Incidental Mutation 'R9086:Zbtb42'
ID 690622
Institutional Source Beutler Lab
Gene Symbol Zbtb42
Ensembl Gene ENSMUSG00000037638
Gene Name zinc finger and BTB domain containing 42
Synonyms simiRP58, Gm5188
MMRRC Submission 068905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9086 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112645262-112649181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112645848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 8 (V8I)
Ref Sequence ENSEMBL: ENSMUSP00000133152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144550] [ENSMUST00000169593] [ENSMUST00000173942] [ENSMUST00000174780]
AlphaFold Q811H0
Predicted Effect probably benign
Transcript: ENSMUST00000144550
SMART Domains Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Pfam:Pkinase 150 202 2.6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169593
AA Change: V8I

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: V8I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Ank1 T C 8: 23,589,636 (GRCm39) V608A probably damaging Het
Arl14epl T C 18: 47,065,661 (GRCm39) V142A possibly damaging Het
Atp8a1 T C 5: 67,932,159 (GRCm39) D210G Het
Baz1b T C 5: 135,260,538 (GRCm39) F1112L probably damaging Het
Cage1 T A 13: 38,206,898 (GRCm39) I316F probably damaging Het
Car2 A C 3: 14,952,968 (GRCm39) T37P probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cntnap3 T A 13: 64,929,573 (GRCm39) D542V probably damaging Het
Coro1b T C 19: 4,202,525 (GRCm39) Y338H probably damaging Het
Ctdspl2 G A 2: 121,838,298 (GRCm39) probably null Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dpm2 T C 2: 32,462,391 (GRCm39) L59P probably damaging Het
Duoxa2 A G 2: 122,131,821 (GRCm39) Y170C probably damaging Het
Dus2 T A 8: 106,742,573 (GRCm39) Y34* probably null Het
Dzip3 A G 16: 48,781,493 (GRCm39) I266T possibly damaging Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Echdc2 C T 4: 108,027,076 (GRCm39) Q74* probably null Het
Efhc1 T C 1: 21,025,592 (GRCm39) Y33H probably damaging Het
Fam20a A T 11: 109,566,754 (GRCm39) C378* probably null Het
Fbxo25 C A 8: 13,989,621 (GRCm39) P356Q probably damaging Het
Fig4 G T 10: 41,161,399 (GRCm39) T59K possibly damaging Het
Gbp10 T A 5: 105,366,369 (GRCm39) M512L probably benign Het
Gdf10 T A 14: 33,654,221 (GRCm39) Y243N probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
H1f9 A T 11: 94,859,083 (GRCm39) K126M possibly damaging Het
Ints1 A T 5: 139,743,947 (GRCm39) H1540Q probably benign Het
Lipo3 A T 19: 33,534,529 (GRCm39) L310Q probably benign Het
Lrrk2 A G 15: 91,640,051 (GRCm39) K1532R probably benign Het
Ltc4s T C 11: 50,128,074 (GRCm39) Y59C probably damaging Het
Macf1 T A 4: 123,377,944 (GRCm39) H1427L probably damaging Het
Mroh2b A G 15: 4,982,754 (GRCm39) probably null Het
Mthfd1l A T 10: 3,923,412 (GRCm39) D53V probably benign Het
Muc4 C A 16: 32,577,842 (GRCm39) P303Q Het
Nrxn1 A G 17: 90,469,792 (GRCm39) F1293S probably damaging Het
Nrxn2 G A 19: 6,540,108 (GRCm39) E803K probably damaging Het
Nup155 A G 15: 8,177,830 (GRCm39) D1071G possibly damaging Het
Or1l4b T A 2: 37,036,426 (GRCm39) D67E probably damaging Het
Or2ag18 A T 7: 106,405,126 (GRCm39) I181N probably benign Het
Or2ak6 T A 11: 58,592,955 (GRCm39) S143T possibly damaging Het
Papln A G 12: 83,821,633 (GRCm39) E287G probably damaging Het
Pex13 C A 11: 23,615,760 (GRCm39) G29C probably damaging Het
Phrf1 C A 7: 140,839,412 (GRCm39) T869K unknown Het
Pitrm1 A G 13: 6,627,517 (GRCm39) T912A probably benign Het
Pla2g4c A G 7: 13,071,692 (GRCm39) K171E probably benign Het
Pnpla7 A T 2: 24,929,709 (GRCm39) T833S probably damaging Het
Por G T 5: 135,744,918 (GRCm39) probably null Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rabgef1 A T 5: 130,240,792 (GRCm39) I304F probably benign Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rnase4 A G 14: 51,342,429 (GRCm39) D51G possibly damaging Het
Rnf13 A C 3: 57,740,997 (GRCm39) D291A probably benign Het
Rps6kb2 A T 19: 4,209,270 (GRCm39) I191N probably damaging Het
Scn1a A G 2: 66,181,358 (GRCm39) L55S probably benign Het
Son T A 16: 91,467,418 (GRCm39) F2260I unknown Het
Spata31h1 C T 10: 82,124,577 (GRCm39) S2811N probably benign Het
Ssr1 A G 13: 38,167,449 (GRCm39) I238T probably benign Het
Stk11ip A G 1: 75,506,818 (GRCm39) E633G possibly damaging Het
Svs3a A G 2: 164,132,062 (GRCm39) Y211C probably benign Het
Sytl1 T A 4: 132,988,175 (GRCm39) E60D possibly damaging Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tlr1 T C 5: 65,083,198 (GRCm39) I460V probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Ttll5 G A 12: 85,964,516 (GRCm39) A553T possibly damaging Het
Ttll5 A T 12: 86,071,107 (GRCm39) T1327S probably benign Het
Upp2 T A 2: 58,680,177 (GRCm39) C334* probably null Het
Wdr74 C A 19: 8,713,358 (GRCm39) N24K possibly damaging Het
Zfp541 T A 7: 15,824,329 (GRCm39) L1078Q probably damaging Het
Zfr2 T C 10: 81,076,029 (GRCm39) V212A probably damaging Het
Other mutations in Zbtb42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Zbtb42 APN 12 112,646,718 (GRCm39) missense probably benign 0.35
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
Z1176:Zbtb42 UTSW 12 112,646,633 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAGAGCGGCTTCTGTTTAC -3'
(R):5'- TACATGAAGTCCAGCAGGC -3'

Sequencing Primer
(F):5'- CAGAGCGGCTTCTGTTTACTTTCG -3'
(R):5'- ACGATGTCGCCGTTGAG -3'
Posted On 2021-12-30