Incidental Mutation 'R5490:Zc3h4'
ID 432039
Institutional Source Beutler Lab
Gene Symbol Zc3h4
Ensembl Gene ENSMUSG00000059273
Gene Name zinc finger CCCH-type containing 4
Synonyms Kiaa1064-hp, Bwq1, LOC330474
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 16134835-16171621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16162930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 443 (D443E)
Ref Sequence ENSEMBL: ENSMUSP00000147665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098789] [ENSMUST00000209289]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000098789
AA Change: D435E
SMART Domains Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: D435E

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 35 97 N/A INTRINSIC
low complexity region 144 170 N/A INTRINSIC
low complexity region 184 247 N/A INTRINSIC
low complexity region 264 324 N/A INTRINSIC
ZnF_C3H1 341 366 1.95e-3 SMART
ZnF_C3H1 370 395 6.17e-6 SMART
ZnF_C3H1 396 419 3.38e-1 SMART
low complexity region 433 451 N/A INTRINSIC
low complexity region 456 486 N/A INTRINSIC
low complexity region 489 505 N/A INTRINSIC
low complexity region 552 641 N/A INTRINSIC
low complexity region 705 720 N/A INTRINSIC
coiled coil region 729 760 N/A INTRINSIC
internal_repeat_2 767 822 3.38e-5 PROSPERO
low complexity region 837 850 N/A INTRINSIC
low complexity region 863 880 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
internal_repeat_2 986 1037 3.38e-5 PROSPERO
low complexity region 1049 1072 N/A INTRINSIC
low complexity region 1077 1097 N/A INTRINSIC
low complexity region 1175 1195 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209289
AA Change: D443E
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Zc3h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Zc3h4 APN 7 16,156,159 (GRCm39) missense unknown
IGL00923:Zc3h4 APN 7 16,163,617 (GRCm39) missense unknown
IGL01541:Zc3h4 APN 7 16,168,257 (GRCm39) missense unknown
IGL02115:Zc3h4 APN 7 16,159,708 (GRCm39) missense unknown
IGL02303:Zc3h4 APN 7 16,168,002 (GRCm39) missense unknown
IGL02336:Zc3h4 APN 7 16,159,702 (GRCm39) missense unknown
IGL02734:Zc3h4 APN 7 16,157,849 (GRCm39) missense unknown
IGL02736:Zc3h4 APN 7 16,151,308 (GRCm39) nonsense probably null
BB008:Zc3h4 UTSW 7 16,166,909 (GRCm39) missense unknown
BB018:Zc3h4 UTSW 7 16,166,909 (GRCm39) missense unknown
R0032:Zc3h4 UTSW 7 16,168,565 (GRCm39) missense unknown
R0032:Zc3h4 UTSW 7 16,168,565 (GRCm39) missense unknown
R0220:Zc3h4 UTSW 7 16,163,198 (GRCm39) missense unknown
R0336:Zc3h4 UTSW 7 16,169,103 (GRCm39) missense unknown
R0416:Zc3h4 UTSW 7 16,154,200 (GRCm39) missense probably damaging 1.00
R0666:Zc3h4 UTSW 7 16,168,697 (GRCm39) missense unknown
R0864:Zc3h4 UTSW 7 16,154,104 (GRCm39) missense probably damaging 0.99
R1068:Zc3h4 UTSW 7 16,163,161 (GRCm39) missense unknown
R1145:Zc3h4 UTSW 7 16,150,838 (GRCm39) missense possibly damaging 0.53
R1145:Zc3h4 UTSW 7 16,150,838 (GRCm39) missense possibly damaging 0.53
R1472:Zc3h4 UTSW 7 16,168,695 (GRCm39) missense unknown
R1665:Zc3h4 UTSW 7 16,163,505 (GRCm39) missense unknown
R2087:Zc3h4 UTSW 7 16,150,865 (GRCm39) missense possibly damaging 0.72
R2182:Zc3h4 UTSW 7 16,156,441 (GRCm39) missense unknown
R2508:Zc3h4 UTSW 7 16,168,264 (GRCm39) missense unknown
R3037:Zc3h4 UTSW 7 16,155,410 (GRCm39) missense unknown
R4439:Zc3h4 UTSW 7 16,163,036 (GRCm39) missense unknown
R4576:Zc3h4 UTSW 7 16,168,579 (GRCm39) missense unknown
R5030:Zc3h4 UTSW 7 16,156,155 (GRCm39) missense unknown
R5160:Zc3h4 UTSW 7 16,168,573 (GRCm39) missense unknown
R5270:Zc3h4 UTSW 7 16,168,440 (GRCm39) missense unknown
R5519:Zc3h4 UTSW 7 16,169,157 (GRCm39) missense unknown
R5770:Zc3h4 UTSW 7 16,163,536 (GRCm39) missense unknown
R7067:Zc3h4 UTSW 7 16,162,976 (GRCm39) nonsense probably null
R7234:Zc3h4 UTSW 7 16,162,961 (GRCm39) missense unknown
R7316:Zc3h4 UTSW 7 16,169,260 (GRCm39) missense unknown
R7771:Zc3h4 UTSW 7 16,163,824 (GRCm39) missense unknown
R7852:Zc3h4 UTSW 7 16,156,392 (GRCm39) missense unknown
R7922:Zc3h4 UTSW 7 16,159,647 (GRCm39) missense unknown
R7931:Zc3h4 UTSW 7 16,166,909 (GRCm39) missense unknown
R7965:Zc3h4 UTSW 7 16,163,770 (GRCm39) missense unknown
R8827:Zc3h4 UTSW 7 16,163,123 (GRCm39) missense unknown
R8859:Zc3h4 UTSW 7 16,168,939 (GRCm39) missense unknown
R9457:Zc3h4 UTSW 7 16,168,675 (GRCm39) missense unknown
R9562:Zc3h4 UTSW 7 16,168,891 (GRCm39) missense unknown
R9609:Zc3h4 UTSW 7 16,150,751 (GRCm39) missense unknown
R9721:Zc3h4 UTSW 7 16,168,770 (GRCm39) missense unknown
RF001:Zc3h4 UTSW 7 16,163,612 (GRCm39) small insertion probably benign
RF039:Zc3h4 UTSW 7 16,163,543 (GRCm39) small deletion probably benign
X0064:Zc3h4 UTSW 7 16,156,441 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCTGCCTTTAAACTTGATCTTC -3'
(R):5'- CATGTGTTGGCAGGGACATC -3'

Sequencing Primer
(F):5'- GCCTCTTCATCCCTAATGCTAAG -3'
(R):5'- TTGGCAGGGACATCTGAGG -3'
Posted On 2016-10-05