Incidental Mutation 'R5862:Hmgxb4'
ID 453967
Institutional Source Beutler Lab
Gene Symbol Hmgxb4
Ensembl Gene ENSMUSG00000034518
Gene Name HMG box domain containing 4
Synonyms Hmgb2l1, 4733401K04Rik
MMRRC Submission 043231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R5862 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 75720305-75758606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75727683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 222 (K222R)
Ref Sequence ENSEMBL: ENSMUSP00000045126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041759] [ENSMUST00000145919] [ENSMUST00000211863]
AlphaFold Q80Y32
Predicted Effect probably damaging
Transcript: ENSMUST00000041759
AA Change: K222R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: K222R

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 noncoding transcript
Transcript: ENSMUST00000133585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134126
Predicted Effect probably benign
Transcript: ENSMUST00000145919
SMART Domains Protein: ENSMUSP00000133586
Gene: ENSMUSG00000034518

DomainStartEndE-ValueType
low complexity region 53 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151062
Predicted Effect probably benign
Transcript: ENSMUST00000211863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212372
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,615,895 (GRCm39) Y326H probably damaging Het
Alpk2 T A 18: 65,440,360 (GRCm39) K811N probably damaging Het
Ap3b1 T A 13: 94,684,278 (GRCm39) M1014K unknown Het
Bphl G A 13: 34,247,967 (GRCm39) V247I possibly damaging Het
C6 A T 15: 4,764,745 (GRCm39) D147V possibly damaging Het
Clec18a G A 8: 111,808,190 (GRCm39) H71Y possibly damaging Het
Cse1l A G 2: 166,757,127 (GRCm39) T10A probably benign Het
Cyp2b9 G T 7: 25,887,232 (GRCm39) G214C probably benign Het
Dctn6 A T 8: 34,575,571 (GRCm39) probably null Het
Dnaja4 G T 9: 54,606,625 (GRCm39) probably benign Het
Dpp8 A T 9: 64,953,004 (GRCm39) S227C probably benign Het
Ecel1 T C 1: 87,077,318 (GRCm39) N630S probably benign Het
Etnppl T C 3: 130,425,473 (GRCm39) V426A possibly damaging Het
Golgb1 A T 16: 36,746,453 (GRCm39) silent Het
Hapln3 A T 7: 78,771,639 (GRCm39) H83Q possibly damaging Het
Hsf5 C A 11: 87,513,817 (GRCm39) T294K probably damaging Het
Ighv12-2 A G 12: 114,091,557 (GRCm39) noncoding transcript Het
Lrch3 A T 16: 32,816,179 (GRCm39) H587L probably damaging Het
Macroh2a1 T A 13: 56,222,084 (GRCm39) I359L probably damaging Het
Mboat1 C T 13: 30,419,680 (GRCm39) T339M probably damaging Het
Mief1 G A 15: 80,132,586 (GRCm39) R156Q probably benign Het
Ms4a6b T A 19: 11,499,167 (GRCm39) F94I probably benign Het
Neb T A 2: 52,069,554 (GRCm39) R307* probably null Het
Neu4 A G 1: 93,950,652 (GRCm39) I147V probably benign Het
Or5m9b T C 2: 85,905,990 (GRCm39) I302T probably benign Het
Pcyox1 A G 6: 86,368,656 (GRCm39) probably null Het
Pik3ap1 T A 19: 41,320,784 (GRCm39) D145V probably damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Plekhg1 C T 10: 3,887,914 (GRCm39) T281M probably damaging Het
Ptprq T C 10: 107,401,739 (GRCm39) I1918V probably benign Het
Rasgef1a A C 6: 118,057,405 (GRCm39) R35S probably benign Het
Rnf167 A G 11: 70,541,918 (GRCm39) T308A probably damaging Het
Sfmbt2 C T 2: 10,406,863 (GRCm39) T54I possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shkbp1 G T 7: 27,042,829 (GRCm39) S536* probably null Het
Taf2 C A 15: 54,911,719 (GRCm39) V566L possibly damaging Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tyms A T 5: 30,268,408 (GRCm39) D97E probably damaging Het
Usp20 T A 2: 30,896,461 (GRCm39) L188* probably null Het
Zbtb10 T A 3: 9,330,276 (GRCm39) S545T probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Hmgxb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Hmgxb4 APN 8 75,756,131 (GRCm39) missense probably damaging 1.00
IGL00515:Hmgxb4 APN 8 75,727,539 (GRCm39) missense probably damaging 1.00
IGL02337:Hmgxb4 APN 8 75,726,259 (GRCm39) missense probably damaging 1.00
IGL03281:Hmgxb4 APN 8 75,750,790 (GRCm39) missense probably damaging 1.00
Exude UTSW 8 75,746,890 (GRCm39) missense probably damaging 1.00
golightly UTSW 8 75,756,624 (GRCm39) missense probably damaging 1.00
Spatter UTSW 8 75,748,466 (GRCm39) missense probably damaging 1.00
R0324:Hmgxb4 UTSW 8 75,725,556 (GRCm39) missense probably benign 0.00
R0749:Hmgxb4 UTSW 8 75,727,565 (GRCm39) missense probably damaging 1.00
R5910:Hmgxb4 UTSW 8 75,726,193 (GRCm39) missense probably benign 0.21
R6190:Hmgxb4 UTSW 8 75,749,927 (GRCm39) missense probably benign 0.00
R6307:Hmgxb4 UTSW 8 75,749,927 (GRCm39) missense possibly damaging 0.51
R7031:Hmgxb4 UTSW 8 75,756,200 (GRCm39) nonsense probably null
R7171:Hmgxb4 UTSW 8 75,746,890 (GRCm39) missense probably damaging 1.00
R7197:Hmgxb4 UTSW 8 75,756,624 (GRCm39) missense probably damaging 1.00
R7765:Hmgxb4 UTSW 8 75,727,436 (GRCm39) missense probably damaging 0.97
R7820:Hmgxb4 UTSW 8 75,727,574 (GRCm39) nonsense probably null
R7997:Hmgxb4 UTSW 8 75,727,956 (GRCm39) missense probably damaging 1.00
R8482:Hmgxb4 UTSW 8 75,756,222 (GRCm39) missense probably damaging 1.00
R8972:Hmgxb4 UTSW 8 75,748,466 (GRCm39) missense probably damaging 1.00
R9579:Hmgxb4 UTSW 8 75,756,638 (GRCm39) missense probably damaging 1.00
R9779:Hmgxb4 UTSW 8 75,750,629 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TGGATGACAGCAATGCCCAC -3'
(R):5'- TCGGACTCTACTAGAATTGGGTC -3'

Sequencing Primer
(F):5'- GGATGACAGCAATGCCCACAAATC -3'
(R):5'- GACTCTACTAGAATTGGGTCAAGCC -3'
Posted On 2017-02-10