Incidental Mutation 'IGL02709:Gm5538'
ID304479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5538
Ensembl Gene ENSMUSG00000090527
Gene Namepredicted gene 5538
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02709
Quality Score
Status
Chromosome3
Chromosomal Location59729790-59752333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59747198 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 151 (Y151C)
Ref Sequence ENSEMBL: ENSMUSP00000128877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168156]
Predicted Effect probably damaging
Transcript: ENSMUST00000168156
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: Y151C

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:DUF2424 70 214 9.3e-9 PFAM
Pfam:COesterase 91 236 5.4e-10 PFAM
Pfam:Abhydrolase_3 107 287 6.6e-36 PFAM
Pfam:Abhydrolase_3 271 375 1.4e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Fubp3 A G 2: 31,595,331 probably benign Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Other mutations in Gm5538
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Gm5538 APN 3 59752121 missense possibly damaging 0.91
IGL00934:Gm5538 APN 3 59752053 missense probably benign 0.00
IGL02335:Gm5538 APN 3 59743605 missense probably benign
IGL03114:Gm5538 APN 3 59743723 missense possibly damaging 0.55
R0107:Gm5538 UTSW 3 59752316 missense possibly damaging 0.78
R0591:Gm5538 UTSW 3 59752129 nonsense probably null
R0850:Gm5538 UTSW 3 59752248 missense possibly damaging 0.80
R1127:Gm5538 UTSW 3 59751893 missense probably benign 0.00
R1916:Gm5538 UTSW 3 59745503 missense possibly damaging 0.48
R3008:Gm5538 UTSW 3 59745509 missense possibly damaging 0.93
R3921:Gm5538 UTSW 3 59752077 missense probably damaging 0.98
R4368:Gm5538 UTSW 3 59751966 missense probably damaging 1.00
R5240:Gm5538 UTSW 3 59752028 missense probably damaging 0.99
R5268:Gm5538 UTSW 3 59752023 missense probably damaging 0.99
R5511:Gm5538 UTSW 3 59747264 missense probably damaging 1.00
R5564:Gm5538 UTSW 3 59752092 missense probably benign
R5812:Gm5538 UTSW 3 59747272 missense probably damaging 1.00
R5981:Gm5538 UTSW 3 59751878 missense probably benign
R6049:Gm5538 UTSW 3 59752149 missense probably damaging 1.00
R6195:Gm5538 UTSW 3 59752202 missense probably damaging 0.98
R6353:Gm5538 UTSW 3 59752108 missense probably damaging 1.00
R6449:Gm5538 UTSW 3 59745551 missense probably damaging 1.00
R6845:Gm5538 UTSW 3 59752118 missense probably damaging 1.00
R7382:Gm5538 UTSW 3 59743616 missense probably benign 0.18
Posted On2015-04-16