Incidental Mutation 'IGL02193:Gm6133'
ID283954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6133
Ensembl Gene ENSMUSG00000090451
Gene Namepredicted gene 6133
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.810) question?
Stock #IGL02193
Quality Score
Status
Chromosome18
Chromosomal Location78349754-78350701 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78350093 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 101 (N101D)
Ref Sequence ENSEMBL: ENSMUSP00000128489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164064]
Predicted Effect probably benign
Transcript: ENSMUST00000164064
AA Change: N101D

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128489
Gene: ENSMUSG00000090451
AA Change: N101D

DomainStartEndE-ValueType
Pfam:Ribosomal_L22 17 151 3.4e-44 PFAM
low complexity region 167 179 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,249,000 T191A probably benign Het
9130011E15Rik G T 19: 45,972,884 T118K probably benign Het
Agl A G 3: 116,779,166 L812P probably damaging Het
Ankmy1 A T 1: 92,881,045 F714I probably benign Het
Celf5 A G 10: 81,470,673 I52T probably damaging Het
Clstn1 T C 4: 149,645,352 V771A probably benign Het
Enpep G T 3: 129,281,687 L661I possibly damaging Het
Faxc A G 4: 21,993,486 N377D possibly damaging Het
Gabrb3 A G 7: 57,792,516 E190G probably damaging Het
Gm4787 C T 12: 81,378,528 M285I probably benign Het
Gm5900 A C 7: 104,950,024 noncoding transcript Het
Gtse1 A G 15: 85,862,330 K116E probably benign Het
H2-D1 T G 17: 35,265,809 H215Q possibly damaging Het
Hdc A T 2: 126,601,780 probably benign Het
Hnrnph3 T C 10: 63,017,277 H195R probably damaging Het
Ipo8 T C 6: 148,777,284 T939A probably damaging Het
Krt79 G T 15: 101,939,905 P104T possibly damaging Het
Lama4 A T 10: 39,042,674 M384L probably benign Het
Lamb2 T G 9: 108,489,360 D1590E probably benign Het
Ly6i A T 15: 74,983,030 C10* probably null Het
Mamdc4 G A 2: 25,564,446 A1082V probably benign Het
Mrvi1 A T 7: 110,898,955 L411Q probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nlrp4a T A 7: 26,459,692 L799H probably damaging Het
Olfr1040 A T 2: 86,146,715 N6K probably benign Het
Olfr1383 C T 11: 49,523,744 T7I possibly damaging Het
Olfr449 T C 6: 42,838,819 probably benign Het
Otud6b T C 4: 14,812,543 H268R probably damaging Het
Peg3 T C 7: 6,711,928 E138G probably damaging Het
Phactr1 T C 13: 42,709,700 probably benign Het
Psmf1 A G 2: 151,720,813 probably benign Het
Rab32 T C 10: 10,546,455 probably benign Het
Rfwd3 C T 8: 111,273,015 probably benign Het
Slc25a3 A G 10: 91,118,115 V245A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc1 A G 18: 9,992,863 D545G probably benign Het
Tpst1 T A 5: 130,101,896 M69K possibly damaging Het
Trank1 T C 9: 111,367,276 V1456A probably benign Het
Trappc6a T A 7: 19,515,219 C124S possibly damaging Het
Tsc22d2 T A 3: 58,460,207 probably benign Het
Other mutations in Gm6133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Gm6133 APN 18 78350175 missense probably benign 0.14
R0467:Gm6133 UTSW 18 78350090 missense probably benign 0.41
R3900:Gm6133 UTSW 18 78350150 missense probably benign 0.22
R5770:Gm6133 UTSW 18 78350249 missense probably benign 0.10
R7481:Gm6133 UTSW 18 78349793 start codon destroyed probably benign 0.13
Posted On2015-04-16