Incidental Mutation 'IGL02304:Gm12355'
ID287505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12355
Ensembl Gene ENSMUSG00000078134
Gene Namepredicted gene 12355
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL02304
Quality Score
Status
Chromosome11
Chromosomal Location98624351-98625661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98625538 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 3 (R3H)
Ref Sequence ENSEMBL: ENSMUSP00000100538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000104933] [ENSMUST00000107508]
Predicted Effect probably benign
Transcript: ENSMUST00000073295
SMART Domains Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224

DomainStartEndE-ValueType
Pfam:Gasdermin 3 430 1.4e-132 PFAM
low complexity region 438 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104933
AA Change: R3H

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134
AA Change: R3H

DomainStartEndE-ValueType
RRM 10 78 7.02e-19 SMART
low complexity region 97 142 N/A INTRINSIC
low complexity region 147 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107508
SMART Domains Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 9.5e-134 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Adamts8 A G 9: 30,956,656 N592S possibly damaging Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cdh9 A T 15: 16,848,601 T456S probably benign Het
Cep162 A T 9: 87,227,147 probably benign Het
Clvs2 T C 10: 33,528,447 M258V probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kcnk18 T C 19: 59,234,863 Y147H probably damaging Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Olfr731 T C 14: 50,238,760 N42D probably damaging Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P probably damaging Het
Other mutations in Gm12355
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Gm12355 APN 11 98625509 missense probably damaging 1.00
IGL02869:Gm12355 APN 11 98625320 nonsense probably null
IGL03246:Gm12355 APN 11 98625293 nonsense probably null
R0245:Gm12355 UTSW 11 98625241 unclassified probably benign
R4111:Gm12355 UTSW 11 98625397 missense probably damaging 1.00
Posted On2015-04-16