Incidental Mutation 'IGL00556:Gm6370'
ID332597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6370
Ensembl Gene ENSMUSG00000096527
Gene Namepredicted gene 6370
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL00556
Quality Score
Status
Chromosome5
Chromosomal Location146491363-146494132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146493913 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 303 (T303A)
Ref Sequence ENSEMBL: ENSMUSP00000143740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110611] [ENSMUST00000198912]
Predicted Effect probably benign
Transcript: ENSMUST00000110611
AA Change: T299A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106241
Gene: ENSMUSG00000096527
AA Change: T299A

DomainStartEndE-ValueType
RasGEFN 66 181 2.8e-4 SMART
low complexity region 265 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198912
AA Change: T303A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143740
Gene: ENSMUSG00000096527
AA Change: T303A

DomainStartEndE-ValueType
RasGEFN 66 181 1.4e-6 SMART
low complexity region 269 287 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,784,457 D225G probably benign Het
Abca12 T C 1: 71,353,757 I108V probably benign Het
Atad2 A G 15: 58,100,080 I723T probably damaging Het
Cct4 T A 11: 22,997,656 V233E possibly damaging Het
Ces1a A G 8: 93,045,059 Y37H probably benign Het
Cgnl1 C T 9: 71,656,056 R863Q probably benign Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fhdc1 A T 3: 84,457,242 D232E possibly damaging Het
Gsdmc2 A G 15: 63,828,271 probably benign Het
Kif13b T A 14: 64,744,888 N516K probably damaging Het
Med1 A G 11: 98,155,684 probably benign Het
Med4 T C 14: 73,517,267 M190T probably damaging Het
Myo15b T C 11: 115,891,916 V1534A possibly damaging Het
Neb T C 2: 52,191,949 R1722G probably benign Het
Obp2b A T 2: 25,738,581 I116F probably damaging Het
Rims2 A G 15: 39,456,674 probably null Het
Siglecg A T 7: 43,411,795 I431F probably benign Het
Thap12 T A 7: 98,716,137 V504D possibly damaging Het
Tlr7 A C X: 167,308,475 M5R possibly damaging Het
Tubgcp6 A G 15: 89,100,962 V1641A probably damaging Het
Ugt2b1 T A 5: 86,926,196 L101F probably benign Het
Xdh A T 17: 73,884,435 *1336R probably null Het
Other mutations in Gm6370
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Gm6370 APN 5 146493643 missense possibly damaging 0.65
R0331:Gm6370 UTSW 5 146493766 missense probably benign
R2151:Gm6370 UTSW 5 146493641 missense probably damaging 1.00
R2202:Gm6370 UTSW 5 146493729 missense probably benign 0.00
R2203:Gm6370 UTSW 5 146493729 missense probably benign 0.00
R2204:Gm6370 UTSW 5 146493729 missense probably benign 0.00
R2205:Gm6370 UTSW 5 146493729 missense probably benign 0.00
R4110:Gm6370 UTSW 5 146493892 missense probably benign 0.01
R4210:Gm6370 UTSW 5 146493924 missense possibly damaging 0.61
R4855:Gm6370 UTSW 5 146493811 missense probably benign 0.00
R4883:Gm6370 UTSW 5 146493926 missense probably benign 0.08
R5622:Gm6370 UTSW 5 146493898 missense probably benign 0.44
R6986:Gm6370 UTSW 5 146493588 splice site probably null
R7216:Gm6370 UTSW 5 146493913 missense probably benign 0.06
R7519:Gm6370 UTSW 5 146493828 missense probably damaging 0.96
Posted On2015-08-05