Incidental Mutation 'IGL01474:Gm2888'
ID88368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm2888
Ensembl Gene ENSMUSG00000090487
Gene Namepredicted gene 2888
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01474
Quality Score
Status
Chromosome14
Chromosomal Location3030002-3038762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3032041 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 116 (D116E)
Ref Sequence ENSEMBL: ENSMUSP00000137316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170521] [ENSMUST00000178577]
Predicted Effect probably damaging
Transcript: ENSMUST00000170521
AA Change: D116E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132602
Gene: ENSMUSG00000090487
AA Change: D116E

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-22 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178577
AA Change: D116E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137316
Gene: ENSMUSG00000090487
AA Change: D116E

DomainStartEndE-ValueType
Pfam:Takusan 46 129 5.7e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,772,783 K336I possibly damaging Het
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Cnot7 A G 8: 40,507,449 probably null Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Gm9774 G T 3: 92,428,343 Q351K probably damaging Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Klhl14 T G 18: 21,557,854 H513P probably damaging Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rdh9 T C 10: 127,790,945 L289P probably damaging Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign Het
Other mutations in Gm2888
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2391:Gm2888 UTSW 14 3037656 missense possibly damaging 0.94
R6553:Gm2888 UTSW 14 3037722 missense possibly damaging 0.95
Posted On2013-11-18