Incidental Mutation 'IGL03178:Gm20425'
ID 412084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20425
Ensembl Gene ENSMUSG00000090639
Gene Name predicted gene 20425
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03178
Quality Score
Status
Chromosome 9
Chromosomal Location (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103087751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 654 (Y654H)
Ref Sequence ENSEMBL: ENSMUSP00000127808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000166836] [ENSMUST00000170904]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035158
AA Change: Y668H

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: Y668H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 352 5.04e-194 SMART
TR_FER 360 686 8.64e-193 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112645
AA Change: Y668H

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: Y668H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 352 5.04e-194 SMART
TR_FER 360 686 8.64e-193 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166836
AA Change: Y654H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: Y654H

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
TR_FER 25 338 4.98e-175 SMART
TR_FER 346 672 8.64e-193 SMART
Pfam:Arf 758 928 1.5e-15 PFAM
Pfam:SRPRB 769 948 1.4e-73 PFAM
Pfam:MMR_HSR1 773 888 7.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168142
SMART Domains Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 2 249 1.87e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170904
SMART Domains Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 15 275 7.6e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190051
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,771,589 (GRCm39) probably null Het
Afg2a T C 3: 37,632,932 (GRCm39) L846P probably damaging Het
Alpk1 A T 3: 127,473,870 (GRCm39) L711* probably null Het
Arfgef3 A T 10: 18,488,973 (GRCm39) W1291R probably damaging Het
Arhgef10l A G 4: 140,271,739 (GRCm39) V545A possibly damaging Het
Best3 A G 10: 116,824,684 (GRCm39) Y50C probably damaging Het
C1qtnf2 C A 11: 43,381,816 (GRCm39) D179E probably damaging Het
Cdc40 A T 10: 40,723,985 (GRCm39) S268T probably benign Het
Ces1a C T 8: 93,747,517 (GRCm39) G505R probably damaging Het
Cpd A T 11: 76,696,877 (GRCm39) N683K probably benign Het
D430041D05Rik A T 2: 104,051,556 (GRCm39) I767N probably damaging Het
Diras1 G T 10: 80,858,211 (GRCm39) F13L possibly damaging Het
Dnah7c A G 1: 46,506,525 (GRCm39) N201D probably benign Het
Dpy19l3 A T 7: 35,429,154 (GRCm39) Y9* probably null Het
Ect2 T A 3: 27,203,009 (GRCm39) I79L probably benign Het
Eif2b4 A T 5: 31,344,997 (GRCm39) I550N probably damaging Het
Enpp2 T A 15: 54,729,402 (GRCm39) M476L probably benign Het
Gm5884 T C 6: 128,622,690 (GRCm39) noncoding transcript Het
Gtf3c6 A T 10: 40,125,718 (GRCm39) D166E probably benign Het
Gucy2c A T 6: 136,706,237 (GRCm39) probably benign Het
Inpp5b A G 4: 124,679,047 (GRCm39) T485A probably benign Het
Insrr A G 3: 87,709,848 (GRCm39) probably null Het
Lig3 T C 11: 82,680,548 (GRCm39) probably benign Het
Lmo7 T A 14: 102,166,696 (GRCm39) Y1047* probably null Het
Map4k4 A G 1: 40,025,853 (GRCm39) E281G possibly damaging Het
Mmel1 A G 4: 154,975,311 (GRCm39) T431A possibly damaging Het
Myh10 T C 11: 68,590,239 (GRCm39) V58A probably benign Het
Myo1e A T 9: 70,194,231 (GRCm39) H14L possibly damaging Het
Myo1g C T 11: 6,462,181 (GRCm39) V594M probably damaging Het
Nr4a2 G A 2: 57,000,778 (GRCm39) R226C probably damaging Het
Obox3 A G 7: 15,361,202 (GRCm39) L21P probably benign Het
Or2y13 A G 11: 49,414,817 (GRCm39) D89G possibly damaging Het
Pate12 T G 9: 36,344,132 (GRCm39) S38R probably benign Het
Phlpp1 T A 1: 106,320,118 (GRCm39) I1371N probably damaging Het
Pramel29 A G 4: 143,934,821 (GRCm39) probably null Het
Proser3 G A 7: 30,243,034 (GRCm39) A181V probably damaging Het
Pudp A T 18: 50,701,472 (GRCm39) L87Q probably benign Het
Siglecf T C 7: 43,008,163 (GRCm39) S559P probably damaging Het
Slc22a16 A G 10: 40,449,756 (GRCm39) H85R probably benign Het
Spata32 T C 11: 103,101,588 (GRCm39) D15G probably benign Het
Szt2 G A 4: 118,239,886 (GRCm39) A1899V unknown Het
Tomm40 C T 7: 19,435,759 (GRCm39) V324M probably damaging Het
Trgv7 C A 13: 19,362,211 (GRCm39) probably benign Het
Ttll4 C T 1: 74,719,567 (GRCm39) P25S probably damaging Het
Vps13b G T 15: 35,869,446 (GRCm39) C2650F probably damaging Het
Wdr83os T C 8: 85,807,870 (GRCm39) L40P probably damaging Het
Zfp977 T C 7: 42,232,072 (GRCm39) R64G probably damaging Het
Other mutations in Gm20425
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Gm20425 APN 9 103,068,293 (GRCm39) missense probably damaging 1.00
1mM(1):Gm20425 UTSW 9 103,069,441 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02