Incidental Mutation 'IGL03342:Smarca1'
ID 417295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarca1
Ensembl Gene ENSMUSG00000031099
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
Synonyms Snf2l, 5730494M04Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # IGL03342
Quality Score
Status
Chromosome X
Chromosomal Location 46898247-46981490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46981146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 84 (A84D)
Ref Sequence ENSEMBL: ENSMUSP00000116209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077569] [ENSMUST00000088973] [ENSMUST00000101616] [ENSMUST00000141084] [ENSMUST00000153548] [ENSMUST00000153587]
AlphaFold Q6PGB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000077569
AA Change: A43D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076769
Gene: ENSMUSG00000031099
AA Change: A43D

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 possibly damaging
Transcript: ENSMUST00000088973
AA Change: A43D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086366
Gene: ENSMUSG00000031099
AA Change: A43D

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 possibly damaging
Transcript: ENSMUST00000101616
AA Change: A43D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099138
Gene: ENSMUSG00000031099
AA Change: A43D

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 noncoding transcript
Transcript: ENSMUST00000140756
Predicted Effect probably damaging
Transcript: ENSMUST00000141084
AA Change: A43D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135570
Gene: ENSMUSG00000031099
AA Change: A43D

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 benign
Transcript: ENSMUST00000153548
AA Change: A43D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114296
Gene: ENSMUSG00000031099
AA Change: A43D

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 damaging
Transcript: ENSMUST00000153587
AA Change: A84D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116209
Gene: ENSMUSG00000031099
AA Change: A84D

DomainStartEndE-ValueType
low complexity region 76 99 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,178,517 (GRCm39) T1152M possibly damaging Het
Abcg2 G T 6: 58,642,120 (GRCm39) R136I probably damaging Het
Acap2 A G 16: 30,924,310 (GRCm39) V641A probably damaging Het
Afg3l2 A T 18: 67,540,390 (GRCm39) D706E probably benign Het
Bbs1 A T 19: 4,947,621 (GRCm39) L311Q probably damaging Het
Cacna1e A G 1: 154,342,690 (GRCm39) probably null Het
Car2 A T 3: 14,960,629 (GRCm39) D129V probably benign Het
Catsper2 T C 2: 121,237,217 (GRCm39) I228V probably damaging Het
Cdhr3 C A 12: 33,101,054 (GRCm39) R452M probably benign Het
Chrm1 A T 19: 8,656,672 (GRCm39) Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 (GRCm39) probably benign Het
Coa7 A G 4: 108,189,426 (GRCm39) D42G probably damaging Het
Ctsz T C 2: 174,270,933 (GRCm39) Y187C possibly damaging Het
Cxcr6 C T 9: 123,639,472 (GRCm39) Q165* probably null Het
Cyp3a11 G A 5: 145,791,927 (GRCm39) P489S probably damaging Het
Cyp4f15 A T 17: 32,916,910 (GRCm39) I276F probably damaging Het
Dsg1b T A 18: 20,542,517 (GRCm39) M1008K probably benign Het
Dsg4 T A 18: 20,584,880 (GRCm39) I198N probably damaging Het
Dtymk C A 1: 93,722,541 (GRCm39) E87D probably benign Het
Dysf T A 6: 84,167,854 (GRCm39) D1749E probably benign Het
Dzip3 G T 16: 48,749,986 (GRCm39) Q1050K probably damaging Het
Echs1 C T 7: 139,690,026 (GRCm39) probably benign Het
Enc1 T A 13: 97,382,978 (GRCm39) I496N possibly damaging Het
Epc2 A T 2: 49,426,658 (GRCm39) Y139F probably benign Het
Exo1 A T 1: 175,719,693 (GRCm39) N246I probably benign Het
Flg2 A G 3: 93,108,542 (GRCm39) K190R probably damaging Het
Gm5424 A T 10: 61,907,971 (GRCm39) noncoding transcript Het
Gpbp1l1 A C 4: 116,431,740 (GRCm39) T133P probably benign Het
Gpr155 A G 2: 73,180,022 (GRCm39) F146S probably damaging Het
Grm1 T A 10: 10,955,715 (GRCm39) I190L probably benign Het
Hif3a C T 7: 16,775,047 (GRCm39) R515H possibly damaging Het
Itprid2 G A 2: 79,490,796 (GRCm39) M971I probably damaging Het
Kdm5b G A 1: 134,530,314 (GRCm39) D442N probably benign Het
Manba A T 3: 135,223,748 (GRCm39) I212F possibly damaging Het
Map3k13 A G 16: 21,710,981 (GRCm39) E88G possibly damaging Het
Mapk7 A G 11: 61,382,216 (GRCm39) L163P probably damaging Het
Med1 A T 11: 98,080,006 (GRCm39) probably null Het
Mtrf1 T A 14: 79,653,312 (GRCm39) probably null Het
Mtrf1 A G 14: 79,653,420 (GRCm39) D365G possibly damaging Het
Mtrf1 C T 14: 79,653,311 (GRCm39) probably benign Het
Myadm C T 7: 3,345,403 (GRCm39) T55I possibly damaging Het
Nlgn1 A T 3: 26,187,411 (GRCm39) I158N probably damaging Het
Nlrc4 A G 17: 74,752,313 (GRCm39) L690P probably damaging Het
Nlrp1a A T 11: 71,013,617 (GRCm39) D544E probably benign Het
Nlrp2 A T 7: 5,320,482 (GRCm39) L20Q probably damaging Het
Or1e30 T A 11: 73,678,309 (GRCm39) S182T probably benign Het
Or8k21 A T 2: 86,145,579 (GRCm39) I17N possibly damaging Het
Or9i16 A G 19: 13,864,801 (GRCm39) Y258H probably damaging Het
Padi3 G A 4: 140,537,909 (GRCm39) Q4* probably null Het
Pfkl A T 10: 77,841,309 (GRCm39) I13K possibly damaging Het
Pinx1 A G 14: 64,157,018 (GRCm39) D315G probably benign Het
Prickle3 A G X: 7,529,735 (GRCm39) D47G probably benign Het
Psmd10 A T X: 139,857,403 (GRCm39) V5E probably damaging Het
Rasgrf2 C A 13: 92,136,098 (GRCm39) V605F probably damaging Het
Sp2 A G 11: 96,852,588 (GRCm39) V112A probably damaging Het
Srgap3 G A 6: 112,752,648 (GRCm39) R279C probably damaging Het
Trav21-dv12 T C 14: 54,113,501 (GRCm39) L10P unknown Het
Vmn1r236 A T 17: 21,507,236 (GRCm39) H118L probably benign Het
Vmn2r120 A G 17: 57,816,372 (GRCm39) M661T probably benign Het
Vmn2r17 A T 5: 109,575,782 (GRCm39) I218F probably damaging Het
Vmn2r41 G T 7: 8,141,682 (GRCm39) A594D probably damaging Het
Zc2hc1a A G 3: 7,589,283 (GRCm39) E103G possibly damaging Het
Zfp62 G T 11: 49,106,298 (GRCm39) G130* probably null Het
Other mutations in Smarca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Smarca1 APN X 46,947,178 (GRCm39) nonsense probably null
IGL01410:Smarca1 APN X 46,981,255 (GRCm39) missense possibly damaging 0.66
IGL02085:Smarca1 APN X 46,964,109 (GRCm39) missense probably damaging 1.00
R0599:Smarca1 UTSW X 46,912,303 (GRCm39) missense probably benign 0.00
R0972:Smarca1 UTSW X 46,938,864 (GRCm39) missense possibly damaging 0.84
R1902:Smarca1 UTSW X 46,938,840 (GRCm39) nonsense probably null
R1903:Smarca1 UTSW X 46,938,840 (GRCm39) nonsense probably null
R1968:Smarca1 UTSW X 46,941,564 (GRCm39) missense probably damaging 1.00
R2264:Smarca1 UTSW X 46,964,160 (GRCm39) missense probably benign 0.05
R4790:Smarca1 UTSW X 46,972,944 (GRCm39) missense probably null 0.27
X0017:Smarca1 UTSW X 46,972,965 (GRCm39) missense probably null 0.09
Posted On 2016-08-02