Incidental Mutation 'R4625:Smarca5'
ID 346492
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 D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h
MMRRC Submission 041890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4625 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80698507-80739497 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80710563 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 721 (K721N)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
AlphaFold Q91ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000043359
AA Change: K721N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: K721N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150277
Meta Mutation Damage Score 0.1150 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (75/77)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A C 5: 145,044,883 (GRCm38) E176A possibly damaging Het
2010111I01Rik T C 13: 63,068,092 (GRCm38) S393P probably benign Het
4933417A18Rik G A 13: 34,932,465 (GRCm38) G66S probably damaging Het
5830473C10Rik G T 5: 90,571,752 (GRCm38) V236L probably damaging Het
Abcc2 A G 19: 43,803,739 (GRCm38) I320V probably benign Het
Abtb1 C T 6: 88,836,287 (GRCm38) A466T probably benign Het
Ak6 C A 13: 100,655,673 (GRCm38) T208K probably benign Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Anapc15 T A 7: 101,901,032 (GRCm38) probably benign Het
Aspn A G 13: 49,557,425 (GRCm38) D182G probably benign Het
Astn1 A T 1: 158,580,294 (GRCm38) D607V probably damaging Het
Btnl1 A G 17: 34,379,751 (GRCm38) I114V probably null Het
Ccdc159 A G 9: 21,929,466 (GRCm38) S110G probably benign Het
Ccdc94 T A 17: 55,964,598 (GRCm38) L173Q probably damaging Het
Cdh18 A C 15: 22,714,042 (GRCm38) probably benign Het
Cdh22 A G 2: 165,112,606 (GRCm38) I665T probably damaging Het
Cenpk T A 13: 104,249,393 (GRCm38) H265Q possibly damaging Het
Chd6 A G 2: 160,969,492 (GRCm38) L1397P probably damaging Het
Chia1 A C 3: 106,128,940 (GRCm38) N279H probably benign Het
Cyp8b1 T C 9: 121,915,585 (GRCm38) E227G probably damaging Het
Dmxl2 A T 9: 54,404,120 (GRCm38) N1772K possibly damaging Het
Dnah2 A G 11: 69,463,661 (GRCm38) S2244P probably damaging Het
Fshr T C 17: 88,985,720 (GRCm38) Y510C probably damaging Het
Gm21188 G T 13: 120,035,229 (GRCm38) R35S possibly damaging Het
Gm5087 T C 14: 13,158,798 (GRCm38) noncoding transcript Het
Gm7135 A C 1: 97,459,626 (GRCm38) noncoding transcript Het
Hnrnpll A T 17: 80,050,862 (GRCm38) Y153* probably null Het
Htt T A 5: 34,829,785 (GRCm38) V1116E probably damaging Het
Ikzf5 A T 7: 131,393,753 (GRCm38) probably null Het
Kcnb1 A G 2: 167,188,233 (GRCm38) S131P probably damaging Het
Kcnd3 C T 3: 105,658,766 (GRCm38) A421V probably damaging Het
Kctd21 A G 7: 97,347,575 (GRCm38) D85G probably damaging Het
Kera A G 10: 97,609,631 (GRCm38) N284S probably benign Het
Kif1a A T 1: 93,042,659 (GRCm38) D952E probably benign Het
Klf4 A G 4: 55,530,370 (GRCm38) V247A probably benign Het
Krt1 C T 15: 101,846,187 (GRCm38) G543S unknown Het
Lamc1 A G 1: 153,242,696 (GRCm38) S910P probably benign Het
Lin9 T A 1: 180,689,280 (GRCm38) N512K probably damaging Het
Mettl7a1 A T 15: 100,313,058 (GRCm38) Q170L probably damaging Het
Mroh2a A T 1: 88,254,965 (GRCm38) N1205I possibly damaging Het
Mrps30 A G 13: 118,386,714 (GRCm38) V174A probably benign Het
Myo1g T C 11: 6,512,240 (GRCm38) E574G probably damaging Het
Nphp3 G A 9: 104,036,159 (GRCm38) G997R possibly damaging Het
Obscn A G 11: 59,067,258 (GRCm38) C3748R probably damaging Het
Olfr346 A G 2: 36,688,071 (GRCm38) D23G probably benign Het
Olfr466 T A 13: 65,152,860 (GRCm38) V212D possibly damaging Het
Olfr494 T C 7: 108,367,688 (GRCm38) L66P probably damaging Het
Olfr945 A T 9: 39,258,318 (GRCm38) M118K probably damaging Het
Orc5 G T 5: 22,548,005 (GRCm38) F10L probably benign Het
Ptch1 T C 13: 63,523,164 (GRCm38) T851A probably benign Het
Ranbp6 A T 19: 29,810,863 (GRCm38) Y696* probably null Het
Rbp3 A G 14: 33,956,099 (GRCm38) Q668R probably benign Het
Rfwd3 T C 8: 111,276,358 (GRCm38) T611A probably benign Het
Rhcg T A 7: 79,601,604 (GRCm38) D219V probably damaging Het
Rmi1 A G 13: 58,409,136 (GRCm38) R400G probably benign Het
Slc25a26 G T 6: 94,507,652 (GRCm38) V58F probably damaging Het
Sp110 A C 1: 85,577,329 (GRCm38) F434C probably benign Het
Speer2 A T 16: 69,858,754 (GRCm38) Y61* probably null Het
Spef2 T C 15: 9,647,438 (GRCm38) Y961C probably damaging Het
Sptb C A 12: 76,587,326 (GRCm38) probably null Het
Svep1 T G 4: 58,072,698 (GRCm38) N2204H probably damaging Het
Tmem86a C A 7: 47,052,865 (GRCm38) P13T probably damaging Het
Tmtc2 A T 10: 105,303,650 (GRCm38) S672T probably benign Het
Tox2 G A 2: 163,314,416 (GRCm38) S211N possibly damaging Het
Trpc6 A T 9: 8,677,962 (GRCm38) E762D probably benign Het
Tshb C T 3: 102,778,145 (GRCm38) probably null Het
Ttc3 T A 16: 94,388,272 (GRCm38) L163* probably null Het
Twsg1 G T 17: 65,929,551 (GRCm38) D161E probably benign Het
Uchl4 A C 9: 64,235,798 (GRCm38) D187A probably damaging Het
Vmn2r104 A T 17: 20,048,181 (GRCm38) W9R probably benign Het
Zfp14 G A 7: 30,038,595 (GRCm38) Q322* probably null Het
Znhit3 G A 11: 84,911,490 (GRCm38) P145S probably damaging Het
Other mutations in Smarca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Smarca5 APN 8 80,714,041 (GRCm38) missense probably benign 0.10
IGL01138:Smarca5 APN 8 80,701,076 (GRCm38) missense possibly damaging 0.87
IGL01290:Smarca5 APN 8 80,727,648 (GRCm38) missense probably benign
IGL02338:Smarca5 APN 8 80,719,570 (GRCm38) splice site probably benign
IGL03212:Smarca5 APN 8 80,711,781 (GRCm38) missense possibly damaging 0.47
IGL03216:Smarca5 APN 8 80,719,658 (GRCm38) missense probably damaging 1.00
Cipher UTSW 8 80,719,652 (GRCm38) missense probably damaging 1.00
Codebook UTSW 8 80,733,707 (GRCm38) missense probably benign
Codex UTSW 8 80,710,563 (GRCm38) missense probably damaging 0.99
Encryption UTSW 8 80,704,726 (GRCm38) missense probably damaging 1.00
Enigma UTSW 8 80,705,332 (GRCm38) missense probably benign 0.35
Key UTSW 8 80,726,051 (GRCm38) missense probably damaging 1.00
Sailor UTSW 8 80,736,726 (GRCm38) missense probably benign 0.07
Soldier UTSW 8 80,719,715 (GRCm38) missense probably damaging 1.00
tinker UTSW 8 80,733,750 (GRCm38) missense probably benign
R0254:Smarca5 UTSW 8 80,704,700 (GRCm38) missense probably benign 0.05
R0374:Smarca5 UTSW 8 80,736,731 (GRCm38) missense probably benign 0.30
R0625:Smarca5 UTSW 8 80,720,686 (GRCm38) critical splice donor site probably null
R1065:Smarca5 UTSW 8 80,704,714 (GRCm38) missense probably damaging 1.00
R1164:Smarca5 UTSW 8 80,710,631 (GRCm38) missense probably damaging 1.00
R1709:Smarca5 UTSW 8 80,709,220 (GRCm38) nonsense probably null
R2102:Smarca5 UTSW 8 80,704,675 (GRCm38) missense probably damaging 1.00
R3831:Smarca5 UTSW 8 80,728,494 (GRCm38) missense probably damaging 0.99
R4750:Smarca5 UTSW 8 80,733,707 (GRCm38) missense probably benign
R4822:Smarca5 UTSW 8 80,708,680 (GRCm38) splice site probably null
R4889:Smarca5 UTSW 8 80,704,697 (GRCm38) missense possibly damaging 0.95
R5756:Smarca5 UTSW 8 80,710,604 (GRCm38) missense probably benign
R6120:Smarca5 UTSW 8 80,711,743 (GRCm38) missense probably damaging 0.98
R6582:Smarca5 UTSW 8 80,719,652 (GRCm38) missense probably damaging 1.00
R6939:Smarca5 UTSW 8 80,705,320 (GRCm38) missense possibly damaging 0.63
R6972:Smarca5 UTSW 8 80,704,751 (GRCm38) missense probably damaging 1.00
R6973:Smarca5 UTSW 8 80,704,751 (GRCm38) missense probably damaging 1.00
R7027:Smarca5 UTSW 8 80,736,726 (GRCm38) missense probably benign 0.07
R7376:Smarca5 UTSW 8 80,726,051 (GRCm38) missense probably damaging 1.00
R7514:Smarca5 UTSW 8 80,717,534 (GRCm38) missense probably damaging 1.00
R7962:Smarca5 UTSW 8 80,736,759 (GRCm38) missense probably benign
R8031:Smarca5 UTSW 8 80,704,682 (GRCm38) missense probably damaging 1.00
R8400:Smarca5 UTSW 8 80,709,127 (GRCm38) missense probably benign 0.02
R8798:Smarca5 UTSW 8 80,716,508 (GRCm38) missense probably damaging 1.00
R8817:Smarca5 UTSW 8 80,733,750 (GRCm38) missense probably benign
R8824:Smarca5 UTSW 8 80,705,332 (GRCm38) missense probably benign 0.35
R8905:Smarca5 UTSW 8 80,713,948 (GRCm38) missense probably benign 0.14
R9018:Smarca5 UTSW 8 80,704,726 (GRCm38) missense probably damaging 1.00
R9028:Smarca5 UTSW 8 80,714,013 (GRCm38) missense probably damaging 1.00
R9203:Smarca5 UTSW 8 80,704,629 (GRCm38) nonsense probably null
R9253:Smarca5 UTSW 8 80,719,715 (GRCm38) missense probably damaging 1.00
R9294:Smarca5 UTSW 8 80,719,803 (GRCm38) missense probably damaging 1.00
R9328:Smarca5 UTSW 8 80,720,749 (GRCm38) missense probably benign 0.00
R9396:Smarca5 UTSW 8 80,736,729 (GRCm38) missense probably benign 0.00
R9514:Smarca5 UTSW 8 80,702,211 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACCCAGGGCCATATTAAG -3'
(R):5'- CCTCCTATAGTCCAGGCTGATG -3'

Sequencing Primer
(F):5'- ACCCAGGGCCATATTAAGATATC -3'
(R):5'- CTTTACGATGGACACAGAG -3'
Posted On 2015-09-25