Incidental Mutation 'R4428:Sp8'
ID 328288
Institutional Source Beutler Lab
Gene Symbol Sp8
Ensembl Gene ENSMUSG00000048562
Gene Name trans-acting transcription factor 8
Synonyms mBtd, D930049B17Rik
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.704) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 118810064-118816311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118812938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 264 (S264R)
Ref Sequence ENSEMBL: ENSMUSP00000065746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063918] [ENSMUST00000223305]
AlphaFold Q8BMJ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000063918
AA Change: S264R

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: S264R

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
low complexity region 36 60 N/A INTRINSIC
low complexity region 95 119 N/A INTRINSIC
low complexity region 132 149 N/A INTRINSIC
low complexity region 197 209 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
ZnF_C2H2 356 380 2.63e0 SMART
ZnF_C2H2 386 410 1.84e-4 SMART
ZnF_C2H2 416 438 7.9e-4 SMART
low complexity region 439 454 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223305
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, and neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Sp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Sp8 APN 12 118,812,705 (GRCm39) missense probably damaging 1.00
IGL01783:Sp8 APN 12 118,812,759 (GRCm39) missense probably benign 0.01
IGL02745:Sp8 APN 12 118,813,326 (GRCm39) missense probably damaging 0.97
R0506:Sp8 UTSW 12 118,812,300 (GRCm39) missense possibly damaging 0.73
R0699:Sp8 UTSW 12 118,812,555 (GRCm39) small deletion probably benign
R1742:Sp8 UTSW 12 118,813,552 (GRCm39) missense probably benign 0.04
R1771:Sp8 UTSW 12 118,813,302 (GRCm39) missense probably damaging 1.00
R1776:Sp8 UTSW 12 118,813,302 (GRCm39) missense probably damaging 1.00
R1791:Sp8 UTSW 12 118,812,751 (GRCm39) missense possibly damaging 0.84
R1926:Sp8 UTSW 12 118,812,964 (GRCm39) missense possibly damaging 0.55
R2159:Sp8 UTSW 12 118,812,441 (GRCm39) missense possibly damaging 0.83
R2223:Sp8 UTSW 12 118,813,473 (GRCm39) missense probably damaging 0.99
R2304:Sp8 UTSW 12 118,812,304 (GRCm39) missense possibly damaging 0.92
R3777:Sp8 UTSW 12 118,812,750 (GRCm39) missense possibly damaging 0.84
R3778:Sp8 UTSW 12 118,812,750 (GRCm39) missense possibly damaging 0.84
R3779:Sp8 UTSW 12 118,812,750 (GRCm39) missense possibly damaging 0.84
R4323:Sp8 UTSW 12 118,812,171 (GRCm39) missense probably benign 0.33
R4360:Sp8 UTSW 12 118,812,400 (GRCm39) missense possibly damaging 0.90
R4883:Sp8 UTSW 12 118,812,805 (GRCm39) missense probably damaging 0.98
R4982:Sp8 UTSW 12 118,812,160 (GRCm39) missense probably damaging 0.99
R5053:Sp8 UTSW 12 118,813,339 (GRCm39) missense probably damaging 1.00
R5347:Sp8 UTSW 12 118,812,246 (GRCm39) missense possibly damaging 0.91
R5755:Sp8 UTSW 12 118,812,822 (GRCm39) missense probably damaging 0.96
R6219:Sp8 UTSW 12 118,812,402 (GRCm39) missense probably benign 0.27
R7672:Sp8 UTSW 12 118,813,070 (GRCm39) missense possibly damaging 0.47
R7793:Sp8 UTSW 12 118,813,144 (GRCm39) missense probably damaging 0.98
R8548:Sp8 UTSW 12 118,812,910 (GRCm39) missense possibly damaging 0.93
R8990:Sp8 UTSW 12 118,813,122 (GRCm39) missense possibly damaging 0.95
R9139:Sp8 UTSW 12 118,812,174 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTCCTGGTTCAAGCCTTC -3'
(R):5'- ACGTCTTGCCGTACACCTTG -3'

Sequencing Primer
(F):5'- GGTTCAAGCCTTCGCACC -3'
(R):5'- CCGGGATGTGGCAGCTATG -3'
Posted On 2015-07-07