Incidental Mutation 'R7371:Zc3h18'
ID572092
Institutional Source Beutler Lab
Gene Symbol Zc3h18
Ensembl Gene ENSMUSG00000017478
Gene Namezinc finger CCCH-type containing 18
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #R7371 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location122376609-122417360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122413021 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 734 (S734T)
Ref Sequence ENSEMBL: ENSMUSP00000017622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017622] [ENSMUST00000093073] [ENSMUST00000127664] [ENSMUST00000176629]
Predicted Effect unknown
Transcript: ENSMUST00000017622
AA Change: S734T
SMART Domains Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: S734T

DomainStartEndE-ValueType
coiled coil region 105 129 N/A INTRINSIC
low complexity region 180 205 N/A INTRINSIC
Blast:ZnF_C3H1 215 264 3e-9 BLAST
low complexity region 279 293 N/A INTRINSIC
low complexity region 309 316 N/A INTRINSIC
coiled coil region 418 484 N/A INTRINSIC
low complexity region 552 640 N/A INTRINSIC
low complexity region 642 655 N/A INTRINSIC
low complexity region 658 677 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
low complexity region 705 748 N/A INTRINSIC
low complexity region 756 770 N/A INTRINSIC
low complexity region 794 828 N/A INTRINSIC
low complexity region 871 887 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
coiled coil region 940 968 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000093073
AA Change: S710T
SMART Domains Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: S710T

DomainStartEndE-ValueType
coiled coil region 105 129 N/A INTRINSIC
low complexity region 180 205 N/A INTRINSIC
ZnF_C3H1 215 240 2.57e-3 SMART
low complexity region 255 269 N/A INTRINSIC
low complexity region 285 292 N/A INTRINSIC
coiled coil region 394 460 N/A INTRINSIC
low complexity region 528 616 N/A INTRINSIC
low complexity region 618 631 N/A INTRINSIC
low complexity region 634 653 N/A INTRINSIC
low complexity region 665 679 N/A INTRINSIC
low complexity region 681 724 N/A INTRINSIC
low complexity region 732 746 N/A INTRINSIC
low complexity region 770 804 N/A INTRINSIC
low complexity region 847 863 N/A INTRINSIC
low complexity region 874 886 N/A INTRINSIC
coiled coil region 916 944 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000176629
AA Change: S712T
SMART Domains Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: S712T

DomainStartEndE-ValueType
coiled coil region 105 129 N/A INTRINSIC
low complexity region 180 205 N/A INTRINSIC
Blast:ZnF_C3H1 215 264 6e-9 BLAST
low complexity region 279 293 N/A INTRINSIC
low complexity region 309 316 N/A INTRINSIC
coiled coil region 418 484 N/A INTRINSIC
low complexity region 552 640 N/A INTRINSIC
low complexity region 642 655 N/A INTRINSIC
low complexity region 658 677 N/A INTRINSIC
low complexity region 702 726 N/A INTRINSIC
low complexity region 734 748 N/A INTRINSIC
low complexity region 772 806 N/A INTRINSIC
low complexity region 849 865 N/A INTRINSIC
low complexity region 876 888 N/A INTRINSIC
coiled coil region 918 946 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478
AA Change: S67T

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
low complexity region 39 82 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 128 162 N/A INTRINSIC
low complexity region 205 221 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (88/90)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,193,481 S475T unknown Het
Adam21 A C 12: 81,560,290 S233A probably damaging Het
Adcy8 T A 15: 64,699,218 H1222L probably benign Het
Aftph T C 11: 20,726,836 T258A probably benign Het
Ano3 A C 2: 110,884,849 probably null Het
Aox4 A G 1: 58,263,854 D1148G probably damaging Het
Bcl11b A T 12: 107,989,491 I133N probably damaging Het
Borcs7 T A 19: 46,699,618 D67E probably damaging Het
Cacna2d4 T A 6: 119,308,709 I774N probably benign Het
Catsperd A T 17: 56,650,801 Y236F probably benign Het
Cblc T C 7: 19,792,903 S135G probably benign Het
Ccdc178 A G 18: 22,130,138 V138A probably benign Het
Cd300ld C T 11: 114,987,360 G109R probably damaging Het
Cdh3 T A 8: 106,552,477 N690K probably damaging Het
Ceacam1 T A 7: 25,474,720 Y170F possibly damaging Het
Ceacam9 A C 7: 16,723,727 H55P possibly damaging Het
Celsr1 C T 15: 86,030,674 V1033I possibly damaging Het
Cep97 T C 16: 55,905,320 S807G probably benign Het
Ces1b A G 8: 93,057,354 probably null Het
Chn1 T C 2: 73,679,890 T92A probably damaging Het
Cngb3 A C 4: 19,425,575 Y461S possibly damaging Het
Col24a1 A G 3: 145,343,698 N629S probably benign Het
Cpd T C 11: 76,846,611 D119G probably benign Het
Cpsf1 T C 15: 76,600,575 D594G probably damaging Het
Cpsf7 C T 19: 10,531,839 A38V probably benign Het
Cry1 A T 10: 85,147,919 H224Q probably benign Het
Ctr9 T A 7: 111,033,807 D87E probably damaging Het
Cyp2u1 T A 3: 131,293,495 N479I probably benign Het
D10Wsu102e T C 10: 83,365,816 V151A probably benign Het
Dip2c A G 13: 9,592,749 N672D probably benign Het
Dnah14 T C 1: 181,626,885 V820A probably benign Het
Efnb2 T C 8: 8,660,524 I31V probably benign Het
Fgb T C 3: 83,046,052 Y137C probably damaging Het
Fkbp15 A G 4: 62,321,056 V604A possibly damaging Het
Flii A T 11: 60,718,264 N682K probably benign Het
Fmo3 A G 1: 162,954,227 L519P possibly damaging Het
Gapvd1 T A 2: 34,717,373 M538L probably benign Het
Gbp11 A G 5: 105,342,105 V69A probably benign Het
Ggn T A 7: 29,172,180 D364E probably benign Het
Gm10377 G A 14: 42,792,896 P171S probably benign Het
Gm8251 C A 1: 44,061,377 R187L probably benign Het
Gramd4 C T 15: 86,135,406 A625V probably benign Het
Il2ra T A 2: 11,643,020 M7K probably benign Het
Iqgap2 A T 13: 95,700,338 probably null Het
Itgb4 T C 11: 115,998,080 V1083A probably benign Het
Kcnma1 G A 14: 23,494,570 A573V possibly damaging Het
Kirrel T C 3: 87,088,422 T402A probably benign Het
Krt15 A T 11: 100,135,560 V100E possibly damaging Het
Krt4 T A 15: 101,920,388 Q347L probably damaging Het
Map3k21 T A 8: 125,935,065 I467N probably damaging Het
Mastl A T 2: 23,140,573 S195T probably damaging Het
Mis18bp1 G T 12: 65,158,594 T268K probably benign Het
Mmp17 G A 5: 129,605,772 G492S probably null Het
Myc T A 15: 61,988,182 S236T probably damaging Het
Nlrp5 A T 7: 23,418,423 E524V probably damaging Het
Npr3 T A 15: 11,845,290 probably null Het
Odf3b C A 15: 89,379,162 W6L probably damaging Het
Olfr446 T A 6: 42,927,535 Y101* probably null Het
Olfr683 A G 7: 105,143,879 I138T possibly damaging Het
Olfr724 A T 14: 49,961,106 probably null Het
Oog4 T C 4: 143,438,776 N267S possibly damaging Het
Pde4dip T C 3: 97,757,271 E425G probably benign Het
Piwil4 A C 9: 14,727,433 N312K probably benign Het
Pmepa1 A G 2: 173,234,419 M47T possibly damaging Het
Prkcg G A 7: 3,319,553 G372D probably benign Het
Prune2 A G 19: 17,119,370 H746R probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,529,539 probably benign Het
Rab3gap2 C G 1: 185,251,068 A468G probably damaging Het
Ralb A G 1: 119,472,399 L123P Het
Ralgapa2 G A 2: 146,347,126 T1288I probably benign Het
Samd4b C A 7: 28,423,501 C44F probably benign Het
Satb1 C A 17: 51,782,980 E280* probably null Het
Sec1 T C 7: 45,678,610 T338A probably damaging Het
Sec16a T C 2: 26,441,722 T94A probably benign Het
Serpina1f G A 12: 103,689,827 R381W probably damaging Het
Sfswap A T 5: 129,543,241 T525S probably benign Het
Skor1 T C 9: 63,146,887 probably null Het
Spc24 A G 9: 21,757,368 L111P probably damaging Het
St8sia2 T C 7: 73,966,927 D121G probably damaging Het
Tanc2 A G 11: 105,798,596 T195A probably benign Het
Tbc1d9 T A 8: 83,271,261 I1149N probably damaging Het
Tph2 A T 10: 115,151,111 L258Q probably damaging Het
Trpm3 A T 19: 22,902,193 M781L probably benign Het
Ubap2 G T 4: 41,195,779 P1005T probably benign Het
Upf2 A G 2: 5,961,040 E157G unknown Het
Urb2 C A 8: 124,028,269 D238E probably benign Het
Vipr1 T C 9: 121,668,555 S380P probably damaging Het
Zmym6 T A 4: 127,104,313 Y381N probably damaging Het
Zscan4e T C 7: 11,307,324 K207R probably benign Het
Other mutations in Zc3h18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Zc3h18 APN 8 122386852 unclassified probably benign
IGL01160:Zc3h18 APN 8 122408250 unclassified probably benign
IGL01472:Zc3h18 APN 8 122416657 unclassified probably benign
R1525:Zc3h18 UTSW 8 122413938 missense probably benign 0.34
R1996:Zc3h18 UTSW 8 122407387 unclassified probably benign
R2351:Zc3h18 UTSW 8 122403187 nonsense probably null
R2398:Zc3h18 UTSW 8 122413866 intron probably benign
R2516:Zc3h18 UTSW 8 122403165 intron probably benign
R4435:Zc3h18 UTSW 8 122413952 critical splice donor site probably null
R4734:Zc3h18 UTSW 8 122383643 missense probably damaging 1.00
R4749:Zc3h18 UTSW 8 122383643 missense probably damaging 1.00
R4885:Zc3h18 UTSW 8 122401706 intron probably benign
R4952:Zc3h18 UTSW 8 122410900 unclassified probably benign
R5001:Zc3h18 UTSW 8 122383520 missense probably damaging 1.00
R5098:Zc3h18 UTSW 8 122386869 missense probably damaging 1.00
R5172:Zc3h18 UTSW 8 122407420 unclassified probably benign
R5213:Zc3h18 UTSW 8 122383649 missense probably damaging 1.00
R5337:Zc3h18 UTSW 8 122386902 missense probably damaging 1.00
R5558:Zc3h18 UTSW 8 122386920 missense probably damaging 1.00
R5611:Zc3h18 UTSW 8 122408370 critical splice donor site probably null
R6080:Zc3h18 UTSW 8 122416544 unclassified probably benign
R6315:Zc3h18 UTSW 8 122383865 missense probably benign 0.28
R6349:Zc3h18 UTSW 8 122408286 unclassified probably benign
R7513:Zc3h18 UTSW 8 122408254 missense unknown
R7674:Zc3h18 UTSW 8 122383556 frame shift probably null
R7684:Zc3h18 UTSW 8 122407426 missense unknown
R7685:Zc3h18 UTSW 8 122413876 missense unknown
R7686:Zc3h18 UTSW 8 122413876 missense unknown
R7849:Zc3h18 UTSW 8 122383971 missense probably damaging 1.00
V1024:Zc3h18 UTSW 8 122383857 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGGTCATCCAGGTTAGTGAAG -3'
(R):5'- GTCTCTGTCGAAAGCTAACCC -3'

Sequencing Primer
(F):5'- AGTAGAGACTCAGAGCTGTCCTTTC -3'
(R):5'- TCTGTCGAAAGCTAACCCCCAAG -3'
Posted On2019-09-13