Incidental Mutation 'R3725:Smarcb1'
ID 270740
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 040716-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3725 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75732603-75757448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75752620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 73 (K73N)
Ref Sequence ENSEMBL: ENSMUSP00000000925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000146555]
AlphaFold Q9Z0H3
Predicted Effect probably benign
Transcript: ENSMUST00000000925
AA Change: K73N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: K73N

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: ENSMUST00000121304
SMART Domains Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902

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: ENSMUST00000146555
Meta Mutation Damage Score 0.0730 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 96% (55/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,563,781 (GRCm39) R740S possibly damaging Het
Adamtsl3 A C 7: 82,261,612 (GRCm39) D1676A possibly damaging Het
Atp6v1a A G 16: 43,922,120 (GRCm39) probably benign Het
Camsap3 T C 8: 3,653,785 (GRCm39) L485P probably damaging Het
Ccdc81 A T 7: 89,515,838 (GRCm39) F614I possibly damaging Het
Cdk5rap2 C A 4: 70,153,674 (GRCm39) K1716N possibly damaging Het
Cfap47 T A X: 78,553,621 (GRCm39) T285S probably damaging Het
Cfh T C 1: 140,014,234 (GRCm39) M1197V probably damaging Het
Cyp3a11 A G 5: 145,802,810 (GRCm39) F228L probably benign Het
Ddx24 A G 12: 103,383,864 (GRCm39) M575T probably benign Het
Dhx36 A T 3: 62,395,643 (GRCm39) probably benign Het
Dmxl2 T A 9: 54,301,053 (GRCm39) I1554L probably damaging Het
Dsp A G 13: 38,378,665 (GRCm39) probably null Het
Dsp A G 13: 38,381,594 (GRCm39) S2181G probably benign Het
Epg5 T C 18: 78,060,894 (GRCm39) I1959T probably benign Het
Fam135a T A 1: 24,096,515 (GRCm39) K77* probably null Het
Fam209 T C 2: 172,315,915 (GRCm39) S97P probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Fzd5 A G 1: 64,775,498 (GRCm39) S88P probably damaging Het
Galnt12 A T 4: 47,104,140 (GRCm39) T133S probably damaging Het
Gja8 A G 3: 96,827,161 (GRCm39) L167P probably damaging Het
Gm8730 T C 8: 103,591,664 (GRCm39) noncoding transcript Het
Gsdmd A G 15: 75,737,939 (GRCm39) D247G probably benign Het
Iqcg A G 16: 32,840,909 (GRCm39) probably null Het
Lamb1 C T 12: 31,371,074 (GRCm39) A1375V probably null Het
Mlip A G 9: 77,097,662 (GRCm39) S282P probably damaging Het
Nfxl1 A T 5: 72,674,405 (GRCm39) D831E probably damaging Het
Nipbl T C 15: 8,325,145 (GRCm39) D2506G probably damaging Het
Or6c212 A T 10: 129,558,984 (GRCm39) V143D probably damaging Het
Or7a39 T A 10: 78,715,766 (GRCm39) Y253* probably null Het
Pcdhb9 T C 18: 37,534,654 (GRCm39) L216P possibly damaging Het
Pigc G A 1: 161,798,860 (GRCm39) G281R possibly damaging Het
Polr3g C T 13: 81,842,754 (GRCm39) R87H probably damaging Het
Ppfia4 T C 1: 134,241,449 (GRCm39) D502G probably benign Het
Psg18 T A 7: 18,088,748 (GRCm39) probably benign Het
Rad9a G A 19: 4,247,694 (GRCm39) R179C probably damaging Het
Rxra A G 2: 27,644,289 (GRCm39) D327G probably damaging Het
Samd7 T C 3: 30,805,283 (GRCm39) V22A possibly damaging Het
Slc22a29 A T 19: 8,195,973 (GRCm39) V22D possibly damaging Het
Slmap C A 14: 26,148,397 (GRCm39) R671S probably damaging Het
Smarcal1 T C 1: 72,665,755 (GRCm39) F751S possibly damaging Het
Sptssa T C 12: 54,703,180 (GRCm39) E30G probably damaging Het
Stpg2 A G 3: 139,023,238 (GRCm39) K418R probably benign Het
Tasor2 T C 13: 3,640,538 (GRCm39) I200V probably benign Het
Tmem19 A G 10: 115,195,675 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmod1 T C 4: 46,097,026 (GRCm39) V273A probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Uggt1 A T 1: 36,221,588 (GRCm39) L43* probably null Het
Vmn1r205 A T 13: 22,776,671 (GRCm39) F144I probably damaging Het
Vmn2r54 G A 7: 12,366,223 (GRCm39) T237I probably benign Het
Vmn2r7 A T 3: 64,632,412 (GRCm39) F17I possibly damaging Het
Vpreb3 G A 10: 75,779,125 (GRCm39) probably null Het
Vps13d T A 4: 144,842,218 (GRCm39) probably benign Het
Zkscan5 A T 5: 145,157,723 (GRCm39) R742W probably damaging 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
R2846:Smarcb1 UTSW 10 75,733,375 (GRCm39) missense probably damaging 1.00
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'- GAGTACGGGAGACTCTATTCCTG -3'
(R):5'- CTGGAGGCATTGTCTCAGTG -3'

Sequencing Primer
(F):5'- GGAGACTCTATTCCTGAGCCAC -3'
(R):5'- CATTGTCTCAGTGTGGTGCTAG -3'
Posted On 2015-03-18