Incidental Mutation 'R0678:Sp6'
ID 61708
Institutional Source Beutler Lab
Gene Symbol Sp6
Ensembl Gene ENSMUSG00000038560
Gene Name trans-acting transcription factor 6
Synonyms Epfn, Klf14, epiprofin, 1110025J03Rik
MMRRC Submission 038863-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R0678 (G1)
Quality Score 102
Status Not validated
Chromosome 11
Chromosomal Location 96904395-96915565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96912607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 107 (W107R)
Ref Sequence ENSEMBL: ENSMUSP00000103248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047997] [ENSMUST00000107622]
AlphaFold Q9ESX2
Predicted Effect probably damaging
Transcript: ENSMUST00000047997
AA Change: W107R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039307
Gene: ENSMUSG00000038560
AA Change: W107R

DomainStartEndE-ValueType
low complexity region 163 177 N/A INTRINSIC
ZnF_C2H2 254 278 3.99e0 SMART
ZnF_C2H2 284 308 2.99e-4 SMART
ZnF_C2H2 314 336 3.16e-3 SMART
low complexity region 337 364 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107622
AA Change: W107R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103248
Gene: ENSMUSG00000038560
AA Change: W107R

DomainStartEndE-ValueType
low complexity region 163 177 N/A INTRINSIC
ZnF_C2H2 254 278 3.99e0 SMART
ZnF_C2H2 284 308 2.99e-4 SMART
ZnF_C2H2 314 336 3.16e-3 SMART
low complexity region 337 364 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128111
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a disruption at this locus display impaired skin, hair follicle, tooth and lung development as well as limb abnormalities and partial postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Egfl7 C T 2: 26,480,952 (GRCm39) R155C probably benign Het
Fat4 T C 3: 38,943,843 (GRCm39) I912T probably damaging Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
H2-T24 A T 17: 36,328,333 (GRCm39) F50Y probably damaging Het
Hif1a A G 12: 73,990,965 (GRCm39) probably null Het
Ints11 T C 4: 155,972,210 (GRCm39) I405T probably damaging Het
Kmt2d A T 15: 98,748,294 (GRCm39) probably benign Het
Pld1 T A 3: 28,174,933 (GRCm39) V857D probably damaging Het
Ptgr3 A G 18: 84,113,287 (GRCm39) E321G probably benign Het
Rab11fip3 G A 17: 26,287,821 (GRCm39) P111S probably benign Het
Rad17 A T 13: 100,781,692 (GRCm39) I35N possibly damaging Het
Rnf31 C A 14: 55,839,170 (GRCm39) Y66* probably null Het
Sec31a T C 5: 100,555,084 (GRCm39) I45M possibly damaging Het
Sele T C 1: 163,882,298 (GRCm39) probably null Het
Serpina3i G T 12: 104,232,978 (GRCm39) probably null Het
Sphkap A T 1: 83,256,349 (GRCm39) W467R probably benign Het
Thbs1 T C 2: 117,953,387 (GRCm39) F935L probably damaging Het
Vmn2r8 T A 5: 108,948,412 (GRCm39) H492L probably benign Het
Xrcc2 A G 5: 25,903,261 (GRCm39) S37P possibly damaging Het
Zfand1 T A 3: 10,413,577 (GRCm39) I31L probably benign Het
Zfr G A 15: 12,184,171 (GRCm39) D1058N probably damaging Het
Other mutations in Sp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Sp6 APN 11 96,913,429 (GRCm39) utr 3 prime probably benign
R0281:Sp6 UTSW 11 96,912,751 (GRCm39) missense probably benign 0.24
R0326:Sp6 UTSW 11 96,912,361 (GRCm39) missense possibly damaging 0.90
R0584:Sp6 UTSW 11 96,913,091 (GRCm39) missense probably damaging 1.00
R0690:Sp6 UTSW 11 96,912,370 (GRCm39) missense possibly damaging 0.89
R1909:Sp6 UTSW 11 96,912,334 (GRCm39) missense probably benign 0.04
R1950:Sp6 UTSW 11 96,912,940 (GRCm39) missense probably benign 0.14
R3697:Sp6 UTSW 11 96,912,580 (GRCm39) missense possibly damaging 0.86
R4380:Sp6 UTSW 11 96,912,572 (GRCm39) missense probably damaging 0.98
R4666:Sp6 UTSW 11 96,912,701 (GRCm39) missense probably benign 0.19
R8701:Sp6 UTSW 11 96,913,090 (GRCm39) missense probably damaging 1.00
X0011:Sp6 UTSW 11 96,913,351 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AATGCTAACCGCTGTCTGTGGCTC -3'
(R):5'- AATCCAGCCCTTGGGACTCTTGTG -3'

Sequencing Primer
(F):5'- TCTCCAGACATACCAGGGTC -3'
(R):5'- CAGAAGGTGCTGCCCAC -3'
Posted On 2013-07-30