Incidental Mutation 'IGL02027:Begain'
ID 184231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Begain
Ensembl Gene ENSMUSG00000040867
Gene Name brain-enriched guanylate kinase-associated
Synonyms LOC380785
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02027
Quality Score
Status
Chromosome 12
Chromosomal Location 109032187-109068217 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 109034309 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 384 (K384Q)
Ref Sequence ENSEMBL: ENSMUSP00000148247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000190647] [ENSMUST00000209829]
AlphaFold Q68EF6
Predicted Effect probably benign
Transcript: ENSMUST00000073156
AA Change: K179Q

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: K179Q

DomainStartEndE-ValueType
SCOP:d1fxkc_ 18 132 2e-4 SMART
low complexity region 285 306 N/A INTRINSIC
low complexity region 309 326 N/A INTRINSIC
low complexity region 445 460 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189236
Predicted Effect probably benign
Transcript: ENSMUST00000190647
AA Change: K179Q

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: K179Q

DomainStartEndE-ValueType
SCOP:d1fxkc_ 18 132 2e-4 SMART
low complexity region 285 306 N/A INTRINSIC
low complexity region 309 326 N/A INTRINSIC
low complexity region 445 460 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209829
AA Change: K384Q

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,431,185 T312A probably benign Het
C2cd6 T C 1: 59,060,604 I393V probably benign Het
Catsperz A G 19: 6,925,296 V5A probably benign Het
Cbx1 T A 11: 96,801,489 F67L probably damaging Het
Cerkl T C 2: 79,341,286 probably benign Het
Ctgf A G 10: 24,596,409 S117G probably damaging Het
Cubn G T 2: 13,287,594 D3259E probably damaging Het
Cyp2u1 A G 3: 131,297,951 Y307H probably damaging Het
Dcaf6 A C 1: 165,424,341 D71E probably damaging Het
Dclk3 A T 9: 111,467,843 K152* probably null Het
Fcgbp G A 7: 28,075,204 D68N probably damaging Het
Gm6576 A G 15: 27,025,866 noncoding transcript Het
Has2 T C 15: 56,668,171 T383A probably damaging Het
Htr1f T A 16: 64,926,321 K203* probably null Het
Il1f9 A T 2: 24,192,785 I191L probably benign Het
Iqgap3 T C 3: 88,087,342 I116T possibly damaging Het
Itga1 C T 13: 114,990,055 probably null Het
Kif5b T C 18: 6,209,089 D891G possibly damaging Het
Krt74 T C 15: 101,756,794 noncoding transcript Het
Lama3 A G 18: 12,516,513 K1776E probably damaging Het
Lats1 T C 10: 7,712,948 S1110P probably benign Het
Lipo3 T A 19: 33,580,519 K158* probably null Het
Lrrc9 T A 12: 72,470,334 probably benign Het
Met A G 6: 17,563,727 probably benign Het
Mmp13 A G 9: 7,272,955 Y105C probably damaging Het
Mtus1 T C 8: 40,993,601 E1151G probably damaging Het
Nov T C 15: 54,747,934 V155A probably damaging Het
Nptx1 T C 11: 119,544,596 D298G possibly damaging Het
Pdlim1 T C 19: 40,243,466 N156S probably benign Het
Pdzk1 A G 3: 96,854,673 probably benign Het
Pex5 A G 6: 124,398,888 S448P probably benign Het
Polr3e G T 7: 120,930,963 R124L probably damaging Het
Ppp2r2c C T 5: 36,952,472 R392C probably damaging Het
Prpf4b T C 13: 34,889,571 I543T probably benign Het
Prr27 A G 5: 87,843,443 S305G possibly damaging Het
Repin1 A G 6: 48,596,473 H56R probably damaging Het
Ryr2 A T 13: 11,597,112 L408H probably damaging Het
Sbf2 T A 7: 110,461,141 Q205H probably damaging Het
Sgo2b G A 8: 63,926,829 P990S probably benign Het
Slc33a1 G T 3: 63,948,141 P361Q probably damaging Het
Tmem98 T C 11: 80,815,657 probably benign Het
Ttc25 C T 11: 100,569,902 T495M probably damaging Het
Vmn1r16 T C 6: 57,323,059 T193A possibly damaging Het
Vmn1r5 T A 6: 56,985,655 I105K probably damaging Het
Zfp473 A T 7: 44,738,038 probably benign Het
Other mutations in Begain
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Begain APN 12 109033645 missense probably benign 0.00
IGL02186:Begain APN 12 109033352 missense probably damaging 1.00
IGL02219:Begain APN 12 109033730 missense probably benign 0.01
IGL02555:Begain APN 12 109034189 missense probably damaging 1.00
FR4342:Begain UTSW 12 109033418 unclassified probably benign
R0335:Begain UTSW 12 109038934 missense probably damaging 1.00
R1815:Begain UTSW 12 109034107 missense probably damaging 1.00
R1824:Begain UTSW 12 109033099 splice site probably null
R1837:Begain UTSW 12 109035323 splice site probably benign
R1839:Begain UTSW 12 109035323 splice site probably benign
R2110:Begain UTSW 12 109033917 nonsense probably null
R2849:Begain UTSW 12 109033118 missense probably benign 0.17
R4480:Begain UTSW 12 109034123 missense probably damaging 1.00
R4692:Begain UTSW 12 109033892 missense probably damaging 1.00
R6425:Begain UTSW 12 109033394 missense probably damaging 1.00
R7205:Begain UTSW 12 109038868 missense possibly damaging 0.64
R7354:Begain UTSW 12 109033289 missense possibly damaging 0.91
R7369:Begain UTSW 12 109033927 missense possibly damaging 0.51
R7683:Begain UTSW 12 109033487 missense unknown
R7755:Begain UTSW 12 109052876 missense probably benign 0.01
R7807:Begain UTSW 12 109038930 missense probably damaging 1.00
R9207:Begain UTSW 12 109033324 missense probably damaging 1.00
R9269:Begain UTSW 12 109033193 missense possibly damaging 0.51
R9368:Begain UTSW 12 109033992 missense probably damaging 1.00
RF008:Begain UTSW 12 109033437 nonsense probably null
RF012:Begain UTSW 12 109033427 unclassified probably benign
RF014:Begain UTSW 12 109033422 unclassified probably benign
RF020:Begain UTSW 12 109033424 unclassified probably benign
RF024:Begain UTSW 12 109033437 nonsense probably null
RF025:Begain UTSW 12 109033424 unclassified probably benign
RF049:Begain UTSW 12 109033414 unclassified probably benign
RF056:Begain UTSW 12 109033436 unclassified probably benign
Posted On 2014-05-07