Incidental Mutation 'R7626:Smarcad1'
ID 589443
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 045690-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R7626 (G1)
Quality Score 186.009
Status Validated
Chromosome 6
Chromosomal Location 65019577-65093045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65073033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 604 (S604R)
Ref Sequence ENSEMBL: ENSMUSP00000031984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031984] [ENSMUST00000204620]
AlphaFold Q04692
Predicted Effect possibly damaging
Transcript: ENSMUST00000031984
AA Change: S604R

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: S604R

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 probably benign
Transcript: ENSMUST00000203411
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Alox5 T C 6: 116,390,756 (GRCm39) D465G possibly damaging Het
Arhgef16 T A 4: 154,367,339 (GRCm39) K355N possibly damaging Het
Camkk2 T A 5: 122,902,363 (GRCm39) probably benign Het
Ccdc171 C T 4: 83,499,012 (GRCm39) Q237* probably null Het
Ces2b T C 8: 105,564,017 (GRCm39) Y464H possibly damaging Het
Cntfr A G 4: 41,662,013 (GRCm39) F243S possibly damaging Het
Crip3 A T 17: 46,740,791 (GRCm39) R65S probably benign Het
Dcn A G 10: 97,319,340 (GRCm39) Y39C possibly damaging Het
Degs2 T C 12: 108,658,332 (GRCm39) S216G possibly damaging Het
Dmxl1 A G 18: 50,035,861 (GRCm39) I2295V probably benign Het
Dnah2 A G 11: 69,389,511 (GRCm39) S794P probably damaging Het
Eri1 A C 8: 35,941,554 (GRCm39) Y264* probably null Het
Etl4 T C 2: 20,718,189 (GRCm39) L179P probably damaging Het
F5 T G 1: 164,014,481 (GRCm39) M584R possibly damaging Het
Fam98c G T 7: 28,852,248 (GRCm39) R104S probably damaging Het
Flad1 A T 3: 89,310,718 (GRCm39) I443N probably benign Het
Hbp1 T C 12: 31,993,899 (GRCm39) E43G probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kcnj3 T A 2: 55,484,833 (GRCm39) C310* probably null Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Loxhd1 T C 18: 77,518,882 (GRCm39) V1896A possibly damaging Het
Lrfn4 C A 19: 4,663,679 (GRCm39) R285L probably damaging Het
Ltb4r2 T A 14: 56,000,338 (GRCm39) S320T probably damaging Het
Mmd G T 11: 90,148,378 (GRCm39) R20L probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nbas T C 12: 13,608,661 (GRCm39) S2146P probably benign Het
Nop14 A G 5: 34,809,135 (GRCm39) F319L probably damaging Het
Numa1 C A 7: 101,648,630 (GRCm39) T787K probably benign Het
Or10q12 T G 19: 13,745,709 (GRCm39) M1R probably null Het
Or2t46 A C 11: 58,471,999 (GRCm39) T110P probably damaging Het
Or6c208 T G 10: 129,223,726 (GRCm39) C75G possibly damaging Het
Patj T C 4: 98,435,224 (GRCm39) V2A probably benign Het
Pisd T C 5: 32,898,032 (GRCm39) H52R probably benign Het
Plekhg6 A T 6: 125,340,631 (GRCm39) D576E probably benign Het
Plekhn1 T A 4: 156,310,110 (GRCm39) H68L probably benign Het
Ppp1r37 T A 7: 19,295,778 (GRCm39) I60F probably damaging Het
Ppp2r1b C T 9: 50,789,476 (GRCm39) T513M possibly damaging Het
Pramel32 A T 4: 88,548,279 (GRCm39) I42N probably damaging Het
Rhobtb2 C A 14: 70,034,386 (GRCm39) A280S probably damaging Het
Rnf40 A G 7: 127,189,047 (GRCm39) D140G probably benign Het
Rxfp1 A G 3: 79,555,397 (GRCm39) L653P probably damaging Het
Satb1 A T 17: 52,074,995 (GRCm39) D500E probably benign Het
Slc15a1 A T 14: 121,713,377 (GRCm39) D383E probably benign Het
St7 A G 6: 17,934,216 (GRCm39) T533A probably damaging Het
Sv2c T A 13: 96,122,451 (GRCm39) T442S probably benign Het
Tbx2 A G 11: 85,731,622 (GRCm39) T640A probably benign Het
Tenm4 T A 7: 96,542,221 (GRCm39) N1948K probably damaging Het
Tll1 T C 8: 64,551,268 (GRCm39) probably null Het
Tmem135 A T 7: 88,805,718 (GRCm39) probably null Het
Tonsl A T 15: 76,518,136 (GRCm39) L582Q probably null Het
Unc13c T A 9: 73,641,799 (GRCm39) K1231N probably damaging Het
Vmn2r101 T A 17: 19,832,192 (GRCm39) Y729* probably null Het
Zcchc2 A G 1: 105,928,742 (GRCm39) T334A possibly damaging Het
Zfp655 T C 5: 145,173,917 (GRCm39) L136P probably damaging Het
Zfp729a A T 13: 67,768,437 (GRCm39) C597* probably null 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
R1005:Smarcad1 UTSW 6 65,085,711 (GRCm39) missense probably benign 0.30
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
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'- GGTGTCACACATGTACTTACATAGC -3'
(R):5'- AGTATGACAGTGGCCACAGG -3'

Sequencing Primer
(F):5'- AAAGACCACATTGTGTCC -3'
(R):5'- AAAGAACTTTAAAGGAAAAGCTTGC -3'
Posted On 2019-10-24