Incidental Mutation 'R1065:Smarca5'
ID 85967
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 039151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1065 (G1)
Quality Score 159
Status Validated
Chromosome 8
Chromosomal Location 81426572-81466088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81431343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 958 (L958Q)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
AlphaFold Q91ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000043359
AA Change: L958Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: L958Q

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: ENSMUST00000142470
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 97% (36/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd300ld2 T C 11: 114,904,586 (GRCm39) T94A probably damaging Het
Cdc42bpg G A 19: 6,372,856 (GRCm39) S1515N probably damaging Het
Ckb T C 12: 111,637,681 (GRCm39) E150G probably benign Het
Clec2m A G 6: 129,300,013 (GRCm39) I155T possibly damaging Het
Cobl T A 11: 12,204,327 (GRCm39) M785L possibly damaging Het
Col6a5 T C 9: 105,758,982 (GRCm39) N2075D probably damaging Het
Commd7 G C 2: 153,461,447 (GRCm39) probably benign Het
Corin G A 5: 72,458,993 (GRCm39) R927* probably null Het
Dync2i1 C T 12: 116,219,696 (GRCm39) R82H probably damaging Het
Ift122 A T 6: 115,852,286 (GRCm39) probably null Het
Il1b G A 2: 129,209,927 (GRCm39) T83I probably benign Het
Ints4 T C 7: 97,157,099 (GRCm39) probably null Het
Msh6 T G 17: 88,295,891 (GRCm39) probably benign Het
Mtmr3 T C 11: 4,442,859 (GRCm39) K392E probably damaging Het
Or5t9 A G 2: 86,659,888 (GRCm39) H264R probably damaging Het
Pde3a T C 6: 141,422,458 (GRCm39) probably benign Het
Pde6h A C 6: 136,936,368 (GRCm39) K37T probably damaging Het
Plat C A 8: 23,266,879 (GRCm39) D290E probably damaging Het
Polk A C 13: 96,644,760 (GRCm39) L122R probably damaging Het
Ppp1r3g T A 13: 36,153,418 (GRCm39) D279E probably benign Het
Ptpru T C 4: 131,535,651 (GRCm39) E370G possibly damaging Het
Ralgapa2 T C 2: 146,292,478 (GRCm39) Y187C probably benign Het
Rps6ka2 C T 17: 7,549,157 (GRCm39) probably benign Het
Slit3 T C 11: 35,012,462 (GRCm39) S41P possibly damaging Het
Snx9 T C 17: 5,952,636 (GRCm39) probably benign Het
Stkld1 A T 2: 26,830,050 (GRCm39) N72I probably damaging Het
Strc C A 2: 121,197,132 (GRCm39) D1532Y probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Svil T G 18: 5,063,777 (GRCm39) probably benign Het
Traf3ip1 T A 1: 91,428,506 (GRCm39) D122E unknown Het
Vmn2r7 A T 3: 64,614,559 (GRCm39) D509E possibly damaging Het
Vps52 C A 17: 34,180,213 (GRCm39) Q306K probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp418 C A 7: 7,184,561 (GRCm39) Q175K probably benign Het
Zxdc T C 6: 90,355,885 (GRCm39) S465P 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
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
R6582:Smarca5 UTSW 8 81,446,281 (GRCm39) missense probably damaging 1.00
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'- CTGATGAGCAGACAGATGCCTGAAG -3'
(R):5'- GTTAGCCTGGTTTAAAGAAGACCCCAC -3'

Sequencing Primer
(F):5'- AGAGCTGTCTACTTGCAAACTC -3'
(R):5'- GAAGACCCCACTTCTTAAGTGTTAG -3'
Posted On 2013-11-18