Incidental Mutation 'IGL01712:Zbtb42'
ID 104839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb42
Ensembl Gene ENSMUSG00000037638
Gene Name zinc finger and BTB domain containing 42
Synonyms simiRP58, Gm5188
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01712
Quality Score
Status
Chromosome 12
Chromosomal Location 112645262-112649181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112646718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 298 (C298R)
Ref Sequence ENSEMBL: ENSMUSP00000133152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169593] [ENSMUST00000173942] [ENSMUST00000174780]
AlphaFold Q811H0
Predicted Effect probably benign
Transcript: ENSMUST00000169593
AA Change: C298R

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: C298R

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
BTB 24 122 8.88e-22 SMART
low complexity region 226 241 N/A INTRINSIC
ZnF_C2H2 292 314 3.02e0 SMART
ZnF_C2H2 332 354 2.02e-1 SMART
ZnF_C2H2 360 382 5.06e-2 SMART
ZnF_C2H2 388 411 2.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173942
SMART Domains Protein: ENSMUSP00000133987
Gene: ENSMUSG00000037638

DomainStartEndE-ValueType
Blast:BTB 1 40 8e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174780
SMART Domains Protein: ENSMUSP00000134028
Gene: ENSMUSG00000037638

DomainStartEndE-ValueType
Pfam:BTB 1 40 1.3e-5 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,321 (GRCm39) I164N possibly damaging Het
Adgrb3 A G 1: 25,865,360 (GRCm39) V161A probably benign Het
Arhgdib G A 6: 136,901,195 (GRCm39) T178M probably damaging Het
Atp11a T A 8: 12,901,138 (GRCm39) I989K probably benign Het
Bcam T C 7: 19,492,692 (GRCm39) S498G probably damaging Het
Bcas3 A G 11: 85,471,874 (GRCm39) I728V probably damaging Het
Cep57 G T 9: 13,724,713 (GRCm39) P119Q possibly damaging Het
Cimip2a T C 2: 25,108,804 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,036 (GRCm39) I73N probably damaging Het
Cpa4 A G 6: 30,590,815 (GRCm39) D371G possibly damaging Het
Dnah7a A G 1: 53,462,429 (GRCm39) S3721P probably benign Het
Fcrla T C 1: 170,749,192 (GRCm39) probably null Het
Foxg1 T C 12: 49,432,403 (GRCm39) S379P possibly damaging Het
Gatm T A 2: 122,431,306 (GRCm39) Y227F possibly damaging Het
Grid2 A T 6: 64,642,899 (GRCm39) D887V possibly damaging Het
Gtpbp6 A T 5: 110,252,245 (GRCm39) I429N probably benign Het
Ighmbp2 A G 19: 3,323,038 (GRCm39) probably benign Het
Irs4 T C X: 140,505,395 (GRCm39) N934D unknown Het
Kif16b T A 2: 142,490,391 (GRCm39) N1257I probably damaging Het
L1cam T C X: 72,908,044 (GRCm39) Y169C probably damaging Het
L3mbtl3 A T 10: 26,152,133 (GRCm39) M821K probably damaging Het
Lig3 A G 11: 82,680,367 (GRCm39) probably benign Het
Lpin2 T A 17: 71,522,063 (GRCm39) D32E probably damaging Het
Mcoln3 T C 3: 145,834,019 (GRCm39) probably benign Het
Mgst2 T C 3: 51,571,992 (GRCm39) V40A probably damaging Het
Mov10l1 T C 15: 88,908,969 (GRCm39) S997P probably damaging Het
Mycbpap G T 11: 94,403,481 (GRCm39) H187Q possibly damaging Het
Onecut2 T A 18: 64,519,673 (GRCm39) S478T probably damaging Het
Or2n1d A T 17: 38,646,848 (GRCm39) T267S probably benign Het
Or52h7 T C 7: 104,214,226 (GRCm39) V266A probably benign Het
Pcdhb5 A T 18: 37,454,306 (GRCm39) I229F probably damaging Het
Pfas A G 11: 68,881,886 (GRCm39) V933A probably benign Het
Phldb2 A T 16: 45,571,792 (GRCm39) I1200N probably damaging Het
Pla2g4e C A 2: 120,019,884 (GRCm39) probably null Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Rhot2 A G 17: 26,060,334 (GRCm39) probably null Het
Serpina3f C T 12: 104,184,657 (GRCm39) P267L probably damaging Het
Sppl2a C T 2: 126,746,823 (GRCm39) probably benign Het
Tas2r122 A T 6: 132,688,725 (GRCm39) M56K possibly damaging Het
Tbxas1 A G 6: 39,057,994 (GRCm39) T450A probably benign Het
Tex16 T C X: 111,003,451 (GRCm39) S87P probably damaging Het
Them7 T A 2: 105,209,230 (GRCm39) F183L possibly damaging Het
Tmbim7 A G 5: 3,720,074 (GRCm39) T116A probably damaging Het
Tomm40 G T 7: 19,437,288 (GRCm39) S224R probably benign Het
Top3a A T 11: 60,652,562 (GRCm39) I84N probably damaging Het
Vmn1r28 A G 6: 58,242,393 (GRCm39) T79A probably benign Het
Vmn2r61 A T 7: 41,909,661 (GRCm39) Y62F probably damaging Het
Zfp395 G A 14: 65,623,836 (GRCm39) E102K probably damaging Het
Other mutations in Zbtb42
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0607:Zbtb42 UTSW 12 112,647,061 (GRCm39) missense probably benign 0.32
R4586:Zbtb42 UTSW 12 112,646,976 (GRCm39) missense probably damaging 1.00
R4607:Zbtb42 UTSW 12 112,646,976 (GRCm39) missense probably damaging 1.00
R4609:Zbtb42 UTSW 12 112,646,976 (GRCm39) missense probably damaging 1.00
R4890:Zbtb42 UTSW 12 112,646,861 (GRCm39) nonsense probably null
R5143:Zbtb42 UTSW 12 112,645,948 (GRCm39) missense probably damaging 1.00
R5933:Zbtb42 UTSW 12 112,647,055 (GRCm39) missense probably damaging 1.00
R6066:Zbtb42 UTSW 12 112,646,041 (GRCm39) missense probably damaging 1.00
R6245:Zbtb42 UTSW 12 112,645,969 (GRCm39) missense probably damaging 1.00
R6974:Zbtb42 UTSW 12 112,646,824 (GRCm39) missense probably damaging 0.97
R8092:Zbtb42 UTSW 12 112,646,275 (GRCm39) missense probably damaging 1.00
R8253:Zbtb42 UTSW 12 112,646,746 (GRCm39) missense probably damaging 1.00
R8355:Zbtb42 UTSW 12 112,645,969 (GRCm39) missense probably damaging 1.00
R9086:Zbtb42 UTSW 12 112,645,848 (GRCm39) missense probably benign 0.35
Z1176:Zbtb42 UTSW 12 112,646,633 (GRCm39) missense probably benign 0.01
Posted On 2014-01-21