Incidental Mutation 'R7807:Begain'
ID 600887
Institutional Source Beutler Lab
Gene Symbol Begain
Ensembl Gene ENSMUSG00000040867
Gene Name brain-enriched guanylate kinase-associated
Synonyms LOC380785
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 108998113-109034143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109004856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000140393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000190647] [ENSMUST00000209829]
AlphaFold Q68EF6
Predicted Effect probably damaging
Transcript: ENSMUST00000190647
AA Change: D52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: D52G

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: D257G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S probably damaging Het
Other mutations in Begain
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Begain APN 12 108,999,571 (GRCm39) missense probably benign 0.00
IGL02027:Begain APN 12 109,000,235 (GRCm39) missense possibly damaging 0.80
IGL02186:Begain APN 12 108,999,278 (GRCm39) missense probably damaging 1.00
IGL02219:Begain APN 12 108,999,656 (GRCm39) missense probably benign 0.01
IGL02555:Begain APN 12 109,000,115 (GRCm39) missense probably damaging 1.00
FR4342:Begain UTSW 12 108,999,344 (GRCm39) unclassified probably benign
R0335:Begain UTSW 12 109,004,860 (GRCm39) missense probably damaging 1.00
R1815:Begain UTSW 12 109,000,033 (GRCm39) missense probably damaging 1.00
R1824:Begain UTSW 12 108,999,025 (GRCm39) splice site probably null
R1837:Begain UTSW 12 109,001,249 (GRCm39) splice site probably benign
R1839:Begain UTSW 12 109,001,249 (GRCm39) splice site probably benign
R2110:Begain UTSW 12 108,999,843 (GRCm39) nonsense probably null
R2849:Begain UTSW 12 108,999,044 (GRCm39) missense probably benign 0.17
R4480:Begain UTSW 12 109,000,049 (GRCm39) missense probably damaging 1.00
R4692:Begain UTSW 12 108,999,818 (GRCm39) missense probably damaging 1.00
R6425:Begain UTSW 12 108,999,320 (GRCm39) missense probably damaging 1.00
R7205:Begain UTSW 12 109,004,794 (GRCm39) missense possibly damaging 0.64
R7354:Begain UTSW 12 108,999,215 (GRCm39) missense possibly damaging 0.91
R7369:Begain UTSW 12 108,999,853 (GRCm39) missense possibly damaging 0.51
R7683:Begain UTSW 12 108,999,413 (GRCm39) missense unknown
R7755:Begain UTSW 12 109,018,802 (GRCm39) missense probably benign 0.01
R9207:Begain UTSW 12 108,999,250 (GRCm39) missense probably damaging 1.00
R9269:Begain UTSW 12 108,999,119 (GRCm39) missense possibly damaging 0.51
R9368:Begain UTSW 12 108,999,918 (GRCm39) missense probably damaging 1.00
RF008:Begain UTSW 12 108,999,363 (GRCm39) nonsense probably null
RF012:Begain UTSW 12 108,999,353 (GRCm39) unclassified probably benign
RF014:Begain UTSW 12 108,999,348 (GRCm39) unclassified probably benign
RF020:Begain UTSW 12 108,999,350 (GRCm39) unclassified probably benign
RF024:Begain UTSW 12 108,999,363 (GRCm39) nonsense probably null
RF025:Begain UTSW 12 108,999,350 (GRCm39) unclassified probably benign
RF049:Begain UTSW 12 108,999,340 (GRCm39) unclassified probably benign
RF056:Begain UTSW 12 108,999,362 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACTAGTATCAGTGGGACCAGATTC -3'
(R):5'- TTGAGTGCACAGTACATGCCC -3'

Sequencing Primer
(F):5'- TGGGACCAGATTCAAGGCCTC -3'
(R):5'- CACGGCATGCCTGGCTG -3'
Posted On 2019-11-26