732,230 (GRCm39) N180D possibly damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Tmem204 G A 17: 25,299,307 (GRCm39) H71Y probably benign Het
Vmn1r212 A G 13: 23,068,262 (GRCm39) S24P probably damaging Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zmiz1 A G 14: 25,646,099 (GRCm39) S259G probably benign Het
Other mutations in Smarcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Smarcb1 APN 10 75,752,602 (GRCm39) splice site probably null
IGL02399:Smarcb1 APN 10 75,733,328 (GRCm39) missense probably damaging 1.00
IGL02457:Smarcb1 APN 10 75,757,205 (GRCm39) missense probably benign 0.01
R0505:Smarcb1 UTSW 10 75,732,900 (GRCm39) missense probably damaging 1.00
R1120:Smarcb1 UTSW 10 75,757,157 (GRCm39) missense probably benign
R3725:Smarcb1 UTSW 10 75,752,620 (GRCm39) missense probably benign 0.00
R5089:Smarcb1 UTSW 10 75,751,013 (GRCm39) missense probably benign 0.00
R5157:Smarcb1 UTSW 10 75,747,628 (GRCm39) intron probably benign
R5632:Smarcb1 UTSW 10 75,740,252 (GRCm39) nonsense probably null
R5662:Smarcb1 UTSW 10 75,740,404 (GRCm39) missense possibly damaging 0.95
R7472:Smarcb1 UTSW 10 75,733,373 (GRCm39) missense probably damaging 1.00
R8112:Smarcb1 UTSW 10 75,745,986 (GRCm39) critical splice donor site probably null
R9151:Smarcb1 UTSW 10 75,750,916 (GRCm39) missense probably benign 0.01
Z1176:Smarcb1 UTSW 10 75,741,911 (GRCm39) missense probably benign 0.00
Z1177:Smarcb1 UTSW 10 75,740,345 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACTGAAACTGCCTCTTGAAACTAG -3'
(R):5'- AGGCAGTGACAGAAGCCATC -3'

Sequencing Primer
(F):5'- CTAGGTTCCTGGGAAGAAGATACTCC -3'
(R):5'- ATCCGCACGGCTGCTAAGAG -3'
Posted On 2014-12-04