Incidental Mutation 'R5662:Smarcb1'
ID 444141
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 043305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5662 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75732603-75757448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75740404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 267 (N267S)
Ref Sequence ENSEMBL: ENSMUSP00000000925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000121304] [ENSMUST00000140388]
AlphaFold Q9Z0H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000000925
AA Change: N267S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: N267S

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
AA Change: N258S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
AA Change: N258S

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,749,855 (GRCm39) V1542D possibly damaging Het
Acsm4 T G 7: 119,294,023 (GRCm39) N131K possibly damaging Het
Ankrd54 A G 15: 78,946,814 (GRCm39) S62P possibly damaging Het
Ccdc186 A G 19: 56,781,920 (GRCm39) I753T probably benign Het
Cers2 C T 3: 95,228,295 (GRCm39) R112C probably damaging Het
Col6a4 C G 9: 105,945,200 (GRCm39) R971S probably damaging Het
Ctsf T C 19: 4,906,606 (GRCm39) S178P probably damaging Het
Dennd4c C T 4: 86,713,525 (GRCm39) T492I probably benign Het
Dhx8 A G 11: 101,657,584 (GRCm39) K1212E possibly damaging Het
Dnah8 A G 17: 30,956,307 (GRCm39) T2096A probably damaging Het
Ephb4 A T 5: 137,370,457 (GRCm39) I886F probably damaging Het
Eprs1 T G 1: 185,126,622 (GRCm39) N519K possibly damaging Het
Fam3c T C 6: 22,355,061 (GRCm39) probably benign Het
Galnt17 G A 5: 131,114,844 (GRCm39) R219C probably damaging Het
Gm10645 A G 8: 83,892,486 (GRCm39) probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Hydin T G 8: 111,307,341 (GRCm39) S3907A probably benign Het
Ighv1-49 A T 12: 115,019,027 (GRCm39) V56E probably damaging Het
Igtp A G 11: 58,097,105 (GRCm39) D92G probably damaging Het
Itga1 C T 13: 115,122,707 (GRCm39) V750I probably benign Het
Katnip A G 7: 125,441,875 (GRCm39) R595G probably benign Het
Kif3c T A 12: 3,417,031 (GRCm39) Y351N probably damaging Het
Klhdc1 T A 12: 69,329,939 (GRCm39) I356N probably benign Het
Lrrc34 T C 3: 30,685,473 (GRCm39) Y292C probably benign Het
Ly75 G A 2: 60,182,725 (GRCm39) T526M probably damaging Het
Mroh4 A T 15: 74,497,277 (GRCm39) D181E possibly damaging Het
Nutm1 T C 2: 112,079,645 (GRCm39) N757D probably benign Het
Or1e25 T C 11: 73,494,005 (GRCm39) F200L probably benign Het
Or1m1 A G 9: 18,666,896 (GRCm39) F12L probably damaging Het
Or6c215 T C 10: 129,638,176 (GRCm39) T73A possibly damaging Het
Or9s18 T C 13: 65,300,067 (GRCm39) F10L possibly damaging Het
Paxbp1 G A 16: 90,834,285 (GRCm39) T167M probably benign Het
Pnpla7 A G 2: 24,942,396 (GRCm39) D1238G probably damaging Het
Pom121l2 T C 13: 22,166,358 (GRCm39) S210P probably benign Het
Ripor3 T G 2: 167,835,476 (GRCm39) N165T probably benign Het
Serpine3 T G 14: 62,908,291 (GRCm39) S106R probably benign Het
Slc25a11 G A 11: 70,536,245 (GRCm39) R158* probably null Het
Slc26a6 G A 9: 108,736,538 (GRCm39) V506M possibly damaging Het
Slc45a2 A G 15: 11,022,169 (GRCm39) K304E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Spink6 C A 18: 44,207,481 (GRCm39) Q24K possibly damaging Het
Srebf2 T C 15: 82,079,204 (GRCm39) S811P probably benign Het
Ssc4d A G 5: 135,989,748 (GRCm39) *587R probably null Het
Sult2a8 C T 7: 14,161,765 (GRCm39) R27H probably benign Het
Sun2 C T 15: 79,623,069 (GRCm39) A90T probably benign Het
Ubr7 T C 12: 102,734,526 (GRCm39) S267P probably benign Het
Wdr55 G A 18: 36,893,448 (GRCm39) V37M possibly damaging Het
Xdh C T 17: 74,248,110 (GRCm39) G45S probably damaging Het
Zfp638 T A 6: 83,920,111 (GRCm39) S570T 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
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
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'- TGGTTATCCTACCTGAAGGCATAG -3'
(R):5'- TAGTGACAACCTGGAAGTCGG -3'

Sequencing Primer
(F):5'- CATAGGTCTTCTGGTGCCAGC -3'
(R):5'- CTGGAAGTCGGGGAGGTC -3'
Posted On 2016-11-09