Incidental Mutation 'R7514:Smarca5'
ID 582307
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 045587-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 81426572-81466088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81444163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 534 (H534Q)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
AlphaFold Q91ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000043359
AA Change: H534Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: H534Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,086,628 (GRCm39) L261P probably damaging Het
A4gnt A G 9: 99,502,598 (GRCm39) I253V probably benign Het
AAdacl4fm3 A T 4: 144,429,798 (GRCm39) V397D possibly damaging Het
Acap2 A T 16: 30,973,385 (GRCm39) probably null Het
Adora2b G T 11: 62,156,146 (GRCm39) M198I probably damaging Het
Akap5 C A 12: 76,375,303 (GRCm39) T245K probably benign Het
Aldh1a2 T C 9: 71,192,245 (GRCm39) I399T probably damaging Het
Ank2 G A 3: 126,819,252 (GRCm39) S473L probably benign Het
Anln A T 9: 22,272,153 (GRCm39) D655E probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
Arid1b A G 17: 5,391,989 (GRCm39) K1787E probably benign Het
Art4 T C 6: 136,831,739 (GRCm39) H134R probably benign Het
Borcs6 G A 11: 68,951,410 (GRCm39) V263M probably damaging Het
C8a A T 4: 104,703,247 (GRCm39) M314K possibly damaging Het
Cbfa2t3 T G 8: 123,361,865 (GRCm39) M386L probably damaging Het
Ccdc170 T A 10: 4,496,839 (GRCm39) V459E probably benign Het
Cdh4 T A 2: 179,532,636 (GRCm39) N699K possibly damaging Het
Cdk12 T C 11: 98,113,484 (GRCm39) L756P unknown Het
Chsy1 A G 7: 65,821,868 (GRCm39) D701G probably damaging Het
Cnot9 A G 1: 74,567,921 (GRCm39) T270A probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csnk2a1-ps3 A G 1: 156,352,324 (GRCm39) D175G probably benign Het
Cyb5r1 A G 1: 134,338,268 (GRCm39) E228G probably damaging Het
D630003M21Rik A G 2: 158,059,273 (GRCm39) L209P probably damaging Het
Dennd2c T A 3: 103,070,378 (GRCm39) D791E probably benign Het
Dnah14 T C 1: 181,455,632 (GRCm39) I919T probably damaging Het
Dpp8 T C 9: 64,986,036 (GRCm39) L842S probably damaging Het
Ern1 A G 11: 106,300,719 (GRCm39) probably null Het
Exo1 T C 1: 175,734,232 (GRCm39) probably null Het
Fam161b T G 12: 84,404,512 (GRCm39) E56A possibly damaging Het
Fbrsl1 T C 5: 110,580,799 (GRCm39) T153A probably benign Het
Fcgr3 T G 1: 170,886,912 (GRCm39) D4A probably benign Het
Gltp C T 5: 114,808,521 (GRCm39) A193T probably benign Het
Gm3159 A T 14: 4,399,690 (GRCm38) S142C probably damaging Het
Gphn T C 12: 78,672,939 (GRCm39) V485A probably damaging Het
Grik2 A T 10: 49,399,904 (GRCm39) N275K probably damaging Het
Gstt3 G T 10: 75,612,625 (GRCm39) Q102K probably damaging Het
Hivep3 T A 4: 119,954,052 (GRCm39) F789L possibly damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Itga3 C T 11: 94,956,722 (GRCm39) W177* probably null Het
Jag2 T C 12: 112,892,672 (GRCm39) T83A probably benign Het
Krt90 G A 15: 101,461,605 (GRCm39) T532I unknown Het
Lcn2 A G 2: 32,277,861 (GRCm39) probably null Het
Lrig2 A G 3: 104,373,076 (GRCm39) S602P probably damaging Het
Lsm1 A C 8: 26,282,237 (GRCm39) R33S probably damaging Het
Mast4 A T 13: 102,923,934 (GRCm39) Y492* probably null Het
Mcm3 A T 1: 20,876,120 (GRCm39) L658Q probably benign Het
Myh4 G A 11: 67,134,148 (GRCm39) probably null Het
Nck2 T C 1: 43,608,381 (GRCm39) V341A probably benign Het
Nucb1 T C 7: 45,151,142 (GRCm39) probably null Het
Nup210l G C 3: 90,117,766 (GRCm39) probably null Het
Or1j1 A G 2: 36,702,651 (GRCm39) I151T probably benign Het
Or5al5 A T 2: 85,961,972 (GRCm39) F12I probably damaging Het
Or7g22 A T 9: 19,049,161 (GRCm39) S291C possibly damaging Het
Or8b48 T A 9: 38,493,347 (GRCm39) M258K probably damaging Het
Or8b54 G A 9: 38,686,974 (GRCm39) C141Y probably damaging Het
Pla2g4a G A 1: 149,727,113 (GRCm39) P556S probably damaging Het
Plat T C 8: 23,265,658 (GRCm39) C234R probably damaging Het
Ppfia1 T C 7: 144,071,450 (GRCm39) I321V probably benign Het
Prrc1 T A 18: 57,496,325 (GRCm39) V92E probably benign Het
Prss3 A G 6: 41,350,848 (GRCm39) V214A probably damaging Het
Ptprg G T 14: 12,179,342 (GRCm38) K786N possibly damaging Het
Rabgap1 G T 2: 37,427,354 (GRCm39) G645V probably damaging Het
Rfx4 T C 10: 84,716,090 (GRCm39) S470P probably damaging Het
Rin3 C T 12: 102,335,909 (GRCm39) Q607* probably null Het
Sema3a A G 5: 13,573,093 (GRCm39) H207R probably benign Het
Serpinb12 G A 1: 106,878,534 (GRCm39) E181K probably damaging Het
Serpinb6c G A 13: 34,081,386 (GRCm39) Q88* probably null Het
Shmt1 A C 11: 60,692,812 (GRCm39) C90W probably damaging Het
Slc16a13 C T 11: 70,109,710 (GRCm39) V264M probably damaging Het
Slc17a8 G T 10: 89,427,969 (GRCm39) P286Q probably damaging Het
Slc27a6 C T 18: 58,745,293 (GRCm39) Q576* probably null Het
Slc30a9 T C 5: 67,505,421 (GRCm39) S470P possibly damaging Het
Slc44a2 G T 9: 21,253,768 (GRCm39) K136N possibly damaging Het
Son T G 16: 91,451,748 (GRCm39) L165R probably damaging Het
Sox10 G A 15: 79,040,421 (GRCm39) P373L probably benign Het
Sp100 C T 1: 85,608,860 (GRCm39) R330* probably null Het
Srrm4 A G 5: 116,584,570 (GRCm39) L500P probably damaging Het
Tap1 T C 17: 34,415,639 (GRCm39) L689P probably damaging Het
Tfg A G 16: 56,525,972 (GRCm39) probably null Het
Tjp2 C T 19: 24,088,886 (GRCm39) V677I probably benign Het
Tmprss11g T G 5: 86,645,176 (GRCm39) D85A probably damaging Het
Tnfsf9 T C 17: 57,414,238 (GRCm39) S222P probably damaging Het
Trank1 A G 9: 111,193,824 (GRCm39) N616S probably damaging Het
Tubgcp6 C A 15: 89,004,728 (GRCm39) W297L probably damaging Het
Twist1 T C 12: 34,008,355 (GRCm39) S127P probably damaging Het
Ubr4 T C 4: 139,179,966 (GRCm39) I247T unknown Het
Ubr5 G A 15: 37,988,481 (GRCm39) T2153M Het
Utrn A G 10: 12,573,833 (GRCm39) V1079A probably benign Het
Vcan T C 13: 89,852,237 (GRCm39) T908A probably damaging Het
Vmn2r104 A G 17: 20,249,791 (GRCm39) F827L probably damaging Het
Vmn2r111 T A 17: 22,767,380 (GRCm39) T706S probably benign Het
Vmn2r114 T C 17: 23,527,035 (GRCm39) D499G probably null Het
Vmn2r92 T C 17: 18,391,533 (GRCm39) S512P probably damaging Het
Vps4b A T 1: 106,708,232 (GRCm39) probably null Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt10b T C 15: 98,672,045 (GRCm39) Q224R probably benign Het
Ylpm1 C T 12: 85,077,268 (GRCm39) P1331L possibly damaging Het
Zfhx4 G A 3: 5,307,267 (GRCm39) M164I possibly damaging Het
Zfp51 A G 17: 21,683,762 (GRCm39) T126A probably benign Het
Zfp609 A G 9: 65,613,418 (GRCm39) V339A probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zfyve21 C T 12: 111,790,249 (GRCm39) L84F 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
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
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'- ACCATCATGCCTGGCTTAG -3'
(R):5'- AATGGCTGGCCTAGGTATTTATTGA -3'

Sequencing Primer
(F):5'- ACTGGCTGCTCTTCTAGAGGAC -3'
(R):5'- GGCCTAGGTATTTATTGATGTCATTG -3'
Posted On 2019-10-17