Incidental Mutation 'R6245:Zbtb42'
ID 505543
Institutional Source Beutler Lab
Gene Symbol Zbtb42
Ensembl Gene ENSMUSG00000037638
Gene Name zinc finger and BTB domain containing 42
Synonyms simiRP58, Gm5188
MMRRC Submission 044403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6245 (G1)
Quality Score 198.009
Status Not validated
Chromosome 12
Chromosomal Location 112645262-112649181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112645969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 48 (Y48C)
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 damaging
Transcript: ENSMUST00000169593
AA Change: Y48C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: Y48C

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,026,249 (GRCm39) I937T probably damaging Het
Adgrl3 T A 5: 81,836,403 (GRCm39) N720K probably benign Het
Akr1c21 T G 13: 4,625,231 (GRCm39) V54G possibly damaging Het
Alpi G T 1: 87,028,556 (GRCm39) D111E probably damaging Het
Armc3 C T 2: 19,253,516 (GRCm39) T219M probably damaging Het
Bms1 T A 6: 118,373,797 (GRCm39) E780V probably damaging Het
Ccdc159 T C 9: 21,846,864 (GRCm39) S244P probably damaging Het
Cdon T C 9: 35,388,235 (GRCm39) W737R probably damaging Het
Chdh T A 14: 29,757,262 (GRCm39) V395D probably damaging Het
Col22a1 C A 15: 71,845,665 (GRCm39) D366Y probably damaging Het
Cplane1 T C 15: 8,207,902 (GRCm39) Y218H probably benign Het
Crnkl1 T A 2: 145,770,051 (GRCm39) N264I probably benign Het
Ctnnd2 T C 15: 30,905,894 (GRCm39) L847P probably damaging Het
Cyp4a31 A C 4: 115,428,545 (GRCm39) T382P possibly damaging Het
Dcaf8 A T 1: 171,993,434 (GRCm39) M1L probably benign Het
Ddx31 T A 2: 28,734,994 (GRCm39) F52I probably benign Het
Dynlt5 A G 4: 102,845,864 (GRCm39) N32S probably benign Het
Efcab3 A T 11: 104,675,834 (GRCm39) Y1542F probably benign Het
Eps15 G A 4: 109,240,063 (GRCm39) S852N possibly damaging Het
Fchsd1 A T 18: 38,095,828 (GRCm39) L552Q probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frem2 T C 3: 53,563,245 (GRCm39) M421V probably benign Het
Gm1110 T G 9: 26,832,043 (GRCm39) H36P probably benign Het
Hadha C T 5: 30,325,042 (GRCm39) probably null Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Intu C A 3: 40,629,756 (GRCm39) T362K probably damaging Het
Jaml C T 9: 45,009,217 (GRCm39) T248I probably damaging Het
Kcnj1 A T 9: 32,308,163 (GRCm39) S176C probably damaging Het
Kcnj9 A G 1: 172,153,704 (GRCm39) L140P probably damaging Het
Kif7 T C 7: 79,351,891 (GRCm39) K957R probably damaging Het
Klc4 T A 17: 46,947,605 (GRCm39) I366F probably damaging Het
Lamb2 A G 9: 108,365,398 (GRCm39) probably null Het
Madd T C 2: 91,008,449 (GRCm39) D151G probably benign Het
Man2a1 C A 17: 65,017,821 (GRCm39) A689E probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Msmp T C 4: 43,583,909 (GRCm39) Y48C probably damaging Het
Muc6 T C 7: 141,235,086 (GRCm39) N567S probably damaging Het
Nrap A G 19: 56,342,653 (GRCm39) Y748H probably damaging Het
Nrap C T 19: 56,368,307 (GRCm39) A192T possibly damaging Het
Or2p2 T A 13: 21,256,860 (GRCm39) T204S possibly damaging Het
Or2y14 T A 11: 49,404,992 (GRCm39) F176I possibly damaging Het
Or5w15 G C 2: 87,568,240 (GRCm39) Q143E possibly damaging Het
Pcdhb8 T G 18: 37,490,222 (GRCm39) D633E possibly damaging Het
Pcdhb9 G A 18: 37,536,207 (GRCm39) V734M probably damaging Het
Plscr1 T C 9: 92,141,374 (GRCm39) Y21H unknown Het
Ptk2b G T 14: 66,400,515 (GRCm39) P767T probably damaging Het
Ptprz1 T C 6: 23,051,989 (GRCm39) Y1424H probably damaging Het
Sec31a T A 5: 100,534,043 (GRCm39) Q118L probably benign Het
Selenop A G 15: 3,304,216 (GRCm39) S21G probably damaging Het
Shank1 G A 7: 44,001,677 (GRCm39) S1132N unknown Het
Slf1 A G 13: 77,232,502 (GRCm39) L534P probably damaging Het
Sparcl1 T A 5: 104,233,013 (GRCm39) H596L probably damaging Het
Spocd1 C T 4: 129,850,901 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,967 (GRCm39) I59N probably damaging Het
Tjp3 G A 10: 81,113,110 (GRCm39) T580I probably benign Het
Tmem154 C T 3: 84,591,603 (GRCm39) T51M possibly damaging Het
Tmem8b G A 4: 43,690,246 (GRCm39) V894I probably benign Het
Trbv20 A T 6: 41,165,840 (GRCm39) L88F possibly damaging Het
Tssk2 A C 16: 17,716,812 (GRCm39) I72L possibly damaging Het
Tub T A 7: 108,626,265 (GRCm39) I267N probably damaging Het
Vmn2r104 A T 17: 20,261,829 (GRCm39) F434I possibly damaging Het
Vmn2r42 T C 7: 8,195,733 (GRCm39) N471S probably damaging Het
Vmn2r94 C G 17: 18,478,385 (GRCm39) G121R probably damaging Het
Wdr72 T C 9: 74,055,505 (GRCm39) S245P probably damaging Het
Zdbf2 T C 1: 63,343,592 (GRCm39) V657A possibly damaging Het
Zfp768 A T 7: 126,943,263 (GRCm39) C288* probably null Het
Zfp988 T A 4: 147,416,470 (GRCm39) C301* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TTGTGCCCAGGTGATGACTG -3'
(R):5'- CAGATCTGGGTCCTTCTTTCTGAG -3'

Sequencing Primer
(F):5'- AGGTGATGACTGCGGCG -3'
(R):5'- GCAGACCTTGACGATGTCATACATG -3'
Posted On 2018-02-28