Incidental Mutation 'R1005:Smarcad1'
ID 95623
Institutional Source Beutler Lab
Gene Symbol Smarcad1
Ensembl Gene ENSMUSG00000029920
Gene Name SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Synonyms Etl1, D6Pas1
MMRRC Submission 039115-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1005 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 65019577-65093045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65085711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 890 (H890Y)
Ref Sequence ENSEMBL: ENSMUSP00000031984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031984] [ENSMUST00000204620]
AlphaFold Q04692
Predicted Effect probably benign
Transcript: ENSMUST00000031984
AA Change: H890Y

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: H890Y

DomainStartEndE-ValueType
low complexity region 17 37 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
low complexity region 143 156 N/A INTRINSIC
low complexity region 210 224 N/A INTRINSIC
low complexity region 233 244 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
DEXDc 488 682 2.58e-38 SMART
Blast:DEXDc 685 745 4e-16 BLAST
HELICc 879 962 4.58e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203104
Predicted Effect probably benign
Transcript: ENSMUST00000204620
SMART Domains Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920

DomainStartEndE-ValueType
low complexity region 17 37 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
Meta Mutation Damage Score 0.1224 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.5%
Validation Efficiency 100% (41/41)
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 SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(258) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(256)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,155,530 (GRCm39) D163G probably benign Het
Adck1 G A 12: 88,368,872 (GRCm39) V117M probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa6 A T 11: 54,892,044 (GRCm39) M304K possibly damaging Het
Aox1 A G 1: 58,104,511 (GRCm39) T563A probably benign Het
AW551984 G A 9: 39,505,029 (GRCm39) Q488* probably null Het
Cbx2 A G 11: 118,919,400 (GRCm39) R322G probably benign Het
Csmd1 T A 8: 16,338,707 (GRCm39) T467S probably damaging Het
Cspg4 A G 9: 56,796,020 (GRCm39) I1252V probably benign Het
Enah A T 1: 181,789,495 (GRCm39) probably benign Het
Fam171a2 T C 11: 102,331,007 (GRCm39) M185V probably benign Het
Flt1 G T 5: 147,618,695 (GRCm39) N213K probably damaging Het
Fpr-rs3 T C 17: 20,844,346 (GRCm39) N265S probably benign Het
Gbp2 T C 3: 142,336,262 (GRCm39) probably benign Het
Gm6871 A T 7: 41,195,682 (GRCm39) C352S probably damaging Het
Gm9742 T C 13: 8,085,251 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,840,921 (GRCm39) I18T possibly damaging Het
Kel T C 6: 41,665,551 (GRCm39) Y523C probably damaging Het
Klk1b8 T A 7: 43,603,758 (GRCm39) C198* probably null Het
Mc3r A G 2: 172,091,483 (GRCm39) H235R probably benign Het
Nr0b2 G T 4: 133,280,785 (GRCm39) R17L probably benign Het
Or1a1b A G 11: 74,097,962 (GRCm39) F27L probably benign Het
Prl7a1 G A 13: 27,826,429 (GRCm39) P2L possibly damaging Het
Prrt3 G A 6: 113,471,739 (GRCm39) A811V probably damaging Het
Rab28 A G 5: 41,855,726 (GRCm39) probably benign Het
Rhobtb2 A G 14: 70,035,726 (GRCm39) L115P probably damaging Het
Robo4 A G 9: 37,319,547 (GRCm39) E599G probably damaging Het
Ros1 T A 10: 52,004,501 (GRCm39) probably benign Het
Slc22a27 A T 19: 7,904,116 (GRCm39) L7Q probably damaging Het
Slfn5 T A 11: 82,850,984 (GRCm39) L427H probably damaging Het
Snx31 A G 15: 36,517,837 (GRCm39) probably benign Het
Sptb C T 12: 76,648,633 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Ston2 T C 12: 91,615,622 (GRCm39) D262G possibly damaging Het
Trank1 T G 9: 111,162,789 (GRCm39) M16R probably benign Het
Trrap A G 5: 144,742,537 (GRCm39) E1385G probably damaging Het
Ttc8 T C 12: 98,903,403 (GRCm39) S47P probably benign Het
Other mutations in Smarcad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Smarcad1 APN 6 65,050,223 (GRCm39) missense probably damaging 1.00
IGL02707:Smarcad1 APN 6 65,029,790 (GRCm39) unclassified probably benign
IGL03006:Smarcad1 APN 6 65,060,873 (GRCm39) missense probably benign 0.01
IGL03131:Smarcad1 APN 6 65,051,937 (GRCm39) missense probably damaging 0.96
IGL03406:Smarcad1 APN 6 65,069,510 (GRCm39) missense probably damaging 0.98
Trollip UTSW 6 65,091,320 (GRCm39) missense probably damaging 1.00
wastrel UTSW 6 65,029,654 (GRCm39) missense probably damaging 1.00
N/A - 293:Smarcad1 UTSW 6 65,051,898 (GRCm39) missense probably benign 0.06
R0020:Smarcad1 UTSW 6 65,060,991 (GRCm39) splice site probably benign
R0452:Smarcad1 UTSW 6 65,051,806 (GRCm39) missense possibly damaging 0.66
R1143:Smarcad1 UTSW 6 65,073,678 (GRCm39) missense probably benign 0.02
R1624:Smarcad1 UTSW 6 65,029,631 (GRCm39) missense probably benign 0.40
R1629:Smarcad1 UTSW 6 65,044,091 (GRCm39) missense probably benign 0.00
R1705:Smarcad1 UTSW 6 65,033,400 (GRCm39) missense probably damaging 1.00
R2000:Smarcad1 UTSW 6 65,050,200 (GRCm39) missense probably damaging 1.00
R2979:Smarcad1 UTSW 6 65,051,995 (GRCm39) missense probably benign 0.00
R3937:Smarcad1 UTSW 6 65,091,320 (GRCm39) missense probably damaging 1.00
R4391:Smarcad1 UTSW 6 65,033,443 (GRCm39) missense probably benign 0.17
R4648:Smarcad1 UTSW 6 65,044,073 (GRCm39) missense probably benign 0.04
R4697:Smarcad1 UTSW 6 65,029,625 (GRCm39) missense probably benign 0.00
R4709:Smarcad1 UTSW 6 65,052,099 (GRCm39) missense probably benign 0.01
R4726:Smarcad1 UTSW 6 65,052,025 (GRCm39) missense probably damaging 1.00
R4776:Smarcad1 UTSW 6 65,075,808 (GRCm39) missense probably null 1.00
R4928:Smarcad1 UTSW 6 65,051,898 (GRCm39) missense probably benign 0.06
R5619:Smarcad1 UTSW 6 65,088,865 (GRCm39) missense probably benign 0.03
R5709:Smarcad1 UTSW 6 65,051,746 (GRCm39) missense probably benign 0.01
R6038:Smarcad1 UTSW 6 65,050,232 (GRCm39) missense possibly damaging 0.91
R6038:Smarcad1 UTSW 6 65,050,232 (GRCm39) missense possibly damaging 0.91
R6220:Smarcad1 UTSW 6 65,091,313 (GRCm39) missense probably benign 0.09
R6302:Smarcad1 UTSW 6 65,052,122 (GRCm39) missense possibly damaging 0.93
R7014:Smarcad1 UTSW 6 65,029,654 (GRCm39) missense probably damaging 1.00
R7149:Smarcad1 UTSW 6 65,029,716 (GRCm39) missense probably benign 0.11
R7378:Smarcad1 UTSW 6 65,087,360 (GRCm39) missense probably benign 0.16
R7569:Smarcad1 UTSW 6 65,029,695 (GRCm39) missense probably benign 0.11
R7626:Smarcad1 UTSW 6 65,073,033 (GRCm39) missense possibly damaging 0.71
R7774:Smarcad1 UTSW 6 65,084,814 (GRCm39) missense probably damaging 1.00
R8079:Smarcad1 UTSW 6 65,029,766 (GRCm39) missense possibly damaging 0.51
R8119:Smarcad1 UTSW 6 65,071,303 (GRCm39) missense probably benign
R8129:Smarcad1 UTSW 6 65,044,078 (GRCm39) missense probably benign 0.09
R8558:Smarcad1 UTSW 6 65,060,908 (GRCm39) missense probably benign 0.09
R8679:Smarcad1 UTSW 6 65,088,865 (GRCm39) missense probably benign 0.03
R8770:Smarcad1 UTSW 6 65,029,718 (GRCm39) missense probably benign
R8795:Smarcad1 UTSW 6 65,049,033 (GRCm39) missense probably benign 0.10
R9104:Smarcad1 UTSW 6 65,075,649 (GRCm39) missense probably benign 0.06
R9133:Smarcad1 UTSW 6 65,049,035 (GRCm39) missense probably damaging 0.99
R9400:Smarcad1 UTSW 6 65,050,214 (GRCm39) missense probably damaging 0.97
R9401:Smarcad1 UTSW 6 65,071,321 (GRCm39) missense probably benign 0.00
R9608:Smarcad1 UTSW 6 65,091,318 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGACCTATTTCTTCAAAGGACTCTGC -3'
(R):5'- GAATAACAATTCAagccgggcgtg -3'

Sequencing Primer
(F):5'- CTTCAAAGGACTCTGCAATTTGTATG -3'
(R):5'- gaggcagaggcaggtgg -3'
Posted On 2014-01-05