Incidental Mutation 'R3423:Sp9'
ID348334
Institutional Source Beutler Lab
Gene Symbol Sp9
Ensembl Gene ENSMUSG00000068859
Gene Nametrans-acting transcription factor 9
Synonyms
MMRRC Submission 040641-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.704) question?
Stock #R3423 (G1)
Quality Score68
Status Validated
Chromosome2
Chromosomal Location73271925-73284706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73273971 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 290 (A290T)
Ref Sequence ENSEMBL: ENSMUSP00000088322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090813]
Predicted Effect probably benign
Transcript: ENSMUST00000090813
AA Change: A290T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: A290T

DomainStartEndE-ValueType
low complexity region 53 65 N/A INTRINSIC
low complexity region 71 88 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 268 306 N/A INTRINSIC
ZnF_C2H2 332 356 2.63e0 SMART
ZnF_C2H2 362 386 1.84e-4 SMART
ZnF_C2H2 392 414 5.99e-4 SMART
low complexity region 416 427 N/A INTRINSIC
low complexity region 452 472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147133
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 A G 17: 32,316,455 F195S possibly damaging Het
Aldh3a1 G A 11: 61,215,536 A246T probably damaging Het
Caskin1 T A 17: 24,499,565 N331K probably damaging Het
Ceacam5 G A 7: 17,757,637 S644N possibly damaging Het
Csmd3 A T 15: 47,847,252 D1646E probably damaging Het
Cyp4a12a A C 4: 115,327,274 K282T probably benign Het
Dtnb C T 12: 3,591,962 R42* probably null Het
Dyrk3 A G 1: 131,129,482 I318T probably damaging Het
Fam160b2 G A 14: 70,586,585 T535M probably damaging Het
Gm11110 T C 17: 57,103,435 probably benign Het
Gm8674 T A 13: 49,901,756 noncoding transcript Het
Igfn1 A G 1: 135,998,641 S24P probably benign Het
Inpp4b A G 8: 81,952,261 M307V possibly damaging Het
Ism2 T C 12: 87,287,097 N58S probably benign Het
Kmt2a A C 9: 44,820,097 probably benign Het
Limk1 A G 5: 134,672,669 probably null Het
Lrrc14 T A 15: 76,713,118 probably null Het
Mapt C T 11: 104,298,722 R189* probably null Het
Meltf C T 16: 31,896,525 R679* probably null Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Mug2 T C 6: 122,047,506 probably benign Het
Myo15 G A 11: 60,510,300 probably null Het
Nup98 T C 7: 102,184,877 T293A probably benign Het
Nwd2 A T 5: 63,800,161 Y278F probably damaging Het
Olfr101 T A 17: 37,299,870 D184V probably benign Het
Phactr4 A C 4: 132,369,747 D496E probably benign Het
Pramel6 T A 2: 87,510,796 probably null Het
Ptprq C T 10: 107,582,476 A1680T probably damaging Het
Retnlb T A 16: 48,818,645 C70S probably damaging Het
Ros1 C A 10: 52,128,416 probably null Het
Sez6l T C 5: 112,426,749 D875G probably damaging Het
Slc18b1 T G 10: 23,822,976 M348R probably damaging Het
Slc36a3 G T 11: 55,142,781 T137K probably benign Het
Sos2 T C 12: 69,603,553 N865D probably damaging Het
Spg11 C T 2: 122,071,053 V1469I probably benign Het
Unc13c G T 9: 73,930,653 A972D possibly damaging Het
Vwa3a T C 7: 120,799,111 L945P probably damaging Het
Other mutations in Sp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03129:Sp9 APN 2 73273521 missense probably benign 0.00
R0604:Sp9 UTSW 2 73273638 missense probably benign 0.00
R0718:Sp9 UTSW 2 73273827 missense possibly damaging 0.70
R3747:Sp9 UTSW 2 73274308 missense probably damaging 0.98
R4335:Sp9 UTSW 2 73274289 missense probably damaging 1.00
R4873:Sp9 UTSW 2 73273618 missense possibly damaging 0.86
R4875:Sp9 UTSW 2 73273618 missense possibly damaging 0.86
R5341:Sp9 UTSW 2 73274514 missense possibly damaging 0.92
R5389:Sp9 UTSW 2 73274297 missense probably damaging 0.99
R5891:Sp9 UTSW 2 73274251 missense probably damaging 1.00
R6938:Sp9 UTSW 2 73273272 missense probably damaging 0.99
R7092:Sp9 UTSW 2 73273771 missense probably damaging 0.99
Z1088:Sp9 UTSW 2 73273230 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCATCTCCAAGGTGCACACG -3'
(R):5'- ACGTCTTGCCGTACACCTTG -3'

Sequencing Primer
(F):5'- CGTACGAGTCGTGGTACAAGTC -3'
(R):5'- GCCGTACACCTTGCCACAG -3'
Posted On2015-10-08