Incidental Mutation 'R2102:Smarca5'
ID 230580
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 040106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2102 (G1)
Quality Score 164
Status Not validated
Chromosome 8
Chromosomal Location 81426572-81466088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81431304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 971 (E971G)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
AlphaFold Q91ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000043359
AA Change: E971G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: E971G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,770,934 (GRCm39) L41P probably damaging Het
Abca8a G T 11: 109,958,878 (GRCm39) P749T probably damaging Het
Acad8 A T 9: 26,896,861 (GRCm39) Y199* probably null Het
Acot12 A T 13: 91,908,096 (GRCm39) I93L probably benign Het
Acsbg3 T A 17: 57,191,949 (GRCm39) Y542* probably null Het
Actn1 C A 12: 80,230,291 (GRCm39) R321L probably benign Het
Ap3s1 A G 18: 46,887,469 (GRCm39) E34G possibly damaging Het
Armh4 A G 14: 50,011,459 (GRCm39) Y83H probably damaging Het
Atp5f1a T C 18: 77,870,017 (GRCm39) S533P probably damaging Het
Bcorl1 T C X: 47,458,081 (GRCm39) V538A probably benign Het
Cdhr4 A G 9: 107,875,206 (GRCm39) T689A probably damaging Het
Cdk19 A T 10: 40,355,726 (GRCm39) probably benign Het
Cobll1 G T 2: 64,928,554 (GRCm39) P923Q probably damaging Het
Cpt1a T C 19: 3,421,585 (GRCm39) S456P probably benign Het
Cst11 T C 2: 148,613,160 (GRCm39) Y55C probably damaging Het
Ctif T G 18: 75,654,452 (GRCm39) D358A probably benign Het
Cyp2d34 T G 15: 82,500,974 (GRCm39) E386A probably benign Het
Dcxr A G 11: 120,617,133 (GRCm39) F104L probably benign Het
Dmbt1 G T 7: 130,703,762 (GRCm39) W1107C probably damaging Het
Dsg1a A T 18: 20,466,830 (GRCm39) I567F probably damaging Het
Ednrb T A 14: 104,058,350 (GRCm39) R318* probably null Het
Exd2 T C 12: 80,527,377 (GRCm39) I36T possibly damaging Het
Fam83b A T 9: 76,399,987 (GRCm39) I372N probably damaging Het
Fbh1 A G 2: 11,763,100 (GRCm39) V518A probably benign Het
Fkbp5 T C 17: 28,625,162 (GRCm39) E308G possibly damaging Het
Foxl2 A C 9: 98,838,282 (GRCm39) Y190S probably damaging Het
Gab3 TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 74,043,585 (GRCm39) probably benign Het
Galnt17 C T 5: 131,114,831 (GRCm39) R223Q probably damaging Het
Gm14496 G A 2: 181,633,127 (GRCm39) D37N possibly damaging Het
Gpr82 T C X: 13,532,274 (GRCm39) V274A probably benign Het
Hsp90aa1 T C 12: 110,660,566 (GRCm39) N292S probably damaging Het
Ints1 C T 5: 139,741,754 (GRCm39) V1826M possibly damaging Het
Itgb4 A G 11: 115,896,561 (GRCm39) D1440G probably benign Het
Kdm3b A G 18: 34,963,200 (GRCm39) D1552G probably damaging Het
Kel G A 6: 41,663,418 (GRCm39) T702I possibly damaging Het
Klf3 T C 5: 64,979,266 (GRCm39) V36A probably damaging Het
Klhl23 A T 2: 69,659,228 (GRCm39) I418F probably damaging Het
Kndc1 A T 7: 139,510,674 (GRCm39) I1329L probably benign Het
Krtap2-4 T C 11: 99,505,606 (GRCm39) probably benign Het
Krtap9-5 T A 11: 99,840,270 (GRCm39) C324S unknown Het
Lepr T C 4: 101,630,178 (GRCm39) V631A possibly damaging Het
Lifr T C 15: 7,216,404 (GRCm39) I793T probably damaging Het
Mcoln1 G A 8: 3,561,731 (GRCm39) R427H probably damaging Het
Mgat5b G A 11: 116,810,255 (GRCm39) probably benign Het
Mmp12 G A 9: 7,349,802 (GRCm39) V78M probably damaging Het
Mrgprb8 T A 7: 48,038,634 (GRCm39) L102M possibly damaging Het
Mybphl A G 3: 108,282,949 (GRCm39) T246A possibly damaging Het
Myo7b A T 18: 32,133,031 (GRCm39) F439L probably damaging Het
Myom1 A T 17: 71,408,024 (GRCm39) D1088V probably damaging Het
Nrcam T C 12: 44,623,471 (GRCm39) F1004S probably benign Het
Palld A T 8: 61,986,467 (GRCm39) M788K possibly damaging Het
Pappa T A 4: 65,234,465 (GRCm39) Y1423* probably null Het
Pfkm A G 15: 98,027,171 (GRCm39) K615E probably damaging Het
Pkd1l2 G T 8: 117,808,208 (GRCm39) D105E probably damaging Het
Plekha5 G A 6: 140,518,603 (GRCm39) A297T probably damaging Het
Plxnb1 T A 9: 108,944,810 (GRCm39) M2051K probably damaging Het
Ppp6r2 A G 15: 89,162,949 (GRCm39) T524A probably damaging Het
Psg26 T C 7: 18,209,067 (GRCm39) E447G probably damaging Het
Rab3gap2 A G 1: 185,014,586 (GRCm39) D1225G probably benign Het
Rep15 A G 6: 146,934,403 (GRCm39) probably null Het
Rgl2 G A 17: 34,152,314 (GRCm39) probably null Het
Rpl7a T G 2: 26,801,473 (GRCm39) V55G possibly damaging Het
Rtp1 A T 16: 23,250,108 (GRCm39) I158F probably benign Het
Scaper A T 9: 55,819,334 (GRCm39) V127E probably benign Het
Sele T A 1: 163,881,395 (GRCm39) C501S probably damaging Het
Serpina11 C T 12: 103,949,104 (GRCm39) V358I probably benign Het
Slc16a4 A G 3: 107,211,819 (GRCm39) probably null Het
Slco6c1 T C 1: 97,055,656 (GRCm39) I82V probably benign Het
Smr2 T C 5: 88,256,595 (GRCm39) L91P probably damaging Het
Spata31f3 T A 4: 42,868,558 (GRCm39) H355L probably benign Het
Spopfm2 A T 3: 94,082,973 (GRCm39) C279* probably null Het
Srrm2 A G 17: 24,036,722 (GRCm39) probably benign Het
Sting1 A T 18: 35,868,290 (GRCm39) M270K probably damaging Het
Syne1 A G 10: 5,006,514 (GRCm39) W7980R probably damaging Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tmem171 A T 13: 98,828,851 (GRCm39) F100I probably damaging Het
Tnfrsf10b A G 14: 70,013,546 (GRCm39) T159A probably benign Het
Tph1 A T 7: 46,309,834 (GRCm39) probably null Het
Trim46 A T 3: 89,142,504 (GRCm39) I638N probably damaging Het
Ubl7 G A 9: 57,827,825 (GRCm39) D171N probably damaging Het
Utp20 A G 10: 88,608,779 (GRCm39) Y1514H probably damaging Het
Vmn2r81 A G 10: 79,129,334 (GRCm39) I742V probably damaging Het
Xrcc2 A T 5: 25,897,505 (GRCm39) V148E probably damaging Het
Zbed3 A G 13: 95,472,615 (GRCm39) D13G possibly damaging Het
Zdhhc25 T A 15: 88,484,962 (GRCm39) L99Q probably benign 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
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'- GCAAACTGTGGCTGTGGATAG -3'
(R):5'- CAAAGAGCAGGTACGAATCTTG -3'

Sequencing Primer
(F):5'- TAATCTCTGAAACTGAAGGAAAGTG -3'
(R):5'- ACATTTATGGTTAGTTATGGAAAGGC -3'
Posted On 2014-09-18