Incidental Mutation 'R4952:Zc3h18'
ID 382064
Institutional Source Beutler Lab
Gene Symbol Zc3h18
Ensembl Gene ENSMUSG00000017478
Gene Name zinc finger CCCH-type containing 18
Synonyms 5830416A07Rik, 1190001B23Rik
MMRRC Submission 042549-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R4952 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123103348-123144099 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 123137639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000017622] [ENSMUST00000093073] [ENSMUST00000127664] [ENSMUST00000176629]
AlphaFold Q0P678
Predicted Effect unknown
Transcript: ENSMUST00000017622
AA Change: S625T
SMART Domains Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: S625T

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: S601T
SMART Domains Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: S601T

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 noncoding transcript
Transcript: ENSMUST00000175798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175819
SMART Domains Protein: ENSMUSP00000135055
Gene: ENSMUSG00000017478

DomainStartEndE-ValueType
low complexity region 3 34 N/A INTRINSIC
low complexity region 67 133 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176629
AA Change: S625T
SMART Domains Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: S625T

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 noncoding transcript
Transcript: ENSMUST00000177123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177195
Predicted Effect probably benign
Transcript: ENSMUST00000177049
SMART Domains Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478

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
Meta Mutation Damage Score 0.1854 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,887,063 (GRCm39) probably null Het
4933421I07Rik T C 7: 42,097,083 (GRCm39) Y76C possibly damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Ak9 A G 10: 41,296,585 (GRCm39) M1444V probably benign Het
Amfr A G 8: 94,699,787 (GRCm39) probably benign Het
Ankef1 A G 2: 136,392,449 (GRCm39) E546G probably damaging Het
Ankrd24 A G 10: 81,482,982 (GRCm39) M977V probably benign Het
Ap3m1 A T 14: 21,090,134 (GRCm39) S5T probably benign Het
Aqr C A 2: 113,940,418 (GRCm39) D1243Y probably damaging Het
Arhgef2 T C 3: 88,549,769 (GRCm39) L591P probably damaging Het
Arid4a C A 12: 71,070,299 (GRCm39) T70K possibly damaging Het
Asphd1 C T 7: 126,547,857 (GRCm39) A149T probably benign Het
Avpr1a T A 10: 122,285,659 (GRCm39) M317K probably damaging Het
Birc2 T C 9: 7,836,741 (GRCm39) I109V probably damaging Het
Catsperd A G 17: 56,939,303 (GRCm39) Y44C probably damaging Het
Crygb T G 1: 65,121,268 (GRCm39) S20R probably benign Het
Cyp3a25 T C 5: 145,928,334 (GRCm39) N237S probably benign Het
Dkk3 C T 7: 111,717,558 (GRCm39) A304T probably benign Het
Dst T C 1: 34,310,503 (GRCm39) L4101S probably damaging Het
Dysf A G 6: 84,126,968 (GRCm39) N1407S possibly damaging Het
Epb41 A G 4: 131,727,581 (GRCm39) V265A probably damaging Het
Faim2 C T 15: 99,419,109 (GRCm39) E75K possibly damaging Het
Fam237b T A 5: 5,625,387 (GRCm39) F28I probably benign Het
Fbn1 T A 2: 125,159,454 (GRCm39) D2208V probably damaging Het
Fbxo28 A G 1: 182,153,950 (GRCm39) S129P probably damaging Het
Fbxw14 T A 9: 109,105,269 (GRCm39) I299L probably benign Het
Fras1 C T 5: 96,795,357 (GRCm39) A1050V probably benign Het
Fyb1 C A 15: 6,668,292 (GRCm39) T495K probably damaging Het
Ghdc A T 11: 100,659,977 (GRCm39) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gm12250 G T 11: 58,079,210 (GRCm39) noncoding transcript Het
Gm4846 A T 1: 166,311,503 (GRCm39) F452Y probably damaging Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Gpd2 C A 2: 57,197,025 (GRCm39) Y193* probably null Het
Grhl2 G T 15: 37,287,493 (GRCm39) R229L probably benign Het
Gtf2a1 A G 12: 91,542,523 (GRCm39) F59L possibly damaging Het
Heatr1 G T 13: 12,425,480 (GRCm39) W640L probably benign Het
Kalrn A T 16: 34,177,785 (GRCm39) probably null Het
Keap1 T C 9: 21,148,582 (GRCm39) T142A probably damaging Het
Kpna2 G A 11: 106,882,061 (GRCm39) T255M probably damaging Het
Kpna3 A G 14: 61,607,838 (GRCm39) C456R probably damaging Het
Lama1 G A 17: 68,074,561 (GRCm39) probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mag C A 7: 30,608,581 (GRCm39) E178* probably null Het
Map3k13 A G 16: 21,729,769 (GRCm39) I467V probably benign Het
Mga A G 2: 119,733,782 (GRCm39) E210G probably damaging Het
Msi2 C T 11: 88,257,610 (GRCm39) probably null Het
Naa16 A T 14: 79,582,525 (GRCm39) D521E probably damaging Het
Nav2 C T 7: 48,954,288 (GRCm39) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T C 8: 22,586,815 (GRCm39) K332R probably benign Het
Nek5 T A 8: 22,569,104 (GRCm39) I573L probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Odad1 A C 7: 45,591,615 (GRCm39) E293A probably damaging Het
Or2w1 G A 13: 21,317,514 (GRCm39) V190I probably benign Het
Or5v1b A T 17: 37,841,641 (GRCm39) T258S possibly damaging Het
Or6c204 T A 10: 129,022,466 (GRCm39) T275S probably benign Het
Or8b12b T A 9: 37,684,360 (GRCm39) M135K probably damaging Het
Orai1 T G 5: 123,167,313 (GRCm39) V162G probably damaging Het
P2rx6 T C 16: 17,385,308 (GRCm39) S134P probably damaging Het
Pappa2 G A 1: 158,684,706 (GRCm39) T811I probably null Het
Pcdhga10 T C 18: 37,880,213 (GRCm39) probably benign Het
Pex16 C T 2: 92,209,405 (GRCm39) R241* probably null Het
Plxnb1 T C 9: 108,943,904 (GRCm39) F1969L probably damaging Het
Postn A G 3: 54,297,736 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,277 (GRCm39) I752N probably damaging Het
Rasgef1c A T 11: 49,870,339 (GRCm39) K468M probably damaging Het
Rbfox1 A G 16: 7,094,952 (GRCm39) S111G probably benign Het
Rbm28 T C 6: 29,138,597 (GRCm39) D405G probably damaging Het
Rell1 A G 5: 64,097,010 (GRCm39) probably benign Het
Rfx3 A G 19: 27,808,072 (GRCm39) S224P probably damaging Het
Scarb2 A T 5: 92,602,636 (GRCm39) I260K probably damaging Het
Septin4 A G 11: 87,458,598 (GRCm39) N324S probably benign Het
Slc15a4 A G 5: 127,680,901 (GRCm39) F72L probably damaging Het
Spg7 C A 8: 123,816,910 (GRCm39) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm39) T164A probably benign Het
Syt11 C T 3: 88,669,590 (GRCm39) G101S possibly damaging Het
Traj12 A G 14: 54,444,013 (GRCm39) probably benign Het
Traj7 A T 14: 54,448,981 (GRCm39) probably benign Het
Tysnd1 C T 10: 61,537,855 (GRCm39) T175I possibly damaging Het
Usp48 T G 4: 137,334,004 (GRCm39) Y139* probably null Het
Vmn2r72 A G 7: 85,400,317 (GRCm39) L244P probably benign Het
Wasf1 C A 10: 40,812,186 (GRCm39) P325Q unknown Het
Zfp712 A G 13: 67,188,905 (GRCm39) S541P possibly 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
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
R7674:Zc3h18 UTSW 8 123,110,295 (GRCm39) frame shift probably null
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'- TGCATACAAGCCTCCATTCC -3'
(R):5'- CTAGTTCAAGCATGGGATGGGG -3'

Sequencing Primer
(F):5'- ATTCCTGAGACTGCGCGATG -3'
(R):5'- CAAGCATGGGATGGGGAGAGTG -3'
Posted On 2016-04-27