Incidental Mutation 'R4642:Sac3d1'
ID 351705
Institutional Source Beutler Lab
Gene Symbol Sac3d1
Ensembl Gene ENSMUSG00000024790
Gene Name SAC3 domain containing 1
Synonyms 2410004C24Rik, Shd1
MMRRC Submission 041904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.476) question?
Stock # R4642 (G1)
Quality Score 199
Status Validated
Chromosome 19
Chromosomal Location 6166030-6168680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6166434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 325 (A325V)
Ref Sequence ENSEMBL: ENSMUSP00000109161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000044451] [ENSMUST00000113533] [ENSMUST00000154601]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025702
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
MIT 265 337 7.77e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044451
SMART Domains Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
Pfam:PA 163 256 3e-12 PFAM
Pfam:Peptidase_M28 353 564 1.3e-22 PFAM
low complexity region 579 592 N/A INTRINSIC
Pfam:TFR_dimer 621 740 4.5e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113533
AA Change: A325V

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790
AA Change: A325V

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Pfam:SAC3_GANP 134 356 7.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124964
Predicted Effect probably benign
Transcript: ENSMUST00000154601
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
Blast:MIT 222 251 4e-12 BLAST
Meta Mutation Damage Score 0.0957 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (46/48)
MGI Phenotype PHENOTYPE: Mice heterozygote for a null allele had increased numbers of myeloid and erythroid progenitor cells. Mice homozygote for a null allele had these features plus mild spleen and thymus hyperplasia, an increased T cell proliferative response, and enhanced IgM secretion by B cells to IL-5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 T C 8: 80,415,982 (GRCm39) T387A probably damaging Het
Acaca A T 11: 84,171,287 (GRCm39) T3S probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Cacna1g A G 11: 94,308,920 (GRCm39) I1631T probably damaging Het
Camk1g T A 1: 193,038,667 (GRCm39) D85V probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Ccbe1 A T 18: 66,424,654 (GRCm39) probably benign Het
Ccdc184 T G 15: 98,066,537 (GRCm39) V114G probably benign Het
Cpxm2 C T 7: 131,672,610 (GRCm39) R313H probably benign Het
Crebrf G T 17: 26,962,035 (GRCm39) E377D probably benign Het
Dcstamp T C 15: 39,618,118 (GRCm39) F176L probably benign Het
Dnah2 T C 11: 69,387,385 (GRCm39) D947G probably benign Het
Erbb4 A G 1: 68,289,791 (GRCm39) I750T probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm16391 T G 17: 76,591,826 (GRCm39) noncoding transcript Het
Gm973 A T 1: 59,597,273 (GRCm39) E434D probably damaging Het
Hdac7 T C 15: 97,704,397 (GRCm39) E491G probably damaging Het
Hyal5 A G 6: 24,876,621 (GRCm39) N165D probably benign Het
Ly86 A T 13: 37,560,877 (GRCm39) R79S possibly damaging Het
Mapk7 A G 11: 61,381,727 (GRCm39) I13T probably damaging Het
Medag T A 5: 149,335,444 (GRCm39) M1K probably null Het
Myh9 T C 15: 77,646,151 (GRCm39) D1944G probably benign Het
Nadk2 T C 15: 9,092,810 (GRCm39) W206R possibly damaging Het
Or7g18 T A 9: 18,787,463 (GRCm39) M280K probably damaging Het
Pcdhb11 T A 18: 37,555,021 (GRCm39) F117Y probably benign Het
Pdzd8 C T 19: 59,293,662 (GRCm39) E396K probably damaging Het
Piezo1 T A 8: 123,222,193 (GRCm39) Y541F probably damaging Het
Polr3h T C 15: 81,806,667 (GRCm39) I51V probably benign Het
Prune2 T C 19: 16,998,019 (GRCm39) probably null Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Rars2 T G 4: 34,656,229 (GRCm39) V461G probably damaging Het
Rasgrp3 T C 17: 75,805,443 (GRCm39) C145R possibly damaging Het
Ryr1 T C 7: 28,785,463 (GRCm39) T1743A possibly damaging Het
Shank1 A T 7: 43,962,565 (GRCm39) D93V unknown Het
Smg1 T C 7: 117,753,487 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,242,584 (GRCm39) N38I probably damaging Het
Ufc1 A G 1: 171,117,467 (GRCm39) I82T probably benign Het
Uggt2 A T 14: 119,272,347 (GRCm39) M434K probably benign Het
Unc80 G A 1: 66,710,873 (GRCm39) probably null Het
Zan T A 5: 137,462,450 (GRCm39) T910S unknown Het
Zfp64 A G 2: 168,776,851 (GRCm39) C256R probably benign Het
Other mutations in Sac3d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Sac3d1 UTSW 19 6,168,324 (GRCm39) missense probably damaging 0.99
R1555:Sac3d1 UTSW 19 6,168,435 (GRCm39) missense probably damaging 0.99
R3111:Sac3d1 UTSW 19 6,168,387 (GRCm39) missense probably benign 0.31
R7576:Sac3d1 UTSW 19 6,166,178 (GRCm39) missense probably damaging 0.98
R7869:Sac3d1 UTSW 19 6,168,456 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CCTCAGAGTATTGACCCCTCAG -3'
(R):5'- GCATCAAGCATCCTTGTGTC -3'

Sequencing Primer
(F):5'- GAGTATTGACCCCTCAGGAATAC -3'
(R):5'- TTCTGTGGAAGCCCTGCAG -3'
Posted On 2015-10-08