Incidental Mutation 'IGL00095:Zbtb48'
ID1683
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 #IGL00095
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Zbtb48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02709: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 splice site 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 splice site probably null
R6157:Zbtb48 UTSW 4 152021607 missense probably damaging 0.98
R6551:Zbtb48 UTSW 4 152022221 missense probably benign 0.00
R8161:Zbtb48 UTSW 4 152022110 missense probably damaging 0.99
R8252:Zbtb48 UTSW 4 152020887 missense probably damaging 0.99
R8370:Zbtb48 UTSW 4 152021287 critical splice donor site probably null
Posted On2011-07-12