Incidental Mutation 'R1555:Sac3d1'
ID 170243
Institutional Source Beutler Lab
Gene Symbol Sac3d1
Ensembl Gene ENSMUSG00000024790
Gene Name SAC3 domain containing 1
Synonyms 2410004C24Rik, Shd1
MMRRC Submission 039594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.476) question?
Stock # R1555 (G1)
Quality Score 84
Status Validated
Chromosome 19
Chromosomal Location 6166030-6168680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6168435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 61 (D61G)
Ref Sequence ENSEMBL: ENSMUSP00000109161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000044451] [ENSMUST00000113533] [ENSMUST00000138931] [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 probably damaging
Transcript: ENSMUST00000113533
AA Change: D61G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790
AA Change: D61G

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 noncoding transcript
Transcript: ENSMUST00000129076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150718
Predicted Effect probably benign
Transcript: ENSMUST00000138931
SMART Domains Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 112 1.69e-14 SMART
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 0.1105 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 96% (43/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,865,727 (GRCm39) probably null Het
Adamts1 T A 16: 85,594,776 (GRCm39) T358S probably benign Het
Ate1 A T 7: 130,110,821 (GRCm39) F169I probably benign Het
Cdkl4 T A 17: 80,851,043 (GRCm39) probably benign Het
Clcnkb T C 4: 141,139,050 (GRCm39) probably null Het
Col6a4 C T 9: 105,878,085 (GRCm39) R1964Q possibly damaging Het
Dcakd C T 11: 102,891,039 (GRCm39) V17I probably damaging Het
Dcdc5 T G 2: 106,214,480 (GRCm39) noncoding transcript Het
Erc2 T A 14: 27,733,622 (GRCm39) D557E probably damaging Het
Grid2 A T 6: 64,406,668 (GRCm39) D676V possibly damaging Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Igkv10-96 C T 6: 68,609,365 (GRCm39) probably benign Het
Mier3 T A 13: 111,844,893 (GRCm39) N248K probably damaging Het
Myo5b A T 18: 74,702,853 (GRCm39) I15F probably damaging Het
Neurl3 A G 1: 36,305,613 (GRCm39) V198A probably benign Het
Notch2 C A 3: 98,038,656 (GRCm39) N1266K possibly damaging Het
Nup107 A G 10: 117,587,395 (GRCm39) probably benign Het
Or52e8b T C 7: 104,673,729 (GRCm39) I153V probably benign Het
Or6d14 A T 6: 116,533,787 (GRCm39) I134F probably damaging Het
Phf3 G T 1: 30,844,958 (GRCm39) H1334N possibly damaging Het
Phyhd1 T A 2: 30,164,718 (GRCm39) I100N probably damaging Het
Rad21l T A 2: 151,500,348 (GRCm39) T224S probably benign Het
Rxra C T 2: 27,638,690 (GRCm39) A231V probably benign Het
Sbf1 A G 15: 89,189,279 (GRCm39) Y481H probably damaging Het
Spg11 T C 2: 121,927,858 (GRCm39) E642G probably damaging Het
Spta1 A G 1: 174,006,315 (GRCm39) Y159C probably damaging Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tedc1 G T 12: 113,120,117 (GRCm39) probably benign Het
Tmem200a A T 10: 25,869,782 (GRCm39) D162E probably damaging Het
Tmprss11e T A 5: 86,863,447 (GRCm39) Q206L probably damaging Het
Tpra1 A G 6: 88,887,185 (GRCm39) N175S probably damaging Het
Ttll10 T C 4: 156,119,596 (GRCm39) E601G probably benign Het
Ttll6 G T 11: 96,036,408 (GRCm39) D346Y probably damaging Het
U2surp A G 9: 95,348,630 (GRCm39) V874A probably damaging Het
Vwa5b1 T C 4: 138,332,788 (GRCm39) K258R probably benign Het
Xkr6 A G 14: 64,056,374 (GRCm39) Y95C unknown Het
Zfp180 T C 7: 23,800,999 (GRCm39) probably benign Het
Zfp90 A G 8: 107,150,727 (GRCm39) T147A probably benign Het
Other mutations in Sac3d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Sac3d1 UTSW 19 6,168,324 (GRCm39) missense probably damaging 0.99
R3111:Sac3d1 UTSW 19 6,168,387 (GRCm39) missense probably benign 0.31
R4642:Sac3d1 UTSW 19 6,166,434 (GRCm39) missense possibly damaging 0.91
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'- ATAACGCACGGTGGCTAAGAGC -3'
(R):5'- TGCATCATGGGACGATTTAAGGGG -3'

Sequencing Primer
(F):5'- TGGCTAAGAGCACTGGCG -3'
(R):5'- CGATTTAAGGGGGAAAACCG -3'
Posted On 2014-04-13