Incidental Mutation 'IGL02751:Hmg20b'
ID306313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmg20b
Ensembl Gene ENSMUSG00000020232
Gene Namehigh mobility group 20B
SynonymsBRAF35, BRCA2-associated factor 35, Smarce1r, Hmgxb2, Hmgx2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.301) question?
Stock #IGL02751
Quality Score
Status
Chromosome10
Chromosomal Location81346048-81350480 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 81346551 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020454] [ENSMUST00000045102] [ENSMUST00000105323] [ENSMUST00000105324] [ENSMUST00000122993] [ENSMUST00000154609] [ENSMUST00000167481]
Predicted Effect probably benign
Transcript: ENSMUST00000020454
SMART Domains Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045102
SMART Domains Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
PDZ 105 179 1.19e-7 SMART
low complexity region 224 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105323
SMART Domains Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105324
SMART Domains Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122993
SMART Domains Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
Pfam:HMG_box 1 36 1.2e-7 PFAM
coiled coil region 88 155 N/A INTRINSIC
low complexity region 164 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140268
Predicted Effect probably benign
Transcript: ENSMUST00000141171
SMART Domains Protein: ENSMUSP00000117322
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
HMG 19 89 8.68e-22 SMART
coiled coil region 139 206 N/A INTRINSIC
low complexity region 234 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148839
Predicted Effect probably benign
Transcript: ENSMUST00000154609
SMART Domains Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167481
SMART Domains Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Hmg20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Hmg20b APN 10 81347475 missense probably benign 0.44
PIT4585001:Hmg20b UTSW 10 81348955 missense possibly damaging 0.81
R0903:Hmg20b UTSW 10 81348495 critical splice donor site probably null
R2337:Hmg20b UTSW 10 81348513 missense probably damaging 1.00
R2843:Hmg20b UTSW 10 81346570 missense probably benign 0.18
R4646:Hmg20b UTSW 10 81348582 missense probably damaging 0.99
R4647:Hmg20b UTSW 10 81348582 missense probably damaging 0.99
R4648:Hmg20b UTSW 10 81348582 missense probably damaging 0.99
R4850:Hmg20b UTSW 10 81346927 missense probably damaging 1.00
R6863:Hmg20b UTSW 10 81347020 missense probably damaging 1.00
R7567:Hmg20b UTSW 10 81346659 missense not run
Z1088:Hmg20b UTSW 10 81346573 missense probably damaging 0.98
Posted On2015-04-16