Incidental Mutation 'IGL02928:Gm10553'
ID363957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10553
Ensembl Gene ENSMUSG00000073631
Gene Namepredicted gene 10553
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02928
Quality Score
Status
Chromosome1
Chromosomal Location85100164-85100535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85100212 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 17 (K17E)
Ref Sequence ENSEMBL: ENSMUSP00000137265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097669
AA Change: K17E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631
AA Change: K17E

DomainStartEndE-ValueType
low complexity region 111 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably benign
Transcript: ENSMUST00000160792
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161675
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161724
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,043,517 Y92C probably damaging Het
9430007A20Rik A T 4: 144,529,232 L407F possibly damaging Het
Abcc3 G T 11: 94,361,306 T817K possibly damaging Het
Arhgap10 G A 8: 77,250,910 probably benign Het
Arhgef16 G T 4: 154,282,893 Q352K probably benign Het
Cep104 A G 4: 153,981,259 I68V probably benign Het
Col5a2 G A 1: 45,385,020 A1082V probably benign Het
Col6a1 A T 10: 76,709,666 Y991N possibly damaging Het
Ehmt2 T C 17: 34,910,822 I1021T probably damaging Het
Eif2ak4 G A 2: 118,472,687 probably null Het
Ern1 A G 11: 106,405,879 probably benign Het
Fgf18 A T 11: 33,124,674 I99N possibly damaging Het
Glp1r A G 17: 30,918,937 D114G probably benign Het
Gm5422 T A 10: 31,250,254 noncoding transcript Het
Gm7714 A T 5: 88,277,117 I14L probably benign Het
Gnb1 A C 4: 155,553,406 T196P probably benign Het
Ighv6-5 T A 12: 114,416,792 D35V probably benign Het
Il18r1 G A 1: 40,478,551 probably null Het
Ipo11 A T 13: 106,889,355 probably benign Het
Itih1 T A 14: 30,937,758 Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 *464L probably null Het
Mrps7 C T 11: 115,605,084 Q113* probably null Het
Npat A C 9: 53,566,838 probably benign Het
Nrp2 A G 1: 62,815,446 I852V probably damaging Het
Olfr1338 A G 4: 118,754,500 F15L probably damaging Het
Olfr291 A G 7: 84,857,065 E232G probably benign Het
P2rx6 T A 16: 17,565,037 probably benign Het
Parp6 T A 9: 59,641,063 N466K possibly damaging Het
Prss12 A T 3: 123,487,156 N497Y possibly damaging Het
Psg22 T C 7: 18,719,533 V51A probably damaging Het
Ptgir T C 7: 16,908,998 S175P possibly damaging Het
Rd3l T C 12: 111,979,578 S156G probably benign Het
Reck C T 4: 43,912,078 H196Y possibly damaging Het
Rft1 T A 14: 30,663,115 V165D possibly damaging Het
Rin2 A G 2: 145,860,006 probably benign Het
Rufy4 A G 1: 74,129,082 probably benign Het
Scfd2 G A 5: 74,531,171 T150M probably damaging Het
Sgca A G 11: 94,972,303 W75R probably damaging Het
Sirt7 A T 11: 120,620,216 D318E probably benign Het
Snta1 C T 2: 154,381,039 A255T probably benign Het
Stxbp2 A G 8: 3,641,736 D485G probably damaging Het
Sycp1 T A 3: 102,818,818 probably benign Het
Tenm2 A G 11: 36,027,170 V1922A possibly damaging Het
Ttc7b A T 12: 100,403,415 V365D probably damaging Het
Upk3b A G 5: 136,039,141 E62G probably benign Het
Wdr36 T C 18: 32,847,319 probably null Het
Yars2 T C 16: 16,303,546 F188S probably damaging Het
Other mutations in Gm10553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Gm10553 APN 1 85100294 missense probably damaging 0.97
R1029:Gm10553 UTSW 1 85100449 missense probably benign
R1145:Gm10553 UTSW 1 85100449 missense probably benign
R1950:Gm10553 UTSW 1 85100420 missense possibly damaging 0.90
Posted On2015-12-18