Incidental Mutation 'R1297:Sp5'
ID 158169
Institutional Source Beutler Lab
Gene Symbol Sp5
Ensembl Gene ENSMUSG00000075304
Gene Name trans-acting transcription factor 5
Synonyms
MMRRC Submission 039363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1297 (G1)
Quality Score 125
Status Validated
Chromosome 2
Chromosomal Location 70305267-70308070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70306873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000097620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100043]
AlphaFold Q9JHX2
Predicted Effect probably benign
Transcript: ENSMUST00000100043
AA Change: D186G

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097620
Gene: ENSMUSG00000075304
AA Change: D186G

DomainStartEndE-ValueType
low complexity region 143 157 N/A INTRINSIC
low complexity region 191 211 N/A INTRINSIC
low complexity region 224 235 N/A INTRINSIC
low complexity region 265 294 N/A INTRINSIC
ZnF_C2H2 296 320 2.14e0 SMART
ZnF_C2H2 326 350 1.4e-4 SMART
ZnF_C2H2 356 378 3.21e-4 SMART
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (37/37)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation in this gene are fertile and show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,820,834 (GRCm39) N542D possibly damaging Het
Ap2b1 T A 11: 83,223,935 (GRCm39) W217R probably damaging Het
Cep290 T A 10: 100,374,962 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Cyp2d12 A T 15: 82,441,887 (GRCm39) H109L probably benign Het
Dnah17 T C 11: 118,012,192 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gstt4 T A 10: 75,653,133 (GRCm39) N143I possibly damaging Het
Hdac2 G A 10: 36,862,370 (GRCm39) R78Q possibly damaging Het
Itsn2 T C 12: 4,750,378 (GRCm39) I1241T probably damaging Het
Kalrn T C 16: 33,836,868 (GRCm39) K2249R probably damaging Het
Klrg1 T A 6: 122,250,538 (GRCm39) I138F probably benign Het
Mast1 A G 8: 85,639,345 (GRCm39) V1328A probably benign Het
Mettl25 T C 10: 105,659,126 (GRCm39) S386G probably benign Het
Nme2 A T 11: 93,842,782 (GRCm39) N210K possibly damaging Het
Pgap1 T C 1: 54,567,682 (GRCm39) S388G possibly damaging Het
Pgk2 C A 17: 40,519,255 (GRCm39) V58L probably benign Het
Phf11 A T 14: 59,495,996 (GRCm39) H39Q probably benign Het
Pou6f1 T A 15: 100,476,186 (GRCm39) T292S probably damaging Het
Rbm5 G A 9: 107,621,441 (GRCm39) R15C probably damaging Het
Rnf215 T C 11: 4,089,806 (GRCm39) V273A possibly damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Safb2 T C 17: 56,891,265 (GRCm39) probably benign Het
Setdb1 A T 3: 95,257,187 (GRCm39) probably benign Het
Thada A G 17: 84,559,863 (GRCm39) probably benign Het
Tle1 A G 4: 72,043,075 (GRCm39) V598A probably damaging Het
Tnrc6c A G 11: 117,624,529 (GRCm39) N947S possibly damaging Het
Tnxb T C 17: 34,929,140 (GRCm39) S2728P probably damaging Het
Vmn1r13 A G 6: 57,187,392 (GRCm39) R184G probably damaging Het
Wdr24 C T 17: 26,046,322 (GRCm39) T522I possibly damaging Het
Zfyve16 A G 13: 92,658,840 (GRCm39) V357A probably benign Het
Other mutations in Sp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02083:Sp5 APN 2 70,306,758 (GRCm39) missense possibly damaging 0.70
R1857:Sp5 UTSW 2 70,307,213 (GRCm39) missense possibly damaging 0.68
R4244:Sp5 UTSW 2 70,307,382 (GRCm39) missense probably damaging 0.98
R5943:Sp5 UTSW 2 70,305,659 (GRCm39) missense probably null 0.00
R7072:Sp5 UTSW 2 70,307,074 (GRCm39) missense probably benign 0.09
R7341:Sp5 UTSW 2 70,307,041 (GRCm39) nonsense probably null
R8911:Sp5 UTSW 2 70,306,962 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACGAGTTCTCGCCGGTCAAGATG -3'
(R):5'- TTTGCCGTACACCTTGCCACAG -3'

Sequencing Primer
(F):5'- GGTCAAGATGCTGCCCTC -3'
(R):5'- TGGTACTGTGCAAAGTCCGAC -3'
Posted On 2014-02-18