Incidental Mutation 'R0905:Gm12253'
ID83298
Institutional Source Beutler Lab
Gene Symbol Gm12253
Ensembl Gene ENSMUSG00000058287
Gene Namepredicted gene 12253
Synonyms
MMRRC Submission 039063-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0905 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location58432559-58441622 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 58440020 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108825]
Predicted Effect probably benign
Transcript: ENSMUST00000108825
SMART Domains Protein: ENSMUSP00000104453
Gene: ENSMUSG00000058287

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.6%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 G A 2: 20,849,934 T1539M possibly damaging Het
Birc3 A T 9: 7,851,051 *138R probably null Het
Bsn C A 9: 108,105,635 D3640Y unknown Het
Bsph1 A T 7: 13,450,914 M1L probably benign Het
Cdkl1 A T 12: 69,756,564 Y179* probably null Het
Cfap74 G A 4: 155,418,696 probably null Het
Crtc1 A T 8: 70,391,255 S454T probably damaging Het
Cspg5 A T 9: 110,246,526 D110V probably damaging Het
Cyp2w1 A T 5: 139,356,439 Y380F probably benign Het
Dbn1 T C 13: 55,474,227 probably benign Het
Epb41l4b T C 4: 57,103,528 K103E probably damaging Het
Eps8 C T 6: 137,514,307 V358I probably benign Het
Hltf T A 3: 20,108,869 probably null Het
Hsd17b11 C T 5: 104,009,878 V123I probably benign Het
Il31ra T A 13: 112,531,673 E481V probably damaging Het
Impdh2 A G 9: 108,561,097 probably benign Het
Itih5 G A 2: 10,249,188 R750Q probably benign Het
Kndc1 A C 7: 139,923,735 K985T possibly damaging Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Lgsn A T 1: 31,203,743 Y302F probably damaging Het
Lrp1b A G 2: 41,284,185 S1541P probably damaging Het
Mast4 A G 13: 102,770,784 M528T probably damaging Het
Mzf1 C A 7: 13,052,771 R124L possibly damaging Het
Ndufs2 T C 1: 171,236,353 probably null Het
Nwd1 G A 8: 72,709,449 V1436M probably damaging Het
Phf12 C T 11: 78,009,404 R109* probably null Het
Pml A G 9: 58,249,539 probably null Het
Ppfia2 T C 10: 106,819,511 I313T probably benign Het
Prdm14 C T 1: 13,125,438 G133D probably benign Het
Pygl A G 12: 70,211,017 probably benign Het
Rassf10 C T 7: 112,955,368 T392M probably damaging Het
Rpe65 T C 3: 159,601,583 S54P possibly damaging Het
Sema5b T C 16: 35,622,631 V2A probably benign Het
Sgsm3 T C 15: 81,011,345 I699T probably damaging Het
Spn T C 7: 127,136,331 T335A probably damaging Het
Tecta T C 9: 42,338,994 D1834G probably damaging Het
Trp53bp1 C A 2: 121,204,318 probably benign Het
Ttc3 A T 16: 94,456,789 K1652* probably null Het
Zadh2 A G 18: 84,095,207 H336R probably benign Het
Other mutations in Gm12253
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01923:Gm12253 APN 11 58434901 critical splice donor site probably null
IGL01993:Gm12253 APN 11 58434553 missense probably damaging 0.99
R0281:Gm12253 UTSW 11 58440012 splice site probably benign
R2381:Gm12253 UTSW 11 58435458 missense probably damaging 0.99
R4361:Gm12253 UTSW 11 58434861 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCAGTGCTCATGACCTCACACAG -3'
(R):5'- CAGTCTCATGAAATGTTCCGAGTCCAG -3'

Sequencing Primer
(F):5'- TCATGACCTCACACAGAGGTG -3'
(R):5'- TGTTCCGAGTCCAGAAAGAAG -3'
Posted On2013-11-08