Incidental Mutation 'R7674:Zc3h18'
ID 592381
Institutional Source Beutler Lab
Gene Symbol Zc3h18
Ensembl Gene ENSMUSG00000017478
Gene Name zinc finger CCCH-type containing 18
Synonyms 5830416A07Rik, 1190001B23Rik
MMRRC Submission 045744-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R7674 (G1)
Quality Score 217.468
Status Validated
Chromosome 8
Chromosomal Location 123103348-123144099 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGG to AG at 123110295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017622] [ENSMUST00000093073] [ENSMUST00000127664] [ENSMUST00000176629] [ENSMUST00000176699]
AlphaFold Q0P678
Predicted Effect probably null
Transcript: ENSMUST00000017622
SMART Domains Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478

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 probably null
Transcript: ENSMUST00000093073
SMART Domains Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478

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 probably null
Transcript: ENSMUST00000176629
SMART Domains Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478

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 probably null
Transcript: ENSMUST00000176699
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,123 (GRCm39) I607F probably damaging Het
Abcc4 A T 14: 118,848,899 (GRCm39) D559E probably damaging Het
Abl1 T C 2: 31,579,841 (GRCm39) V8A possibly damaging Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Asb3 T A 11: 31,031,435 (GRCm39) C352S possibly damaging Het
B4galnt3 G T 6: 120,192,166 (GRCm39) D523E probably benign Het
Cadps C A 14: 12,411,581 (GRCm38) E1258D probably damaging Het
Carmil2 A T 8: 106,423,918 (GRCm39) Q1257L possibly damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Ccdc88c G T 12: 100,911,491 (GRCm39) A781E probably benign Het
Ccr10 A T 11: 101,065,475 (GRCm39) D18E probably benign Het
Cdcp1 C A 9: 123,045,071 (GRCm39) probably benign Het
Ces5a C A 8: 94,240,897 (GRCm39) R400L probably damaging Het
Clcn6 C T 4: 148,097,151 (GRCm39) V636M probably damaging Het
Cluh T A 11: 74,558,546 (GRCm39) L1206H probably damaging Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dok4 T C 8: 95,593,190 (GRCm39) Y165C probably damaging Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Egr3 G A 14: 70,315,526 (GRCm39) probably null Het
Elapor1 T G 3: 108,370,307 (GRCm39) R698S probably damaging Het
Elp1 T C 4: 56,792,075 (GRCm39) Q231R probably damaging Het
Evpl T C 11: 116,113,394 (GRCm39) K1432R probably benign Het
Fbxw8 A T 5: 118,263,036 (GRCm39) C214* probably null Het
Gm45861 A C 8: 28,030,147 (GRCm39) Y821S unknown Het
Gm5519 G C 19: 33,802,428 (GRCm39) G157A probably benign Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Jmy C T 13: 93,579,107 (GRCm39) R675Q probably damaging Het
Kif14 C T 1: 136,396,558 (GRCm39) T288I probably damaging Het
Kpna3 A T 14: 61,605,086 (GRCm39) N520K probably benign Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Lrp1b T A 2: 42,542,921 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,438,751 (GRCm39) M70L probably benign Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nipbl C T 15: 8,322,585 (GRCm39) V2609I probably benign Het
Nucks1 C A 1: 131,858,844 (GRCm39) T202N probably benign Het
Or10al3 A G 17: 38,011,573 (GRCm39) N4S probably benign Het
Or4c127 A T 2: 89,833,389 (GRCm39) Y213F probably damaging Het
Or4e2 A G 14: 52,687,899 (GRCm39) T10A probably benign Het
Or5m12 A C 2: 85,734,880 (GRCm39) F173V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Plekha2 A G 8: 25,547,314 (GRCm39) S257P probably damaging Het
Pnlip G C 19: 58,663,586 (GRCm39) G187A possibly damaging Het
Pramel22 T A 4: 143,382,175 (GRCm39) K174* probably null Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rho G T 6: 115,909,294 (GRCm39) C110F probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Srp72 A T 5: 77,122,673 (GRCm39) N35Y probably damaging Het
Tm2d2 C A 8: 25,508,280 (GRCm39) Y141* probably null Het
Tor3a G A 1: 156,483,478 (GRCm39) H315Y possibly damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r26 T C 6: 124,016,321 (GRCm39) W262R probably benign Het
Yipf7 A T 5: 69,676,572 (GRCm39) V189D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L probably damaging Het
Other mutations in Zc3h18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Zc3h18 APN 8 123,113,591 (GRCm39) unclassified probably benign
IGL01160:Zc3h18 APN 8 123,134,989 (GRCm39) unclassified probably benign
IGL01472:Zc3h18 APN 8 123,143,396 (GRCm39) unclassified probably benign
R1525:Zc3h18 UTSW 8 123,140,677 (GRCm39) missense probably benign 0.34
R1996:Zc3h18 UTSW 8 123,134,126 (GRCm39) unclassified probably benign
R2351:Zc3h18 UTSW 8 123,129,926 (GRCm39) nonsense probably null
R2398:Zc3h18 UTSW 8 123,140,605 (GRCm39) intron probably benign
R2516:Zc3h18 UTSW 8 123,129,904 (GRCm39) intron probably benign
R4435:Zc3h18 UTSW 8 123,140,691 (GRCm39) critical splice donor site probably null
R4734:Zc3h18 UTSW 8 123,110,382 (GRCm39) missense probably damaging 1.00
R4749:Zc3h18 UTSW 8 123,110,382 (GRCm39) missense probably damaging 1.00
R4885:Zc3h18 UTSW 8 123,128,445 (GRCm39) intron probably benign
R4952:Zc3h18 UTSW 8 123,137,639 (GRCm39) unclassified probably benign
R5001:Zc3h18 UTSW 8 123,110,259 (GRCm39) missense probably damaging 1.00
R5098:Zc3h18 UTSW 8 123,113,608 (GRCm39) missense probably damaging 1.00
R5172:Zc3h18 UTSW 8 123,134,159 (GRCm39) unclassified probably benign
R5213:Zc3h18 UTSW 8 123,110,388 (GRCm39) missense probably damaging 1.00
R5337:Zc3h18 UTSW 8 123,113,641 (GRCm39) missense probably damaging 1.00
R5558:Zc3h18 UTSW 8 123,113,659 (GRCm39) missense probably damaging 1.00
R5611:Zc3h18 UTSW 8 123,135,109 (GRCm39) critical splice donor site probably null
R6080:Zc3h18 UTSW 8 123,143,283 (GRCm39) unclassified probably benign
R6315:Zc3h18 UTSW 8 123,110,604 (GRCm39) missense probably benign 0.28
R6349:Zc3h18 UTSW 8 123,135,025 (GRCm39) unclassified probably benign
R7371:Zc3h18 UTSW 8 123,139,760 (GRCm39) missense unknown
R7513:Zc3h18 UTSW 8 123,134,993 (GRCm39) missense unknown
R7684:Zc3h18 UTSW 8 123,134,165 (GRCm39) missense unknown
R7685:Zc3h18 UTSW 8 123,140,615 (GRCm39) missense unknown
R7686:Zc3h18 UTSW 8 123,140,615 (GRCm39) missense unknown
R7849:Zc3h18 UTSW 8 123,110,710 (GRCm39) missense probably damaging 1.00
R8759:Zc3h18 UTSW 8 123,138,124 (GRCm39) missense unknown
R8797:Zc3h18 UTSW 8 123,134,989 (GRCm39) unclassified probably benign
R8986:Zc3h18 UTSW 8 123,134,193 (GRCm39) missense unknown
R9016:Zc3h18 UTSW 8 123,129,963 (GRCm39) missense unknown
V1024:Zc3h18 UTSW 8 123,110,596 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCCAGGCTGAGACTATGGTTTG -3'
(R):5'- CAGGGACCTCCTCATCATAGTC -3'

Sequencing Primer
(F):5'- ACTATGGTTTGTGTCTTTTGCAGATC -3'
(R):5'- ATAGTCTAGTTCATGCTCATCCAG -3'
Posted On 2019-11-12