Incidental Mutation 'IGL00485:Hmgxb4'
ID5014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmgxb4
Ensembl Gene ENSMUSG00000034518
Gene NameHMG box domain containing 4
SynonymsHmgb2l1, 4733401K04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.221) question?
Stock #IGL00485
Quality Score
Status
Chromosome8
Chromosomal Location74993356-75031978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75029503 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 545 (S545P)
Ref Sequence ENSEMBL: ENSMUSP00000045126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041759] [ENSMUST00000078847] [ENSMUST00000109940] [ENSMUST00000145919] [ENSMUST00000165630] [ENSMUST00000211869] [ENSMUST00000212299] [ENSMUST00000212388] [ENSMUST00000212564] [ENSMUST00000212651]
Predicted Effect probably damaging
Transcript: ENSMUST00000041759
AA Change: S545P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: S545P

DomainStartEndE-ValueType
low complexity region 53 63 N/A INTRINSIC
low complexity region 93 106 N/A INTRINSIC
Pfam:DUF4171 107 232 1.3e-55 PFAM
low complexity region 250 261 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
low complexity region 317 339 N/A INTRINSIC
HMG 399 469 7.63e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078847
SMART Domains Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870

DomainStartEndE-ValueType
VHS 13 148 4.03e-68 SMART
Pfam:GAT 228 303 1.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109940
AA Change: S148P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105566
Gene: ENSMUSG00000034518
AA Change: S148P

DomainStartEndE-ValueType
HMG 2 72 7.63e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145919
SMART Domains Protein: ENSMUSP00000133586
Gene: ENSMUSG00000034518

DomainStartEndE-ValueType
low complexity region 53 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165630
SMART Domains Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870

DomainStartEndE-ValueType
VHS 13 148 4.03e-68 SMART
Pfam:GAT 212 312 5.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212231
Predicted Effect probably benign
Transcript: ENSMUST00000212299
Predicted Effect probably benign
Transcript: ENSMUST00000212388
Predicted Effect probably benign
Transcript: ENSMUST00000212564
Predicted Effect probably benign
Transcript: ENSMUST00000212651
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
BC030867 C T 11: 102,255,957 S353F possibly damaging Het
Brms1 A C 19: 5,049,042 probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
Defa30 T A 8: 21,135,451 M77K probably benign Het
E330017A01Rik A G 16: 58,635,491 Y140H probably damaging Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Gm13119 G A 4: 144,363,442 V351I probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in Hmgxb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Hmgxb4 APN 8 75000911 missense probably damaging 1.00
IGL02337:Hmgxb4 APN 8 74999631 missense probably damaging 1.00
IGL03281:Hmgxb4 APN 8 75024162 missense probably damaging 1.00
golightly UTSW 8 75029996 missense probably damaging 1.00
R0324:Hmgxb4 UTSW 8 74998928 missense probably benign 0.00
R0749:Hmgxb4 UTSW 8 75000937 missense probably damaging 1.00
R5862:Hmgxb4 UTSW 8 75001055 missense probably damaging 1.00
R5910:Hmgxb4 UTSW 8 74999565 missense probably benign 0.21
R6190:Hmgxb4 UTSW 8 75023299 missense probably benign 0.00
R6307:Hmgxb4 UTSW 8 75023299 missense possibly damaging 0.51
R7031:Hmgxb4 UTSW 8 75029572 nonsense probably null
R7171:Hmgxb4 UTSW 8 75020262 missense probably damaging 1.00
R7197:Hmgxb4 UTSW 8 75029996 missense probably damaging 1.00
R7765:Hmgxb4 UTSW 8 75000808 missense probably damaging 0.97
R7820:Hmgxb4 UTSW 8 75000946 nonsense probably null
R7997:Hmgxb4 UTSW 8 75001328 missense probably damaging 1.00
Posted On2012-04-20