Incidental Mutation 'IGL02709:Zbtb48'
ID304494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb48
Ensembl Gene ENSMUSG00000028952
Gene Namezinc finger and BTB domain containing 48
Synonyms0610011D15Rik, Hkr3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02709
Quality Score
Status
Chromosome4
Chromosomal Location152019774-152027671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152021394 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 418 (H418R)
Ref Sequence ENSEMBL: ENSMUSP00000067521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066715] [ENSMUST00000097773] [ENSMUST00000155389] [ENSMUST00000156748]
PDB Structure
Solution structure of the tandem four zf-C2H2 domain repeats of murine GLI-Kruppel family member HKR3 [SOLUTION NMR]
Crystal structure of BTB domain from mouse HKR3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000066715
AA Change: H418R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: H418R

DomainStartEndE-ValueType
BTB 26 119 1.35e-21 SMART
ZnF_C2H2 284 306 1.64e-1 SMART
ZnF_C2H2 312 332 2.06e1 SMART
ZnF_C2H2 343 365 5.99e-4 SMART
ZnF_C2H2 371 394 9.58e-3 SMART
ZnF_C2H2 400 423 2.49e-1 SMART
ZnF_C2H2 429 452 2.57e-3 SMART
ZnF_C2H2 458 480 9.73e-4 SMART
ZnF_C2H2 486 508 3.21e-4 SMART
ZnF_C2H2 514 537 1.67e-2 SMART
ZnF_C2H2 543 565 1.95e-3 SMART
ZnF_C2H2 571 593 5.67e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097773
SMART Domains Protein: ENSMUSP00000095380
Gene: ENSMUSG00000073700

DomainStartEndE-ValueType
BTB 35 133 2.4e-27 SMART
BACK 138 239 3.93e-27 SMART
Kelch 287 334 1.08e0 SMART
Kelch 336 382 1.3e-7 SMART
Kelch 383 422 5.88e-1 SMART
Kelch 464 512 2.97e-1 SMART
Kelch 513 560 6.57e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147895
Predicted Effect possibly damaging
Transcript: ENSMUST00000155389
AA Change: T451A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952
AA Change: T451A

DomainStartEndE-ValueType
BTB 26 119 1.35e-21 SMART
ZnF_C2H2 284 306 1.64e-1 SMART
ZnF_C2H2 312 332 2.06e1 SMART
ZnF_C2H2 343 365 5.99e-4 SMART
ZnF_C2H2 371 394 9.58e-3 SMART
low complexity region 403 418 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155441
Predicted Effect probably benign
Transcript: ENSMUST00000156748
SMART Domains Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952

DomainStartEndE-ValueType
ZnF_C2H2 80 102 1.64e-1 SMART
ZnF_C2H2 108 128 2.06e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Fubp3 A G 2: 31,595,331 probably benign Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Other mutations in Zbtb48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Zbtb48 APN 4 152021394 missense probably damaging 0.99
Etna UTSW 4 152021607 missense probably damaging 0.98
I0000:Zbtb48 UTSW 4 152019858 missense probably benign 0.34
R1515:Zbtb48 UTSW 4 152020201 unclassified probably null
R1844:Zbtb48 UTSW 4 152026498 missense probably benign
R2383:Zbtb48 UTSW 4 152026950 missense probably damaging 0.96
R3618:Zbtb48 UTSW 4 152026027 splice site probably null
R3619:Zbtb48 UTSW 4 152026027 splice site probably null
R5427:Zbtb48 UTSW 4 152020651 missense probably damaging 1.00
R5696:Zbtb48 UTSW 4 152020610 missense probably damaging 0.99
R6155:Zbtb48 UTSW 4 152022038 unclassified probably null
R6157:Zbtb48 UTSW 4 152021607 missense probably damaging 0.98
R6551:Zbtb48 UTSW 4 152022221 missense probably benign 0.00
Posted On2015-04-16