Incidental Mutation 'R4790:Smarca1'
ID368528
Institutional Source Beutler Lab
Gene Symbol Smarca1
Ensembl Gene ENSMUSG00000031099
Gene NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
Synonyms5730494M04Rik, Snf2l
MMRRC Submission 042418-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.761) question?
Stock #R4790 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location47809368-47892974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47884067 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 132 (D132G)
Ref Sequence ENSEMBL: ENSMUSP00000114296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077569] [ENSMUST00000088973] [ENSMUST00000101616] [ENSMUST00000141084] [ENSMUST00000153548] [ENSMUST00000153587]
Predicted Effect probably null
Transcript: ENSMUST00000077569
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000076769
Gene: ENSMUSG00000031099
AA Change: D137G

DomainStartEndE-ValueType
Pfam:DBINO 44 123 2.4e-8 PFAM
low complexity region 154 165 N/A INTRINSIC
DEXDc 183 375 2.08e-42 SMART
Blast:DEXDc 394 429 2e-12 BLAST
HELICc 520 604 7.21e-28 SMART
SANT 848 897 1.92e-6 SMART
SANT 950 1014 1.28e-2 SMART
low complexity region 1015 1037 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000088973
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000086366
Gene: ENSMUSG00000031099
AA Change: D137G

DomainStartEndE-ValueType
Pfam:DBINO 44 123 2.4e-8 PFAM
low complexity region 154 165 N/A INTRINSIC
DEXDc 183 375 2.08e-42 SMART
Blast:DEXDc 394 429 2e-12 BLAST
HELICc 520 604 7.21e-28 SMART
SANT 848 897 1.92e-6 SMART
SANT 950 1014 1.28e-2 SMART
low complexity region 1015 1037 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000101616
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099138
Gene: ENSMUSG00000031099
AA Change: D137G

DomainStartEndE-ValueType
Pfam:DBINO 48 120 2.1e-8 PFAM
low complexity region 154 165 N/A INTRINSIC
DEXDc 183 375 2.08e-42 SMART
Blast:DEXDc 394 429 2e-12 BLAST
HELICc 520 604 7.21e-28 SMART
SANT 848 897 1.92e-6 SMART
SANT 950 1014 1.28e-2 SMART
low complexity region 1015 1037 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000141084
AA Change: D132G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135570
Gene: ENSMUSG00000031099
AA Change: D132G

DomainStartEndE-ValueType
Pfam:DBINO 42 118 3.7e-10 PFAM
low complexity region 149 160 N/A INTRINSIC
DEXDc 178 371 2.94e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153548
AA Change: D132G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114296
Gene: ENSMUSG00000031099
AA Change: D132G

DomainStartEndE-ValueType
Pfam:DBINO 42 118 7e-10 PFAM
low complexity region 149 160 N/A INTRINSIC
DEXDc 178 370 2.08e-42 SMART
Blast:DEXDc 389 424 1e-12 BLAST
HELICc 515 611 8.55e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153587
SMART Domains Protein: ENSMUSP00000116209
Gene: ENSMUSG00000031099

DomainStartEndE-ValueType
low complexity region 76 99 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Female mice homozygous and male mice hemizygous for a targeted disruption of this gene exhibit abnormalities in neuron differentiation and neuronal precursor proliferation, increased brain and heart weight, and forebrain hypercellularity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,930,552 I162N probably damaging Het
Abca5 T G 11: 110,311,410 T390P possibly damaging Het
Acss3 A T 10: 107,023,702 Y345* probably null Het
Adam26b A T 8: 43,520,727 S413T probably benign Het
Angpt2 T A 8: 18,714,082 Q148L probably damaging Het
Ank3 T A 10: 69,988,151 Y883* probably null Het
Ankrd52 A G 10: 128,380,945 K190E possibly damaging Het
Anks1b A G 10: 90,163,275 R415G probably damaging Het
Ano3 T A 2: 110,884,919 Q58L probably benign Het
Arhgap39 A T 15: 76,726,731 M924K possibly damaging Het
AU040320 A G 4: 126,847,215 M910V possibly damaging Het
BC051019 T A 7: 109,716,346 H86L probably benign Het
C1qbp G A 11: 70,980,030 Q151* probably null Het
C4b G T 17: 34,734,143 D1069E probably benign Het
C77080 C A 4: 129,223,302 R523L probably damaging Het
Casp1 C T 9: 5,303,020 T158I probably benign Het
Casq1 T C 1: 172,216,837 D141G probably damaging Het
Ccdc33 T A 9: 58,029,957 E653V probably damaging Het
Cd180 C T 13: 102,702,822 T71M probably damaging Het
Cdk4 T C 10: 127,064,701 L112P probably damaging Het
Celf2 A G 2: 6,549,903 F425S probably damaging Het
Chrm3 A T 13: 9,877,662 V446E probably benign Het
Chst9 A T 18: 15,453,050 L152H probably damaging Het
Cib2 A G 9: 54,549,803 probably null Het
Clec18a T C 8: 111,072,085 S366G probably damaging Het
Crebbp A G 16: 4,180,119 F34L probably damaging Het
Dapk1 AT A 13: 60,723,105 probably null Het
Ddi1 T A 9: 6,265,761 M203L probably benign Het
Ddx20 G T 3: 105,683,169 S270R probably benign Het
Epp13 A T 7: 6,266,318 K31* probably null Het
Espnl A T 1: 91,344,424 E458V probably damaging Het
Fat3 T C 9: 15,998,484 D2074G probably damaging Het
Fcf1 A G 12: 84,974,128 T61A probably benign Het
Fkbp15 T C 4: 62,307,997 R772G probably benign Het
Flnb T C 14: 7,905,661 V1137A probably benign Het
Fosb C A 7: 19,309,388 C15F probably damaging Het
Frem2 A T 3: 53,516,741 W3092R probably benign Het
Gm3248 T C 14: 5,945,831 I28V probably damaging Het
Gm4922 G T 10: 18,784,168 L269I possibly damaging Het
Gucy2e G A 11: 69,228,448 R627W probably damaging Het
Hephl1 T A 9: 15,059,171 E1009V probably damaging Het
Hsf4 A T 8: 105,270,605 Q61L probably damaging Het
Itgam T A 7: 128,116,273 N1046K probably benign Het
Itgav G A 2: 83,755,810 C138Y probably damaging Het
Itih4 A T 14: 30,889,910 Y157F probably damaging Het
Kcnt2 C T 1: 140,354,516 R80C probably damaging Het
Kdm4b G A 17: 56,401,618 V986M probably damaging Het
Lamb3 T A 1: 193,339,886 V1014D probably damaging Het
Lrrc74b G T 16: 17,549,853 N282K probably damaging Het
Map3k20 T A 2: 72,441,704 H725Q probably benign Het
Mink1 A G 11: 70,599,041 N81S probably damaging Het
Mmp21 A G 7: 133,675,030 Y415H probably damaging Het
Mycbp2 A T 14: 103,229,437 W1297R probably damaging Het
Myh8 T C 11: 67,279,963 M95T probably damaging Het
Myo7b A T 18: 32,000,105 probably null Het
Nanog A G 6: 122,707,915 M20V probably benign Het
Ncapd3 A G 9: 27,051,850 I484V probably benign Het
Ndufa12 A T 10: 94,220,758 N116I probably benign Het
Nedd4l A G 18: 65,203,945 I668V possibly damaging Het
Nobox T C 6: 43,305,546 D309G probably benign Het
Npnt A G 3: 132,890,762 probably benign Het
Nrxn1 A C 17: 90,455,049 Y2D possibly damaging Het
Obox6 G T 7: 15,834,577 P125T possibly damaging Het
Ofcc1 G A 13: 40,015,388 T841I probably damaging Het
Olfr1079 T C 2: 86,538,880 T10A possibly damaging Het
Olfr1193 T A 2: 88,678,387 N177K possibly damaging Het
Olfr1436 A G 19: 12,298,941 Y64H possibly damaging Het
Olfr202 A T 16: 59,284,458 V13D probably damaging Het
Olfr679 T C 7: 105,086,637 probably benign Het
Olfr697 C G 7: 106,741,791 V48L probably benign Het
Olfr761 T C 17: 37,952,742 Y94C probably damaging Het
Osm A T 11: 4,238,435 M21L probably benign Het
Otogl T A 10: 107,822,033 probably null Het
Otud4 T G 8: 79,666,773 S493A possibly damaging Het
Pars2 A G 4: 106,651,111 probably benign Het
Phlda3 T A 1: 135,766,819 V124E possibly damaging Het
Pias4 T C 10: 81,157,492 D199G probably damaging Het
Pm20d1 T C 1: 131,812,039 L375P probably benign Het
Pole2 T C 12: 69,226,365 I48V probably benign Het
Prrc2c T C 1: 162,710,481 R527G unknown Het
Rasgrf2 G T 13: 91,988,016 N592K probably damaging Het
Rbm7 A G 9: 48,495,174 L26P probably damaging Het
Rhag A G 17: 40,831,290 H208R probably benign Het
Rnf17 A G 14: 56,434,355 E268G probably damaging Het
Rnf220 A G 4: 117,289,055 V23A probably benign Het
Rnf7 A T 9: 96,478,419 V55D probably damaging Het
Sdr9c7 C A 10: 127,903,579 R188S possibly damaging Het
Senp6 T A 9: 80,089,858 N51K probably benign Het
Skint3 C A 4: 112,255,898 T235K possibly damaging Het
Slc10a5 A G 3: 10,335,036 F188S probably damaging Het
Slc41a1 G A 1: 131,830,952 G111R probably damaging Het
Snrnp48 C T 13: 38,221,323 R299W probably damaging Het
Sspo G A 6: 48,460,771 G1413D probably benign Het
Star T A 8: 25,808,616 H16Q probably damaging Het
Strc T C 2: 121,375,594 D779G probably benign Het
Sulf2 T C 2: 166,089,295 Y264C probably damaging Het
Supt7l A G 5: 31,522,904 S6P possibly damaging Het
Syne2 A G 12: 76,020,391 D4289G probably benign Het
Szrd1 A T 4: 141,139,690 probably null Het
Tada1 T C 1: 166,391,954 V275A possibly damaging Het
Tbr1 A T 2: 61,811,588 Y136F probably benign Het
Tbx20 T A 9: 24,725,714 H359L probably benign Het
Thbs4 G T 13: 92,762,806 D560E probably damaging Het
Tnfsf14 T C 17: 57,190,740 H164R probably damaging Het
Trmu T C 15: 85,882,805 S72P probably damaging Het
Tsnaxip1 C A 8: 105,833,523 Q36K probably benign Het
Ttc28 T A 5: 111,224,217 M844K possibly damaging Het
Tubgcp2 T C 7: 139,999,288 Y695C probably damaging Het
Ugt1a10 T A 1: 88,056,287 M269K probably damaging Het
Urb1 A T 16: 90,769,555 L1448* probably null Het
Vmn2r124 A T 17: 18,049,593 H37L probably damaging Het
Vmn2r44 T C 7: 8,367,950 N699S probably damaging Het
Vps35 A T 8: 85,278,857 probably null Het
Yipf1 G T 4: 107,336,199 probably null Het
Zfp395 A G 14: 65,386,541 N153S possibly damaging Het
Zfp395 A G 14: 65,393,207 D402G probably damaging Het
Zfp652 T C 11: 95,749,609 V120A probably damaging Het
Zp3r T C 1: 130,582,892 I364M probably damaging Het
Other mutations in Smarca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Smarca1 APN X 47858301 nonsense probably null
IGL01410:Smarca1 APN X 47892378 missense possibly damaging 0.66
IGL02085:Smarca1 APN X 47875232 missense probably damaging 1.00
IGL03342:Smarca1 APN X 47892269 missense probably damaging 0.96
R0599:Smarca1 UTSW X 47823426 missense probably benign 0.00
R0972:Smarca1 UTSW X 47849987 missense possibly damaging 0.84
R1902:Smarca1 UTSW X 47849963 nonsense probably null
R1903:Smarca1 UTSW X 47849963 nonsense probably null
R1968:Smarca1 UTSW X 47852687 missense probably damaging 1.00
R2264:Smarca1 UTSW X 47875283 missense probably benign 0.05
R7487:Smarca1 UTSW X 47876460 missense possibly damaging 0.78
X0017:Smarca1 UTSW X 47884088 missense probably null 0.09
Predicted Primers PCR Primer
(F):5'- CATAGAATGTGGTAGAAGCAGTCTA -3'
(R):5'- AAAAGCAACTCTTTCCCTTTCCC -3'

Sequencing Primer
(F):5'- TTGTTTGTTTGGTCGGTTGG -3'
(R):5'- CCCTCTCCTTTGTAAATTAGAAAGC -3'
Posted On2016-02-04