Incidental Mutation 'IGL00501:Zbtb44'
ID 4919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb44
Ensembl Gene ENSMUSG00000047412
Gene Name zinc finger and BTB domain containing 44
Synonyms Btbd15, 6030404E16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # IGL00501
Quality Score
Status
Chromosome 9
Chromosomal Location 30941940-30987181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30965606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 339 (I339V)
Ref Sequence ENSEMBL: ENSMUSP00000149969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115222] [ENSMUST00000167346] [ENSMUST00000216649] [ENSMUST00000217092]
AlphaFold Q8R0A2
Predicted Effect possibly damaging
Transcript: ENSMUST00000115222
AA Change: I339V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: I339V

DomainStartEndE-ValueType
BTB 31 128 3.58e-26 SMART
low complexity region 304 318 N/A INTRINSIC
ZnF_C2H2 399 421 2.43e-4 SMART
ZnF_C2H2 427 449 3.11e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167346
AA Change: I339V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: I339V

DomainStartEndE-ValueType
BTB 31 128 3.58e-26 SMART
low complexity region 304 318 N/A INTRINSIC
ZnF_C2H2 381 403 2.43e-4 SMART
ZnF_C2H2 409 431 3.11e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000213202
AA Change: I20V
Predicted Effect unknown
Transcript: ENSMUST00000214585
AA Change: I335V
Predicted Effect possibly damaging
Transcript: ENSMUST00000216649
AA Change: I339V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217092
AA Change: I339V

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,493,895 (GRCm39) I409V probably damaging Het
Adck1 A G 12: 88,335,192 (GRCm39) N26S probably benign Het
Adgrf5 G A 17: 43,760,806 (GRCm39) A834T possibly damaging Het
Agpat5 T C 8: 18,926,148 (GRCm39) probably null Het
Ano8 A C 8: 71,931,793 (GRCm39) probably null Het
Baz2a T A 10: 127,950,494 (GRCm39) M476K probably benign Het
Cgas G A 9: 78,342,869 (GRCm39) A311V probably damaging Het
Col16a1 A G 4: 129,988,345 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,910,195 (GRCm39) I113N probably benign Het
Dstn A G 2: 143,784,094 (GRCm39) T146A probably benign Het
Eif2ak1 A T 5: 143,826,288 (GRCm39) M434L probably damaging Het
Gba2 G A 4: 43,568,477 (GRCm39) A663V probably damaging Het
Gja10 T C 4: 32,601,230 (GRCm39) T385A possibly damaging Het
Gm42878 A C 5: 121,671,406 (GRCm39) I209R probably damaging Het
Grk1 T A 8: 13,457,835 (GRCm39) V245E probably damaging Het
H2az1 T C 3: 137,571,357 (GRCm39) V53A probably damaging Het
Hycc1 A G 5: 24,190,843 (GRCm39) probably benign Het
Kctd16 G A 18: 40,390,440 (GRCm39) probably benign Het
Klhdc8b C T 9: 108,326,105 (GRCm39) R263H probably benign Het
Lcn8 T C 2: 25,545,119 (GRCm39) probably benign Het
Ldlr T C 9: 21,646,657 (GRCm39) probably null Het
Lrrc40 T C 3: 157,766,919 (GRCm39) F458S probably damaging Het
Lypla1 T A 1: 4,898,810 (GRCm39) H35Q probably damaging Het
Mink1 C T 11: 70,494,638 (GRCm39) T273I probably damaging Het
Neb A G 2: 52,185,356 (GRCm39) F959L probably benign Het
Nedd4l A T 18: 65,341,163 (GRCm39) D704V probably damaging Het
Peak1 C T 9: 56,134,610 (GRCm39) E1274K probably damaging Het
Prkcz G T 4: 155,378,858 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,359,558 (GRCm39) N40K probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spink5 A G 18: 44,110,806 (GRCm39) T126A probably damaging Het
Tanc2 T C 11: 105,814,046 (GRCm39) V1830A probably benign Het
Tmem104 T C 11: 115,134,763 (GRCm39) I433T probably damaging Het
Trim10 G A 17: 37,187,939 (GRCm39) R385K probably benign Het
Other mutations in Zbtb44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Zbtb44 APN 9 30,965,580 (GRCm39) missense probably damaging 1.00
IGL02162:Zbtb44 APN 9 30,964,688 (GRCm39) missense probably benign 0.00
IGL03295:Zbtb44 APN 9 30,964,753 (GRCm39) missense probably benign 0.00
IGL03412:Zbtb44 APN 9 30,964,763 (GRCm39) missense probably benign 0.08
R0137:Zbtb44 UTSW 9 30,978,006 (GRCm39) missense probably damaging 1.00
R2182:Zbtb44 UTSW 9 30,977,972 (GRCm39) missense possibly damaging 0.94
R2511:Zbtb44 UTSW 9 30,965,539 (GRCm39) missense probably damaging 0.99
R4501:Zbtb44 UTSW 9 30,965,462 (GRCm39) missense probably damaging 1.00
R4557:Zbtb44 UTSW 9 30,975,544 (GRCm39) missense probably damaging 1.00
R4841:Zbtb44 UTSW 9 30,964,701 (GRCm39) missense probably damaging 1.00
R5391:Zbtb44 UTSW 9 30,964,601 (GRCm39) splice site probably null
R5639:Zbtb44 UTSW 9 30,965,348 (GRCm39) missense probably damaging 0.98
R6001:Zbtb44 UTSW 9 30,965,090 (GRCm39) missense probably damaging 1.00
R6170:Zbtb44 UTSW 9 30,964,678 (GRCm39) missense probably damaging 1.00
R6415:Zbtb44 UTSW 9 30,975,510 (GRCm39) missense possibly damaging 0.93
R7658:Zbtb44 UTSW 9 30,965,375 (GRCm39) missense probably benign 0.00
R7913:Zbtb44 UTSW 9 30,965,504 (GRCm39) nonsense probably null
R9155:Zbtb44 UTSW 9 30,965,309 (GRCm39) missense probably benign
R9226:Zbtb44 UTSW 9 30,975,524 (GRCm39) missense possibly damaging 0.90
Posted On 2012-04-20