Incidental Mutation 'R5030:Zc3h4'
ID 391621
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 042621-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16134835-16171621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16156155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 262 (D262E)
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: D254E
SMART Domains Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: D254E

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: D262E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209374
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (87/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A C 5: 26,684,783 (GRCm39) noncoding transcript Het
Abca15 A T 7: 119,939,224 (GRCm39) E206V probably damaging Het
Acy1 A G 9: 106,310,596 (GRCm39) F343L probably benign Het
Adam22 T C 5: 8,229,645 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,607,948 (GRCm39) D4041E probably benign Het
Akr1c14 T C 13: 4,129,102 (GRCm39) S166P probably damaging Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Atm A T 9: 53,431,409 (GRCm39) Y316* probably null Het
Atp1a1 T C 3: 101,487,133 (GRCm39) D892G probably benign Het
Auts2 A G 5: 131,472,336 (GRCm39) V581A probably benign Het
Bltp1 A G 3: 36,997,548 (GRCm39) probably benign Het
Boll T A 1: 55,394,894 (GRCm39) N57I probably damaging Het
C1s2 A C 6: 124,612,547 (GRCm39) V36G possibly damaging Het
Capza1 T C 3: 104,748,154 (GRCm39) Y70C probably damaging Het
Carnmt1 T C 19: 18,668,950 (GRCm39) S292P possibly damaging Het
Cemip2 T G 19: 21,819,469 (GRCm39) F1087V probably benign Het
Cyp2g1 T G 7: 26,520,226 (GRCm39) V486G probably benign Het
Dennd6b T A 15: 89,080,454 (GRCm39) T49S possibly damaging Het
Dhx58 A T 11: 100,586,963 (GRCm39) I610N probably damaging Het
Elapor2 T A 5: 9,478,502 (GRCm39) N455K probably damaging Het
Fam170a T A 18: 50,415,021 (GRCm39) N222K probably benign Het
Fbn1 A G 2: 125,254,624 (GRCm39) V213A possibly damaging Het
Frem3 A C 8: 81,339,876 (GRCm39) D723A possibly damaging Het
Fsip2 A T 2: 82,818,836 (GRCm39) K4856N possibly damaging Het
Galnt17 A G 5: 130,905,351 (GRCm39) V571A probably damaging Het
Gm6124 A G 7: 38,872,454 (GRCm39) noncoding transcript Het
Gm8973 A G 15: 98,904,136 (GRCm39) noncoding transcript Het
Gpd2 A G 2: 57,194,417 (GRCm39) T107A probably damaging Het
Hsd17b11 G A 5: 104,151,158 (GRCm39) A192V probably damaging Het
Igkv6-25 C T 6: 70,192,426 (GRCm39) Q4* probably null Het
Kalrn A G 16: 33,796,112 (GRCm39) I1221T probably benign Het
Klhl9 G T 4: 88,638,771 (GRCm39) T490K possibly damaging Het
Lnpep A G 17: 17,799,571 (GRCm39) V28A probably damaging Het
Lrrc37 G A 11: 103,425,675 (GRCm39) P1419S unknown Het
Man2c1 A G 9: 57,047,923 (GRCm39) H843R probably benign Het
Map1b T C 13: 99,570,682 (GRCm39) K680E unknown Het
Metap2 A T 10: 93,715,539 (GRCm39) probably null Het
Mfsd2a A T 4: 122,843,949 (GRCm39) I340N possibly damaging Het
Mgll T C 6: 88,795,647 (GRCm39) probably null Het
Myh9 A G 15: 77,691,998 (GRCm39) probably benign Het
Ncapd3 A T 9: 26,983,062 (GRCm39) I937F probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Nova1 A G 12: 46,747,030 (GRCm39) S416P probably damaging Het
Oosp3 T C 19: 11,678,308 (GRCm39) W95R probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t26 A T 11: 49,039,188 (GRCm39) M35L probably benign Het
Or5p76 T A 7: 108,122,384 (GRCm39) I258F possibly damaging Het
Or7e175 A T 9: 20,049,363 (GRCm39) K317M probably benign Het
Pcdha7 T A 18: 37,108,501 (GRCm39) S509T probably damaging Het
Pdgfrb T C 18: 61,198,207 (GRCm39) V296A probably benign Het
Pdzd2 A T 15: 12,592,494 (GRCm39) L50* probably null Het
Plcl2 G T 17: 50,914,347 (GRCm39) R452L possibly damaging Het
Poldip3 A T 15: 83,022,392 (GRCm39) F131I possibly damaging Het
Pwwp3a T C 10: 80,076,209 (GRCm39) probably benign Het
Rffl G A 11: 82,703,543 (GRCm39) R127* probably null Het
Sec24d T A 3: 123,152,550 (GRCm39) V854E probably damaging Het
Sgo2a T A 1: 58,056,918 (GRCm39) L1034* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm39) N95K possibly damaging Het
Spag17 C T 3: 99,992,657 (GRCm39) Q1718* probably null Het
Spdl1 C T 11: 34,714,267 (GRCm39) A141T probably benign Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Supv3l1 G T 10: 62,266,394 (GRCm39) A594D probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tmem131 T C 1: 36,866,255 (GRCm39) N483S possibly damaging Het
Tonsl A T 15: 76,522,301 (GRCm39) C231S probably damaging Het
Trav9n-4 T C 14: 53,532,305 (GRCm39) F53S possibly damaging Het
Trgv7 G T 13: 19,362,558 (GRCm39) L82F probably damaging Het
Trim45 T G 3: 100,835,388 (GRCm39) V457G probably damaging Het
Trpm1 T A 7: 63,885,579 (GRCm39) I865N probably damaging Het
Trpm3 C A 19: 22,676,130 (GRCm39) L99I probably benign Het
Twist1 T A 12: 34,008,440 (GRCm39) L155Q probably damaging Het
Vac14 A G 8: 111,437,018 (GRCm39) E577G possibly damaging Het
Vmn1r184 T C 7: 25,966,881 (GRCm39) V209A probably benign Het
Xdh C T 17: 74,198,288 (GRCm39) G1200R probably damaging Het
Zbbx C T 3: 74,990,990 (GRCm39) D290N possibly damaging Het
Zbtb40 T C 4: 136,725,263 (GRCm39) T585A probably benign Het
Zfp777 G T 6: 48,014,601 (GRCm39) D368E 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
R5160:Zc3h4 UTSW 7 16,168,573 (GRCm39) missense unknown
R5270:Zc3h4 UTSW 7 16,168,440 (GRCm39) missense unknown
R5490:Zc3h4 UTSW 7 16,162,930 (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'- AGGCACTGTGATTGGCTCTG -3'
(R):5'- TGTCATCATCGTAGAAGTCCTCG -3'

Sequencing Primer
(F):5'- CTCTGCCTGATGGAGTTAGAGTC -3'
(R):5'- ATCATCGTAGAAGTCCTCGTCATC -3'
Posted On 2016-06-06