Incidental Mutation 'IGL02454:Gm11554'
ID 293772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11554
Ensembl Gene ENSMUSG00000078259
Gene Name predicted gene 11554
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02454
Quality Score
Status
Chromosome 11
Chromosomal Location 99694496-99695272 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99694815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 133 (S133C)
Ref Sequence ENSEMBL: ENSMUSP00000100677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105056]
AlphaFold B1AQB2
Predicted Effect unknown
Transcript: ENSMUST00000105056
AA Change: S133C
SMART Domains Protein: ENSMUSP00000100677
Gene: ENSMUSG00000078259
AA Change: S133C

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 52 7.4e-9 PFAM
Pfam:Keratin_B2 1 122 3.8e-11 PFAM
Pfam:Keratin_B2_2 34 78 8.9e-14 PFAM
Pfam:Keratin_B2_2 74 117 2.5e-12 PFAM
Pfam:Keratin_B2_2 109 157 2.5e-7 PFAM
Pfam:Keratin_B2_2 149 190 5.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amz2 T G 11: 109,324,887 (GRCm39) probably benign Het
Atp13a5 A G 16: 29,051,560 (GRCm39) F1104S probably benign Het
Cacna1c T C 6: 118,579,141 (GRCm39) N1610S probably damaging Het
Ccnl1 A T 3: 65,864,318 (GRCm39) D122E probably damaging Het
Crtc2 G A 3: 90,166,474 (GRCm39) G65S probably benign Het
Dnah17 T C 11: 117,971,593 (GRCm39) T2160A probably damaging Het
Fads3 T G 19: 10,032,483 (GRCm39) L278R probably damaging Het
Foxp4 A T 17: 48,186,507 (GRCm39) L424* probably null Het
Gm10392 A T 11: 77,409,216 (GRCm39) E310V probably damaging Het
Hacd2 T A 16: 34,926,761 (GRCm39) F253L probably benign Het
Il3ra T C 14: 14,351,113 (GRCm38) S212P probably benign Het
Mdn1 T C 4: 32,694,674 (GRCm39) probably null Het
Mtfr1l A T 4: 134,257,696 (GRCm39) L111H probably damaging Het
Mysm1 A G 4: 94,858,741 (GRCm39) probably benign Het
Or10j2 C A 1: 173,098,507 (GRCm39) S255Y probably damaging Het
Or52d1 T C 7: 103,755,819 (GRCm39) V111A probably damaging Het
Plec A T 15: 76,075,231 (GRCm39) F357I probably damaging Het
Polr3a C A 14: 24,525,891 (GRCm39) V450L possibly damaging Het
Prkd1 T C 12: 50,411,456 (GRCm39) K764R probably benign Het
Pxn C T 5: 115,690,325 (GRCm39) P256S probably damaging Het
Rbm25 T A 12: 83,707,096 (GRCm39) F247L probably benign Het
Rfx4 C T 10: 84,675,970 (GRCm39) T62M possibly damaging Het
Rps4l-ps T C 7: 114,526,499 (GRCm39) noncoding transcript Het
Scn11a A G 9: 119,587,610 (GRCm39) I1378T probably benign Het
Siglecg T C 7: 43,058,319 (GRCm39) S69P probably benign Het
Stox1 T C 10: 62,503,605 (GRCm39) Y61C probably damaging Het
Tex55 T A 16: 38,648,309 (GRCm39) T267S probably benign Het
Tnks C T 8: 35,298,882 (GRCm39) probably benign Het
Tpr A G 1: 150,306,943 (GRCm39) S1587G probably benign Het
Trappc6b A G 12: 59,090,433 (GRCm39) *97Q probably null Het
Usf3 T C 16: 44,037,545 (GRCm39) V675A probably damaging Het
Wdr7 C T 18: 63,929,299 (GRCm39) T1045M probably benign Het
Zc3h11a A T 1: 133,552,254 (GRCm39) C618S probably benign Het
Zfp398 T C 6: 47,817,301 (GRCm39) V47A possibly damaging Het
Zzz3 A G 3: 152,134,211 (GRCm39) N423S probably benign Het
Other mutations in Gm11554
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4539:Gm11554 UTSW 11 99,695,186 (GRCm39) unclassified probably benign
R7393:Gm11554 UTSW 11 99,694,698 (GRCm39) missense unknown
R7398:Gm11554 UTSW 11 99,695,085 (GRCm39) missense unknown
R7470:Gm11554 UTSW 11 99,695,190 (GRCm39) missense unknown
Posted On 2015-04-16