Incidental Mutation 'IGL01701:Hmgb4'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmgb4
Ensembl Gene ENSMUSG00000048686
Gene Namehigh-mobility group box 4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL01701
Quality Score
Chromosomal Location128260212-128260957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 128260373 bp
Amino Acid Change Threonine to Isoleucine at position 134 (T134I)
Ref Sequence ENSEMBL: ENSMUSP00000059625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053830] [ENSMUST00000184063]
Predicted Effect probably benign
Transcript: ENSMUST00000053830
AA Change: T134I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000059625
Gene: ENSMUSG00000048686
AA Change: T134I

HMG 8 80 7.01e-17 SMART
HMG 92 162 3.99e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144298
Predicted Effect probably benign
Transcript: ENSMUST00000184063
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Hmgb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Hmgb4 APN 4 128260289 missense probably benign 0.00
IGL01805:Hmgb4 APN 4 128260222 intron probably benign
IGL02752:Hmgb4 APN 4 128260341 missense probably damaging 0.97
IGL02945:Hmgb4 APN 4 128260594 nonsense probably null
IGL03210:Hmgb4 APN 4 128260742 missense probably benign 0.18
R0012:Hmgb4 UTSW 4 128260725 missense probably damaging 0.99
R0012:Hmgb4 UTSW 4 128260725 missense probably damaging 0.99
R2178:Hmgb4 UTSW 4 128260482 missense probably damaging 1.00
R6565:Hmgb4 UTSW 4 128260595 missense probably benign 0.29
Posted On2014-01-21