Incidental Mutation 'IGL01695:Scrt1'
ID 104257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrt1
Ensembl Gene ENSMUSG00000048385
Gene Name scratch family zinc finger 1
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.672) question?
Stock # IGL01695
Quality Score
Status
Chromosome 15
Chromosomal Location 76516203-76522499 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76518950 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 280 (H280L)
Ref Sequence ENSEMBL: ENSMUSP00000131152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096365] [ENSMUST00000164703]
AlphaFold Q99M85
Predicted Effect unknown
Transcript: ENSMUST00000096365
AA Change: H280L
SMART Domains Protein: ENSMUSP00000094093
Gene: ENSMUSG00000048385
AA Change: H280L

DomainStartEndE-ValueType
low complexity region 78 92 N/A INTRINSIC
ZnF_C2H2 191 213 9.58e-3 SMART
ZnF_C2H2 222 244 5.06e-2 SMART
ZnF_C2H2 248 270 6.42e-4 SMART
ZnF_C2H2 276 298 7.9e-4 SMART
ZnF_C2H2 304 324 3.47e1 SMART
low complexity region 330 341 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000164703
AA Change: H280L
SMART Domains Protein: ENSMUSP00000131152
Gene: ENSMUSG00000048385
AA Change: H280L

DomainStartEndE-ValueType
low complexity region 78 92 N/A INTRINSIC
ZnF_C2H2 191 213 9.58e-3 SMART
ZnF_C2H2 222 244 5.06e-2 SMART
ZnF_C2H2 248 270 6.42e-4 SMART
ZnF_C2H2 276 298 7.9e-4 SMART
ZnF_C2H2 304 324 3.47e1 SMART
low complexity region 330 341 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Scrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4676:Scrt1 UTSW 15 76521668 missense possibly damaging 0.92
R5321:Scrt1 UTSW 15 76519170 missense unknown
R5679:Scrt1 UTSW 15 76519062 missense unknown
R7591:Scrt1 UTSW 15 76519494 missense probably damaging 1.00
R7920:Scrt1 UTSW 15 76519217 missense unknown
R8558:Scrt1 UTSW 15 76519643 nonsense probably null
R8804:Scrt1 UTSW 15 76519211 missense unknown
R8846:Scrt1 UTSW 15 76521608 missense possibly damaging 0.84
R9507:Scrt1 UTSW 15 76519092 missense unknown
Z1177:Scrt1 UTSW 15 76518914 missense unknown
Posted On 2014-01-21