Incidental Mutation 'IGL02542:Gm20547'
ID297701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20547
Ensembl Gene ENSMUSG00000092511
Gene Namepredicted gene 20547
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02542
Quality Score
Status
Chromosome17
Chromosomal Location34856412-34882042 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34857260 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 1151 (S1151G)
Ref Sequence ENSEMBL: ENSMUSP00000117677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000153400] [ENSMUST00000154526] [ENSMUST00000165953] [ENSMUST00000173065] [ENSMUST00000173357] [ENSMUST00000176203]
Predicted Effect probably benign
Transcript: ENSMUST00000025229
AA Change: S638G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: S638G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 751 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097343
SMART Domains Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128767
AA Change: S636G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: S636G

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 749 2.53e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000129891
AA Change: S845G
SMART Domains Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: S845G

DomainStartEndE-ValueType
Blast:VWA 2 77 8e-7 BLAST
Tryp_SPc 85 365 5.69e-8 SMART
CCP 310 365 4.62e-15 SMART
CCP 372 425 2.06e-12 SMART
VWA 475 680 1.07e-40 SMART
Tryp_SPc 688 959 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133127
SMART Domains Protein: ENSMUSP00000118360
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
PDB:2WIN|L 2 43 2e-20 PDB
Blast:VWA 13 44 9e-11 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000141295
AA Change: S175G
SMART Domains Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
AA Change: S175G

DomainStartEndE-ValueType
Tryp_SPc 18 258 3.76e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146299
AA Change: S1151G

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: S1151G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
CCP 94 148 1.89e-11 SMART
VWA 103 311 1.74e-1 SMART
Tryp_SPc 315 547 1.49e-7 SMART
CCP 549 601 5.15e-1 SMART
CCP 615 670 4.62e-15 SMART
CCP 677 730 2.06e-12 SMART
VWA 780 985 1.07e-40 SMART
Tryp_SPc 993 1264 2.53e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000153400
AA Change: S133G

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231
AA Change: S133G

DomainStartEndE-ValueType
Tryp_SPc 1 217 2.36e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154526
AA Change: S636G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: S636G

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 711 5.03e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165953
SMART Domains Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173065
SMART Domains Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173357
SMART Domains Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174888
Predicted Effect probably benign
Transcript: ENSMUST00000176203
AA Change: S638G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: S638G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 713 5.03e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000176332
AA Change: S170G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184774
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Homozygotes for targeted null mutations lack the alternative complement pathway, and have reduced overall complement activity.
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa2 T A 11: 23,490,559 T231S possibly damaging Het
Arfgef1 A G 1: 10,172,842 L1091P probably benign Het
Arhgap32 A T 9: 32,255,648 K527M probably damaging Het
Caap1 T C 4: 94,550,505 N149S probably benign Het
Cc2d2a A G 5: 43,688,910 probably benign Het
Cdk13 A T 13: 17,728,178 I929K probably damaging Het
Fan1 A G 7: 64,364,660 Y608H probably damaging Het
Foxj3 A G 4: 119,620,343 N416S unknown Het
Ighv1-80 A T 12: 115,912,579 I39N probably damaging Het
Igkv11-125 A C 6: 67,914,007 E102A probably damaging Het
Mdc1 C A 17: 35,853,156 P1199T probably damaging Het
Negr1 T C 3: 156,562,225 S11P probably damaging Het
Oxsr1 T C 9: 119,242,735 R477G possibly damaging Het
Pappa T A 4: 65,176,281 F514L probably damaging Het
Pde6c G T 19: 38,178,130 D707Y probably damaging Het
Phtf1 T C 3: 103,993,906 probably benign Het
Piezo2 T A 18: 63,032,924 I2079F probably damaging Het
Ptprm T C 17: 66,920,150 D668G probably benign Het
Ptprq T C 10: 107,662,555 Y887C probably damaging Het
Rax T C 18: 65,938,630 E62G possibly damaging Het
Rnf25 T C 1: 74,594,101 E364G probably benign Het
Sipa1l3 A T 7: 29,388,065 D578E probably damaging Het
Slc14a2 T G 18: 78,209,087 D3A probably benign Het
Slc28a3 A G 13: 58,573,470 Y294H probably damaging Het
Slit1 T C 19: 41,627,248 T811A probably damaging Het
Sorcs2 T C 5: 36,025,942 T996A probably damaging Het
Tmem132b A C 5: 125,622,494 Q73P probably damaging Het
Tnrc6b T A 15: 80,902,352 I1275N possibly damaging Het
Vasp A T 7: 19,264,780 D17E probably damaging Het
Wdr19 A G 5: 65,231,071 T700A probably benign Het
Ythdc2 T G 18: 44,840,241 L315W probably damaging Het
Zfp385c A G 11: 100,629,916 V306A probably damaging Het
Other mutations in Gm20547
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Gm20547 APN 17 34881655 missense probably benign 0.03
IGL02148:Gm20547 APN 17 34860548 missense probably benign 0.22
IGL02162:Gm20547 APN 17 34857027 missense possibly damaging 0.69
IGL02992:Gm20547 APN 17 34857119 missense probably damaging 0.98
IGL03033:Gm20547 APN 17 34859516 missense probably damaging 0.99
IGL03089:Gm20547 APN 17 34861032 missense probably damaging 1.00
Posted On2015-04-16