Incidental Mutation 'IGL03145:Gm5624'
ID410853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5624
Ensembl Gene ENSMUSG00000092165
Gene Namepredicted gene 5624
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL03145
Quality Score
Status
Chromosome14
Chromosomal Location44556795-44627938 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44560765 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 85 (M85T)
Ref Sequence ENSEMBL: ENSMUSP00000136815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]
Predicted Effect unknown
Transcript: ENSMUST00000165769
AA Change: M128T
SMART Domains Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: M128T

DomainStartEndE-ValueType
Pfam:Takusan 57 137 1.2e-27 PFAM
coiled coil region 152 185 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178184
AA Change: M85T

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: M85T

DomainStartEndE-ValueType
Pfam:Takusan 13 93 2.2e-27 PFAM
coiled coil region 109 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226445
Predicted Effect probably benign
Transcript: ENSMUST00000227882
AA Change: M84T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,593,438 D17G probably damaging Het
Adam39 C T 8: 40,824,658 P29S probably benign Het
Afap1l1 T C 18: 61,741,809 K434E possibly damaging Het
Akap7 T C 10: 25,239,667 T187A probably damaging Het
Atp7b A C 8: 22,018,143 I479S probably damaging Het
Cdh23 T A 10: 60,376,814 E1606V probably damaging Het
Cnga3 A G 1: 37,261,674 S530G probably damaging Het
Col13a1 A G 10: 61,891,261 Y228H probably benign Het
Cybb C A X: 9,453,653 E203* probably null Het
Dnah6 A T 6: 73,041,054 M3594K probably damaging Het
Galnt14 C A 17: 73,504,908 Q439H possibly damaging Het
Gck T A 11: 5,909,093 D158V probably damaging Het
Hgsnat A T 8: 25,946,452 N557K probably damaging Het
Idua A G 5: 108,681,496 T388A probably benign Het
Itgam A G 7: 128,113,019 D692G probably benign Het
Lrrtm3 A G 10: 64,089,020 Y123H probably benign Het
Mccc1 C T 3: 35,968,446 R566H probably benign Het
Myh7 A T 14: 54,983,345 L999Q probably damaging Het
Myo6 T G 9: 80,300,665 Y1146* probably null Het
Nr3c1 C A 18: 39,486,260 G325W probably damaging Het
Olfr458 A G 6: 42,460,500 V173A probably benign Het
Olfr497 T A 7: 108,422,599 H9Q probably benign Het
Olfr862 T A 9: 19,883,439 I289F possibly damaging Het
Phf1 T C 17: 26,934,370 probably null Het
Piezo1 T C 8: 122,482,921 T2349A probably benign Het
Pih1d1 T C 7: 45,159,121 probably null Het
Pold3 A G 7: 100,096,512 S145P probably damaging Het
Prpf38b G T 3: 108,903,945 probably benign Het
Racgap1 A T 15: 99,623,640 M545K probably benign Het
Safb T C 17: 56,605,287 Y802H probably damaging Het
Serpina3f A T 12: 104,217,457 M193L probably benign Het
Slc43a2 G A 11: 75,568,437 V432M probably benign Het
Spata2l T C 8: 123,233,336 R405G possibly damaging Het
Sv2c A G 13: 95,989,098 V377A probably damaging Het
Tbc1d15 C T 10: 115,202,516 M597I probably benign Het
Tenm4 A T 7: 96,842,968 R1036S probably damaging Het
Tjp3 A G 10: 81,283,688 Y15H probably benign Het
Tkt A G 14: 30,560,688 probably benign Het
Tpm2 T C 4: 43,519,447 E145G probably damaging Het
Trib2 G A 12: 15,809,931 H110Y probably damaging Het
Trim60 A T 8: 65,000,572 S342T probably damaging Het
Ube2o T C 11: 116,544,009 E542G probably damaging Het
Usp36 T C 11: 118,279,241 D218G probably damaging Het
Zfp407 A G 18: 84,209,721 L1921P probably damaging Het
Zfp983 G T 17: 21,659,008 M42I probably damaging Het
Other mutations in Gm5624
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Gm5624 APN 14 44559839 critical splice donor site probably null
IGL02682:Gm5624 APN 14 44560012 missense possibly damaging 0.86
IGL03212:Gm5624 APN 14 44560710 missense probably benign 0.01
R1800:Gm5624 UTSW 14 44561845 missense probably damaging 1.00
R6136:Gm5624 UTSW 14 44559876 missense probably benign 0.17
R6727:Gm5624 UTSW 14 44561875 missense possibly damaging 0.52
R7512:Gm5624 UTSW 14 44561855 missense
R7662:Gm5624 UTSW 14 44561933 missense possibly damaging 0.94
R7950:Gm5624 UTSW 14 44560733 missense
R8411:Gm5624 UTSW 14 44561890 missense
R8413:Gm5624 UTSW 14 44561890 missense
Posted On2016-08-02