Incidental Mutation 'R6582:Smarca5'
ID 524160
Institutional Source Beutler Lab
Gene Symbol Smarca5
Ensembl Gene ENSMUSG00000031715
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Synonyms D330027N15Rik, 4933427E24Rik, D030040M08Rik, Snf2h, MommeD4
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 81426572-81466088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81446281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 473 (T473I)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
AlphaFold Q91ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000043359
AA Change: T473I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: T473I

DomainStartEndE-ValueType
low complexity region 2 53 N/A INTRINSIC
Pfam:DBINO 65 112 1.1e-4 PFAM
low complexity region 145 156 N/A INTRINSIC
DEXDc 175 367 3.9e-46 SMART
Blast:DEXDc 386 421 6e-11 BLAST
HELICc 512 596 6.2e-28 SMART
low complexity region 756 768 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
SANT 840 889 2.3e-7 SMART
SANT 942 1006 3e-7 SMART
low complexity region 1008 1024 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140110
Meta Mutation Damage Score 0.2528 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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 a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Smarca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Smarca5 APN 8 81,440,670 (GRCm39) missense probably benign 0.10
IGL01138:Smarca5 APN 8 81,427,705 (GRCm39) missense possibly damaging 0.87
IGL01290:Smarca5 APN 8 81,454,277 (GRCm39) missense probably benign
IGL02338:Smarca5 APN 8 81,446,199 (GRCm39) splice site probably benign
IGL03212:Smarca5 APN 8 81,438,410 (GRCm39) missense possibly damaging 0.47
IGL03216:Smarca5 APN 8 81,446,287 (GRCm39) missense probably damaging 1.00
Cipher UTSW 8 81,446,281 (GRCm39) missense probably damaging 1.00
Codebook UTSW 8 81,460,336 (GRCm39) missense probably benign
Codex UTSW 8 81,437,192 (GRCm39) missense probably damaging 0.99
Encryption UTSW 8 81,431,355 (GRCm39) missense probably damaging 1.00
Enigma UTSW 8 81,431,961 (GRCm39) missense probably benign 0.35
Key UTSW 8 81,452,680 (GRCm39) missense probably damaging 1.00
Sailor UTSW 8 81,463,355 (GRCm39) missense probably benign 0.07
Soldier UTSW 8 81,446,344 (GRCm39) missense probably damaging 1.00
tinker UTSW 8 81,460,379 (GRCm39) missense probably benign
R0254:Smarca5 UTSW 8 81,431,329 (GRCm39) missense probably benign 0.05
R0374:Smarca5 UTSW 8 81,463,360 (GRCm39) missense probably benign 0.30
R0625:Smarca5 UTSW 8 81,447,315 (GRCm39) critical splice donor site probably null
R1065:Smarca5 UTSW 8 81,431,343 (GRCm39) missense probably damaging 1.00
R1164:Smarca5 UTSW 8 81,437,260 (GRCm39) missense probably damaging 1.00
R1709:Smarca5 UTSW 8 81,435,849 (GRCm39) nonsense probably null
R2102:Smarca5 UTSW 8 81,431,304 (GRCm39) missense probably damaging 1.00
R3831:Smarca5 UTSW 8 81,455,123 (GRCm39) missense probably damaging 0.99
R4625:Smarca5 UTSW 8 81,437,192 (GRCm39) missense probably damaging 0.99
R4750:Smarca5 UTSW 8 81,460,336 (GRCm39) missense probably benign
R4822:Smarca5 UTSW 8 81,435,309 (GRCm39) splice site probably null
R4889:Smarca5 UTSW 8 81,431,326 (GRCm39) missense possibly damaging 0.95
R5756:Smarca5 UTSW 8 81,437,233 (GRCm39) missense probably benign
R6120:Smarca5 UTSW 8 81,438,372 (GRCm39) missense probably damaging 0.98
R6939:Smarca5 UTSW 8 81,431,949 (GRCm39) missense possibly damaging 0.63
R6972:Smarca5 UTSW 8 81,431,380 (GRCm39) missense probably damaging 1.00
R6973:Smarca5 UTSW 8 81,431,380 (GRCm39) missense probably damaging 1.00
R7027:Smarca5 UTSW 8 81,463,355 (GRCm39) missense probably benign 0.07
R7376:Smarca5 UTSW 8 81,452,680 (GRCm39) missense probably damaging 1.00
R7514:Smarca5 UTSW 8 81,444,163 (GRCm39) missense probably damaging 1.00
R7962:Smarca5 UTSW 8 81,463,388 (GRCm39) missense probably benign
R8031:Smarca5 UTSW 8 81,431,311 (GRCm39) missense probably damaging 1.00
R8400:Smarca5 UTSW 8 81,435,756 (GRCm39) missense probably benign 0.02
R8798:Smarca5 UTSW 8 81,443,137 (GRCm39) missense probably damaging 1.00
R8817:Smarca5 UTSW 8 81,460,379 (GRCm39) missense probably benign
R8824:Smarca5 UTSW 8 81,431,961 (GRCm39) missense probably benign 0.35
R8905:Smarca5 UTSW 8 81,440,577 (GRCm39) missense probably benign 0.14
R9018:Smarca5 UTSW 8 81,431,355 (GRCm39) missense probably damaging 1.00
R9028:Smarca5 UTSW 8 81,440,642 (GRCm39) missense probably damaging 1.00
R9203:Smarca5 UTSW 8 81,431,258 (GRCm39) nonsense probably null
R9253:Smarca5 UTSW 8 81,446,344 (GRCm39) missense probably damaging 1.00
R9294:Smarca5 UTSW 8 81,446,432 (GRCm39) missense probably damaging 1.00
R9328:Smarca5 UTSW 8 81,447,378 (GRCm39) missense probably benign 0.00
R9396:Smarca5 UTSW 8 81,463,358 (GRCm39) missense probably benign 0.00
R9514:Smarca5 UTSW 8 81,428,840 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGGTCGCTACTCTGCATG -3'
(R):5'- GGATTAAGTATGCAATGTGGTAGGC -3'

Sequencing Primer
(F):5'- AATGGTCGCTACTCTGCATGTTTATC -3'
(R):5'- TGCAATGTGGTAGGCATATTAAAC -3'
Posted On 2018-06-22