Incidental Mutation 'IGL02186:Begain'
ID283670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Begain
Ensembl Gene ENSMUSG00000040867
Gene Namebrain-enriched guanylate kinase-associated
SynonymsLOC380785
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02186
Quality Score
Status
Chromosome12
Chromosomal Location109032187-109068217 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109033352 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 703 (Y703H)
Ref Sequence ENSEMBL: ENSMUSP00000148247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047115] [ENSMUST00000167816] [ENSMUST00000190647] [ENSMUST00000209829] [ENSMUST00000221510]
Predicted Effect probably benign
Transcript: ENSMUST00000047115
SMART Domains Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877

DomainStartEndE-ValueType
low complexity region 120 132 N/A INTRINSIC
low complexity region 180 206 N/A INTRINSIC
WD40 226 268 1.83e-7 SMART
WD40 272 311 6.73e-6 SMART
WD40 312 353 2.58e-1 SMART
Blast:WD40 356 402 7e-11 BLAST
Blast:WD40 407 445 6e-8 BLAST
WD40 451 492 9.6e-2 SMART
WD40 495 535 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167816
SMART Domains Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877

DomainStartEndE-ValueType
low complexity region 120 132 N/A INTRINSIC
low complexity region 180 206 N/A INTRINSIC
WD40 226 268 1.83e-7 SMART
WD40 272 311 6.73e-6 SMART
WD40 312 353 2.58e-1 SMART
Blast:WD40 356 402 7e-11 BLAST
Blast:WD40 407 445 6e-8 BLAST
WD40 451 492 9.6e-2 SMART
WD40 495 535 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189236
Predicted Effect probably damaging
Transcript: ENSMUST00000190647
AA Change: Y498H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: Y498H

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 probably damaging
Transcript: ENSMUST00000209829
AA Change: Y703H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221510
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,468 F100S unknown Het
Abca3 A G 17: 24,377,740 Y389C possibly damaging Het
Acrbp G T 6: 125,054,810 probably null Het
Adam21 G A 12: 81,559,209 T593I possibly damaging Het
Adipor1 T A 1: 134,425,960 M161K probably benign Het
Agrp A T 8: 105,567,189 N48K probably benign Het
Asprv1 A T 6: 86,628,918 M249L probably damaging Het
Bspry T A 4: 62,495,989 probably benign Het
Cct8l1 T G 5: 25,516,838 S184A probably benign Het
Cdk13 C T 13: 17,772,527 V549I probably benign Het
Cdyl2 C T 8: 116,579,286 R412Q possibly damaging Het
Celf6 T C 9: 59,603,525 S205P probably damaging Het
Cltc G A 11: 86,704,985 A1263V possibly damaging Het
Cltc C A 11: 86,704,986 A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,793 F62L probably damaging Het
Dlec1 T A 9: 119,143,627 C1473S probably benign Het
Dmbt1 T A 7: 131,093,256 probably benign Het
Dnase1 G A 16: 4,039,032 V176I probably benign Het
Dusp1 G T 17: 26,507,058 Y220* probably null Het
Enpp3 A C 10: 24,791,983 probably benign Het
Exosc10 T C 4: 148,565,298 L395P probably damaging Het
Fn1 T C 1: 71,638,534 K533R probably damaging Het
Gcm2 T A 13: 41,104,649 T168S possibly damaging Het
Gm9924 C A 5: 31,095,147 probably benign Het
Ifrd1 A G 12: 40,214,093 V101A probably benign Het
Iqsec1 G T 6: 90,676,877 Q629K probably damaging Het
Kcnma1 T A 14: 23,526,813 M254L probably benign Het
Krit1 T C 5: 3,809,733 probably benign Het
Letm1 T C 5: 33,745,047 K633E probably benign Het
Mfsd1 A G 3: 67,596,595 I307V probably benign Het
Mtrr T C 13: 68,564,357 T637A probably benign Het
Naxe C A 3: 88,056,998 D212Y probably damaging Het
Nlk A T 11: 78,586,936 V327D probably damaging Het
Olfr1131 A T 2: 87,629,371 I187F probably benign Het
Olfr38 A G 6: 42,762,946 K298R probably null Het
Pdzd8 C T 19: 59,300,628 G780D probably damaging Het
Prune1 T C 3: 95,259,237 probably benign Het
Qser1 A T 2: 104,788,261 H645Q probably damaging Het
Rd3l A G 12: 111,979,467 Y193H probably benign Het
Reln A G 5: 21,909,958 Y3119H probably damaging Het
Scel C T 14: 103,564,821 A219V probably benign Het
Skint11 A T 4: 114,244,636 Q91L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc5a5 C A 8: 70,886,120 D516Y possibly damaging Het
Slc8b1 G A 5: 120,527,863 probably null Het
Slc9a3 A G 13: 74,163,114 E576G possibly damaging Het
Slco1b2 A T 6: 141,634,545 probably benign Het
Smc5 A G 19: 23,231,859 V647A probably damaging Het
Snph T C 2: 151,594,343 N222D possibly damaging Het
Srbd1 A G 17: 86,109,231 F500L probably benign Het
Stxbp6 T C 12: 44,902,023 D101G probably damaging Het
Taar7b A G 10: 23,999,981 I15V probably benign Het
Tdrd12 G T 7: 35,501,401 N338K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem219 A T 7: 126,896,816 D128E probably benign Het
Togaram2 A G 17: 71,685,171 T3A possibly damaging Het
Ttn C T 2: 76,894,283 probably benign Het
Uchl1 C A 5: 66,677,039 C47* probably null Het
Unc79 T G 12: 103,011,283 S182A probably benign Het
Vmn2r1 A G 3: 64,081,717 T26A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vps54 T C 11: 21,306,947 V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 V126G possibly damaging Het
Zmym2 A G 14: 56,943,351 T907A probably benign Het
Other mutations in Begain
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Begain APN 12 109033645 missense probably benign 0.00
IGL02027:Begain APN 12 109034309 missense possibly damaging 0.80
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 unclassified 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
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 On2015-04-16