Incidental Mutation 'IGL02162:Zbtb44'
ID 282521
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 # IGL02162
Quality Score
Status
Chromosome 9
Chromosomal Location 30941940-30987181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30964688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 33 (I33V)
Ref Sequence ENSEMBL: ENSMUSP00000149969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115222] [ENSMUST00000167346] [ENSMUST00000216649] [ENSMUST00000217092]
AlphaFold Q8R0A2
Predicted Effect probably benign
Transcript: ENSMUST00000115222
AA Change: I33V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: I33V

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 probably benign
Transcript: ENSMUST00000167346
AA Change: I33V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: I33V

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 probably benign
Transcript: ENSMUST00000213202
Predicted Effect unknown
Transcript: ENSMUST00000214585
AA Change: I29V
Predicted Effect probably benign
Transcript: ENSMUST00000216649
AA Change: I33V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217092
AA Change: I33V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang5 T C 14: 44,199,966 (GRCm39) L10S probably damaging Het
Cdk5rap1 T C 2: 154,177,489 (GRCm39) T577A probably damaging Het
Clca3a1 G T 3: 144,460,564 (GRCm39) P297T probably damaging Het
Col9a2 A T 4: 120,911,531 (GRCm39) probably benign Het
Ctss A G 3: 95,454,132 (GRCm39) K227R probably benign Het
Dmxl1 G A 18: 50,094,230 (GRCm39) R2902Q probably benign Het
Dnah10 G T 5: 124,881,810 (GRCm39) A2862S probably damaging Het
Elp1 A G 4: 56,796,502 (GRCm39) probably null Het
Fbxw5 C A 2: 25,393,283 (GRCm39) Q16K probably damaging Het
Fcgbp G A 7: 27,774,660 (GRCm39) C78Y probably damaging Het
Gm20547 T A 17: 35,076,003 (GRCm39) Y688F possibly damaging Het
Gpaa1 T C 15: 76,216,353 (GRCm39) probably benign Het
Grik2 T C 10: 49,298,671 (GRCm39) H63R possibly damaging Het
Ikbke A G 1: 131,201,452 (GRCm39) S132P possibly damaging Het
Kirrel2 A G 7: 30,153,089 (GRCm39) I340T probably benign Het
Lipo5 A T 19: 33,446,163 (GRCm39) probably benign Het
Nfkbie T G 17: 45,867,242 (GRCm39) probably null Het
Ntng1 G T 3: 109,842,311 (GRCm39) S154* probably null Het
Or6c208 C T 10: 129,223,973 (GRCm39) P157L probably benign Het
Or8b12b A G 9: 37,684,227 (GRCm39) I91V probably benign Het
Pbld2 T C 10: 62,907,179 (GRCm39) probably benign Het
Phaf1 C T 8: 105,966,605 (GRCm39) probably benign Het
Plec C T 15: 76,064,360 (GRCm39) M1971I probably benign Het
Ppp1r3a A T 6: 14,717,714 (GRCm39) F1067I probably damaging Het
Qpctl A G 7: 18,878,606 (GRCm39) F290L possibly damaging Het
Sorcs3 A T 19: 48,523,970 (GRCm39) Y288F probably damaging Het
St8sia3 A G 18: 64,398,651 (GRCm39) N37D probably benign Het
Vmn2r109 T C 17: 20,774,422 (GRCm39) D311G probably benign Het
Zfp267 T C 3: 36,218,210 (GRCm39) F78L probably benign Het
Zfp541 C A 7: 15,813,393 (GRCm39) T682K possibly damaging Het
Other mutations in Zbtb44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Zbtb44 APN 9 30,965,606 (GRCm39) missense possibly damaging 0.78
IGL01464:Zbtb44 APN 9 30,965,580 (GRCm39) missense probably damaging 1.00
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 2015-04-16