Incidental Mutation 'R8972:Hmgxb4'
ID 683174
Institutional Source Beutler Lab
Gene Symbol Hmgxb4
Ensembl Gene ENSMUSG00000034518
Gene Name HMG box domain containing 4
Synonyms Hmgb2l1, 4733401K04Rik
MMRRC Submission 068806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R8972 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 75720305-75758606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75748466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 438 (W438R)
Ref Sequence ENSEMBL: ENSMUSP00000045126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041759] [ENSMUST00000109940] [ENSMUST00000145919]
AlphaFold Q80Y32
Predicted Effect probably damaging
Transcript: ENSMUST00000041759
AA Change: W438R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: W438R

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 damaging
Transcript: ENSMUST00000109940
AA Change: W41R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105566
Gene: ENSMUSG00000034518
AA Change: W41R

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
Meta Mutation Damage Score 0.9624 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (70/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,278,138 (GRCm39) S3106F probably damaging Het
Acss1 G T 2: 150,484,809 (GRCm39) R145S probably damaging Het
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adgre4 G T 17: 56,109,189 (GRCm39) G399C probably damaging Het
Alpk1 A G 3: 127,473,232 (GRCm39) S924P probably damaging Het
Anapc4 T A 5: 53,007,884 (GRCm39) D382E possibly damaging Het
Arfgef2 C T 2: 166,709,253 (GRCm39) A1110V possibly damaging Het
Arhgap20 T C 9: 51,760,311 (GRCm39) F721L probably benign Het
Arhgef39 T C 4: 43,497,185 (GRCm39) S269G probably benign Het
Asap2 C T 12: 21,279,249 (GRCm39) T377M probably damaging Het
Baiap3 G T 17: 25,466,010 (GRCm39) A558E probably benign Het
Birc6 A C 17: 75,009,313 (GRCm39) T4862P probably benign Het
Cc2d2a A G 5: 43,867,884 (GRCm39) T843A probably benign Het
Ccdc187 A T 2: 26,171,079 (GRCm39) D466E probably benign Het
Ccdc88a T G 11: 29,435,888 (GRCm39) N1270K probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cntn1 T G 15: 92,150,278 (GRCm39) Y371D probably benign Het
Cpsf1 T C 15: 76,481,528 (GRCm39) D1141G probably damaging Het
Crebbp C T 16: 3,925,935 (GRCm39) V1193I probably benign Het
Csf2ra A T 19: 61,213,597 (GRCm39) S371T probably null Het
Csf2rb2 T C 15: 78,172,115 (GRCm39) N432D probably benign Het
Cul9 A T 17: 46,854,177 (GRCm39) L175Q probably damaging Het
Dlc1 T A 8: 37,405,394 (GRCm39) R132* probably null Het
Dock5 C A 14: 68,013,749 (GRCm39) L1324F probably damaging Het
Dop1a T C 9: 86,403,300 (GRCm39) V36A possibly damaging Het
Fap A G 2: 62,378,927 (GRCm39) V158A probably benign Het
G2e3 T A 12: 51,410,277 (GRCm39) S319T possibly damaging Het
Gatd3a T C 10: 78,003,323 (GRCm39) I110V possibly damaging Het
Gphn T C 12: 78,656,013 (GRCm39) probably null Het
Gucy2g A G 19: 55,226,406 (GRCm39) I170T probably benign Het
Igkv14-126 G T 6: 67,873,329 (GRCm39) G19V probably damaging Het
Kansl1l C T 1: 66,812,101 (GRCm39) C506Y probably damaging Het
Kif2a T C 13: 107,115,543 (GRCm39) T321A probably damaging Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Map4 T A 9: 109,864,185 (GRCm39) M470K probably benign Het
Mill1 T C 7: 17,996,982 (GRCm39) V191A probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mkln1 A T 6: 31,473,681 (GRCm39) H669L probably damaging Het
Mrgprb3 A T 7: 48,293,422 (GRCm39) V43E possibly damaging Het
Mucl2 T A 15: 103,927,860 (GRCm39) probably null Het
Mybbp1a T A 11: 72,337,076 (GRCm39) I604N probably benign Het
Myo18b T C 5: 112,841,164 (GRCm39) T2210A probably benign Het
Nlrp4f T C 13: 65,330,749 (GRCm39) I881M probably benign Het
Obscn C A 11: 58,943,442 (GRCm39) A4236S probably benign Het
Or13a23-ps1 A T 7: 140,119,038 (GRCm39) M203L unknown Het
Or4a67 A C 2: 88,598,630 (GRCm39) F10V possibly damaging Het
Or8d1 A G 9: 38,767,254 (GRCm39) K299E probably damaging Het
Or8d2b G A 9: 38,789,150 (GRCm39) R226H probably benign Het
Phc3 T A 3: 31,015,926 (GRCm39) Q83L possibly damaging Het
Pira2 T C 7: 3,845,070 (GRCm39) Y396C probably damaging Het
Prss3 T A 6: 41,353,872 (GRCm39) I24F probably damaging Het
Psg21 T C 7: 18,381,293 (GRCm39) N417D probably benign Het
Ros1 G T 10: 51,999,333 (GRCm39) R1206S probably benign Het
Smg9 A T 7: 24,120,055 (GRCm39) Q386L probably benign Het
Sncb T A 13: 54,907,772 (GRCm39) probably null Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sorl1 T A 9: 41,957,848 (GRCm39) I599F probably damaging Het
Sox6 C A 7: 115,076,218 (GRCm39) E807* probably null Het
Ssu2 G A 6: 112,360,898 (GRCm39) A53V probably benign Het
Tas2r123 T C 6: 132,824,333 (GRCm39) C77R probably benign Het
Tcta T C 9: 108,181,333 (GRCm39) R117G unknown Het
Tiam1 G A 16: 89,609,894 (GRCm39) A1038V probably damaging Het
Tram2 A T 1: 21,074,273 (GRCm39) probably benign Het
Tsku C A 7: 98,001,704 (GRCm39) R209L probably damaging Het
Twnk T C 19: 45,000,149 (GRCm39) F622L probably damaging Het
Ube2t C T 1: 134,899,670 (GRCm39) T106I probably damaging Het
Usf1 C T 1: 171,245,352 (GRCm39) R255W probably damaging Het
Usp28 T A 9: 48,949,124 (GRCm39) L906Q probably null Het
Vmn2r31 T A 7: 7,399,654 (GRCm39) Y101F probably benign Het
Vmn2r42 A G 7: 8,187,331 (GRCm39) S814P probably damaging Het
Wnt2b T C 3: 104,858,475 (GRCm39) R265G possibly damaging Het
Zfp62 T G 11: 49,106,892 (GRCm39) S328A possibly damaging Het
Zfp974 T C 7: 27,610,589 (GRCm39) I379V probably benign Het
Zmynd15 T C 11: 70,355,065 (GRCm39) V484A possibly damaging Het
Zzef1 T C 11: 72,791,499 (GRCm39) L2201P 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
R5862:Hmgxb4 UTSW 8 75,727,683 (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
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'- TCCACTCTACTCTGCAAAGGTG -3'
(R):5'- CTGACTGGCACTTGCAGTAG -3'

Sequencing Primer
(F):5'- CTCTTGAGTTTGAGACCAGCCAG -3'
(R):5'- ACCAGTAGAAAAAGGCAGTCTTC -3'
Posted On 2021-10-11