Incidental Mutation 'IGL02011:Gbp10'
ID183358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp10
Ensembl Gene ENSMUSG00000105096
Gene Nameguanylate-binding protein 10
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02011
Quality Score
Status
Chromosome5
Chromosomal Location105215699-105239533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105221101 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 291 (G291W)
Ref Sequence ENSEMBL: ENSMUSP00000069042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000065588]
Predicted Effect probably benign
Transcript: ENSMUST00000050011
SMART Domains Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362

DomainStartEndE-ValueType
Pfam:GBP 16 279 7.6e-118 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065588
AA Change: G291W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: G291W

DomainStartEndE-ValueType
Pfam:GBP 16 279 5e-115 PFAM
Pfam:GBP_C 281 575 3.6e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196634
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Gbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Gbp10 APN 5 105221114 splice site probably benign
IGL01680:Gbp10 APN 5 105224271 splice site probably null
IGL01809:Gbp10 APN 5 105217359 missense probably benign
IGL01845:Gbp10 APN 5 105219949 splice site probably null
IGL02063:Gbp10 APN 5 105236040 missense possibly damaging 0.95
IGL02533:Gbp10 APN 5 105220035 missense probably damaging 1.00
IGL02612:Gbp10 APN 5 105218502 missense possibly damaging 0.88
R0349:Gbp10 UTSW 5 105221076 missense possibly damaging 0.60
R0462:Gbp10 UTSW 5 105218524 missense possibly damaging 0.67
R0535:Gbp10 UTSW 5 105221011 missense possibly damaging 0.95
R1223:Gbp10 UTSW 5 105219001 missense probably damaging 1.00
R1704:Gbp10 UTSW 5 105224351 missense probably damaging 1.00
R1792:Gbp10 UTSW 5 105224300 missense probably damaging 1.00
R3738:Gbp10 UTSW 5 105224458 missense possibly damaging 0.84
R3739:Gbp10 UTSW 5 105224458 missense possibly damaging 0.84
R4035:Gbp10 UTSW 5 105224458 missense possibly damaging 0.84
R4421:Gbp10 UTSW 5 105224651 splice site probably null
R5207:Gbp10 UTSW 5 105224709 missense probably benign 0.05
R5338:Gbp10 UTSW 5 105224300 missense probably damaging 1.00
R6010:Gbp10 UTSW 5 105224339 missense probably damaging 1.00
R6045:Gbp10 UTSW 5 105218403 missense probably damaging 0.98
R6156:Gbp10 UTSW 5 105236149 start gained probably benign
R6285:Gbp10 UTSW 5 105218460 missense probably damaging 1.00
R6525:Gbp10 UTSW 5 105236084 missense probably benign 0.01
R6908:Gbp10 UTSW 5 105221032 missense probably damaging 0.97
Posted On2014-05-07