Incidental Mutation 'R5321:Scrt1'
ID 406121
Institutional Source Beutler Lab
Gene Symbol Scrt1
Ensembl Gene ENSMUSG00000048385
Gene Name scratch family zinc finger 1
Synonyms
MMRRC Submission 042904-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.699) question?
Stock # R5321 (G1)
Quality Score 212
Status Not validated
Chromosome 15
Chromosomal Location 76400403-76406329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76403370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 207 (S207G)
Ref Sequence ENSEMBL: ENSMUSP00000131152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096365] [ENSMUST00000164703]
AlphaFold Q99M85
Predicted Effect unknown
Transcript: ENSMUST00000096365
AA Change: S207G
SMART Domains Protein: ENSMUSP00000094093
Gene: ENSMUSG00000048385
AA Change: S207G

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: S207G
SMART Domains Protein: ENSMUSP00000131152
Gene: ENSMUSG00000048385
AA Change: S207G

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,218,651 (GRCm39) F72L probably benign Het
Btrc G A 19: 45,496,197 (GRCm39) V211M probably damaging Het
Col6a5 A T 9: 105,805,664 (GRCm39) Y1081N unknown Het
Cryzl1 T C 16: 91,504,118 (GRCm39) Y109C probably benign Het
Dlec1 T A 9: 118,941,669 (GRCm39) S352T probably benign Het
Dzip3 T G 16: 48,778,038 (GRCm39) T349P possibly damaging Het
Endou A G 15: 97,618,913 (GRCm39) V37A probably damaging Het
Exosc1 A T 19: 41,912,499 (GRCm39) C129* probably null Het
Flywch1 C G 17: 23,975,625 (GRCm39) R539P probably damaging Het
Gm14410 G A 2: 176,885,298 (GRCm39) T322I probably damaging Het
Lcor G T 19: 41,573,643 (GRCm39) W799C probably damaging Het
Lpin2 G A 17: 71,553,853 (GRCm39) V857M probably damaging Het
Or52ae9 T C 7: 103,389,862 (GRCm39) N195S probably damaging Het
Patl1 A G 19: 11,898,785 (GRCm39) Q160R probably damaging Het
Phtf1 C T 3: 103,910,827 (GRCm39) T606I probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Slc15a5 G T 6: 137,964,436 (GRCm39) N496K probably benign Het
Slc34a1 A T 13: 23,996,614 (GRCm39) I40F possibly damaging Het
Tdrd12 A C 7: 35,177,519 (GRCm39) V945G probably damaging Het
Tdrkh C A 3: 94,332,965 (GRCm39) L169I probably damaging Het
Tmem59l A G 8: 70,939,865 (GRCm39) C35R probably damaging Het
Tpte A T 8: 22,787,219 (GRCm39) R33* probably null Het
Trpv2 T A 11: 62,475,397 (GRCm39) L270H probably damaging Het
Utp18 A G 11: 93,757,260 (GRCm39) L468P probably damaging Het
Uxs1 A G 1: 43,844,805 (GRCm39) I51T probably damaging Het
Vmn1r20 C T 6: 57,409,427 (GRCm39) S251L probably benign Het
Vmn1r24 A T 6: 57,933,182 (GRCm39) L112* probably null Het
Vmn1r5 T C 6: 56,962,592 (GRCm39) L89P probably damaging Het
Vmn2r10 G T 5: 109,143,505 (GRCm39) A815E probably damaging Het
Zfp119a A T 17: 56,172,595 (GRCm39) L416H probably damaging Het
Other mutations in Scrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01695:Scrt1 APN 15 76,403,150 (GRCm39) missense unknown
R4676:Scrt1 UTSW 15 76,405,868 (GRCm39) missense possibly damaging 0.92
R5679:Scrt1 UTSW 15 76,403,262 (GRCm39) missense unknown
R7591:Scrt1 UTSW 15 76,403,694 (GRCm39) missense probably damaging 1.00
R7920:Scrt1 UTSW 15 76,403,417 (GRCm39) missense unknown
R8558:Scrt1 UTSW 15 76,403,843 (GRCm39) nonsense probably null
R8804:Scrt1 UTSW 15 76,403,411 (GRCm39) missense unknown
R8846:Scrt1 UTSW 15 76,405,808 (GRCm39) missense possibly damaging 0.84
R9507:Scrt1 UTSW 15 76,403,292 (GRCm39) missense unknown
Z1177:Scrt1 UTSW 15 76,403,114 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGGAAGTGCTTGAAGGC -3'
(R):5'- TTCTTCATCACTGACGGGC -3'

Sequencing Primer
(F):5'- ATATGGCCCTGCAGCAGC -3'
(R):5'- TGCTAATGCCAACGCTGC -3'
Posted On 2016-07-22