Incidental Mutation 'R2346:Gm12588'
ID 245957
Institutional Source Beutler Lab
Gene Symbol Gm12588
Ensembl Gene
Gene Name predicted gene 12588
Synonyms
MMRRC Submission 040329-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2346 (G1)
Quality Score 195
Status Validated
Chromosome 11
Chromosomal Location (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121796994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 285 (Y285C)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000142242
AA Change: Y285C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000118445
Gene: ENSMUSG00000062632
AA Change: Y285C

DomainStartEndE-ValueType
KRAB 4 60 1.43e-10 SMART
ZnF_C2H2 131 153 5.77e0 SMART
ZnF_C2H2 159 181 5.9e-3 SMART
ZnF_C2H2 187 209 2.09e-3 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 243 265 2.43e-4 SMART
ZnF_C2H2 271 293 5.9e-3 SMART
ZnF_C2H2 299 321 2.95e-3 SMART
ZnF_C2H2 327 349 2.09e-3 SMART
ZnF_C2H2 355 377 2.79e-4 SMART
ZnF_C2H2 383 405 2.99e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (21/21)
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC051665 T C 13: 60,931,774 (GRCm39) probably benign Het
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Dnm2 T C 9: 21,378,852 (GRCm39) L137P probably damaging Het
Elf2 A G 3: 51,164,865 (GRCm39) S380P probably benign Het
Fbxw15 T C 9: 109,394,500 (GRCm39) Y105C probably damaging Het
Gm21276 T A 7: 38,467,575 (GRCm39) noncoding transcript Het
Kat2b A G 17: 53,917,932 (GRCm39) N97S probably benign Het
Mus81 A G 19: 5,534,991 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or8a1b T C 9: 37,622,661 (GRCm39) R305G possibly damaging Het
Pkhd1l1 C A 15: 44,423,902 (GRCm39) A3148E possibly damaging Het
Prkar2b T C 12: 32,022,149 (GRCm39) N212S probably benign Het
Rp1 T A 1: 4,418,236 (GRCm39) T959S probably damaging Het
Samd4 G A 14: 47,122,299 (GRCm39) G8R probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skiv2l-ps1 A G 17: 34,989,076 (GRCm39) noncoding transcript Het
Vmn1r20 A G 6: 57,408,931 (GRCm39) M86V possibly damaging Het
Vwa1 A G 4: 155,857,526 (GRCm39) Y91H probably benign Het
Zan A G 5: 137,420,129 (GRCm39) S2843P unknown Het
Zbtb39 A T 10: 127,577,450 (GRCm39) Q8L possibly damaging Het
Other mutations in Gm12588
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Gm12588 APN 11 121,798,777 (GRCm39)
IGL01966:Gm12588 APN 11 121,797,561 (GRCm39) missense probably benign 0.16
IGL02234:Gm12588 APN 11 121,799,151 (GRCm39)
R3691:Gm12588 UTSW 11 121,796,751 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGGTTTCTCTCCAGTGTGTTTTC -3'
(R):5'- GGAGAGAAGCCCTATGAATGTAA -3'

Sequencing Primer
(F):5'- TCTCCAGTGTGTTTTCTTTTATGTAC -3'
(R):5'- GCCTTTGCTCAGAACAGTGATC -3'
Posted On 2014-10-30