Incidental Mutation 'IGL02829:Gm42878'
ID 361335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm42878
Ensembl Gene ENSMUSG00000105340
Gene Name predicted gene 42878
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02829
Quality Score
Status
Chromosome 5
Chromosomal Location 121656676-121683545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121675266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
Ref Sequence ENSEMBL: ENSMUSP00000143668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031410] [ENSMUST00000111782] [ENSMUST00000111783] [ENSMUST00000111786] [ENSMUST00000125946] [ENSMUST00000196315] [ENSMUST00000200170]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031410
AA Change: V101A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: V101A

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 409 434 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111781
SMART Domains Protein: ENSMUSP00000107411
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 200 1.9e-15 PFAM
Pfam:Pkinase 1 203 1.2e-48 PFAM
coiled coil region 308 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111782
SMART Domains Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase 6 155 3.7e-27 PFAM
coiled coil region 258 283 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111783
AA Change: V101A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: V101A

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111786
SMART Domains Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase 6 155 3.8e-27 PFAM
coiled coil region 260 285 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125946
AA Change: V101A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: V101A

DomainStartEndE-ValueType
S_TKc 22 304 5.3e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196315
AA Change: V101A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454
AA Change: V101A

DomainStartEndE-ValueType
STYKc 22 179 4.1e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200170
AA Change: V101A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: V101A

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153763
SMART Domains Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131914
Predicted Effect probably benign
Transcript: ENSMUST00000151352
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,490,780 (GRCm39) T303A probably damaging Het
Bet1 T A 6: 4,086,795 (GRCm39) M1L probably benign Het
Bicc1 A C 10: 70,794,710 (GRCm39) V149G probably damaging Het
Braf C A 6: 39,604,662 (GRCm39) L655F possibly damaging Het
Cd101 A G 3: 100,925,881 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,389 (GRCm39) K290E probably damaging Het
Col6a5 A T 9: 105,811,506 (GRCm39) I671K unknown Het
D130052B06Rik A C 11: 33,573,864 (GRCm39) T154P probably benign Het
Dglucy A C 12: 100,837,663 (GRCm39) H602P probably damaging Het
Fbxo34 A G 14: 47,767,146 (GRCm39) I220V probably benign Het
Gsdmc4 A G 15: 63,764,497 (GRCm39) L381P probably benign Het
Ifi208 C A 1: 173,510,406 (GRCm39) P187H probably damaging Het
Lrrc37a A T 11: 103,382,000 (GRCm39) C2473S unknown Het
Miip T A 4: 147,947,518 (GRCm39) N214I probably benign Het
Mrc2 A G 11: 105,227,533 (GRCm39) T589A possibly damaging Het
Mtss1 A G 15: 58,930,277 (GRCm39) probably benign Het
Mypn T C 10: 63,028,365 (GRCm39) R233G probably benign Het
Naip6 A T 13: 100,437,273 (GRCm39) C417S probably benign Het
Or13f5 C T 4: 52,826,027 (GRCm39) P210L probably damaging Het
Or4c111 A C 2: 88,844,021 (GRCm39) L129W probably damaging Het
Or8k37 T A 2: 86,469,599 (GRCm39) Y151F possibly damaging Het
Pcsk1 T C 13: 75,274,955 (GRCm39) Y515H probably damaging Het
Pla2g2e T A 4: 138,607,747 (GRCm39) Y42* probably null Het
Polh A T 17: 46,483,828 (GRCm39) L479Q possibly damaging Het
Prr36 T A 8: 4,265,278 (GRCm39) R157S possibly damaging Het
Reck T A 4: 43,891,014 (GRCm39) C51S probably damaging Het
Rev3l A G 10: 39,701,236 (GRCm39) D1911G probably damaging Het
Scgb1b27 A T 7: 33,721,173 (GRCm39) probably null Het
Sema4g G A 19: 44,981,188 (GRCm39) R47Q possibly damaging Het
Serinc1 A T 10: 57,400,061 (GRCm39) Y158* probably null Het
Slc15a2 C A 16: 36,577,555 (GRCm39) G435C possibly damaging Het
Tbc1d17 C A 7: 44,498,296 (GRCm39) probably benign Het
Tenm4 C T 7: 96,544,205 (GRCm39) Q2074* probably null Het
Tns3 A G 11: 8,469,564 (GRCm39) C244R probably damaging Het
Vmn2r2 A T 3: 64,026,172 (GRCm39) probably benign Het
Vmn2r44 T A 7: 8,380,879 (GRCm39) Q338L possibly damaging Het
Wdr70 C T 15: 8,006,463 (GRCm39) D363N possibly damaging Het
Yipf7 A T 5: 69,698,434 (GRCm39) S24R probably benign Het
Other mutations in Gm42878
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Gm42878 APN 5 121,671,406 (GRCm39) missense probably damaging 0.99
IGL01796:Gm42878 APN 5 121,683,247 (GRCm39) missense probably benign
IGL02557:Gm42878 APN 5 121,665,194 (GRCm39) missense possibly damaging 0.95
Posted On 2015-12-18