Mutagenetix > Incidental Mutation

Incidental Mutation 'R8759:Zc3h18'

671795

Institutional Source

Beutler Lab

Gene Symbol

Zc3h18

Ensembl Gene

ENSMUSG00000017478

Gene Name

zinc finger CCCH-type containing 18

Synonyms

5830416A07Rik, 1190001B23Rik

MMRRC Submission

068718-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123103348-123144099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123138124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 687 (E687G)

Ref Sequence

ENSEMBL: ENSMUSP00000017622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017622] [ENSMUST00000093073] [ENSMUST00000127664] [ENSMUST00000176629]

AlphaFold

Q0P678

Predicted Effect

unknown
Transcript: ENSMUST00000017622
AA Change: E687G

SMART Domains

Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: E687G

Domain	Start	End	E-Value	Type
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: E663G

SMART Domains

Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: E663G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: E687G

SMART Domains

Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: E687G

Domain	Start	End	E-Value	Type
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: E20G

Domain	Start	End	E-Value	Type
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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,365,916 (GRCm39)	T276A	probably benign	Het
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adamts18	G	A	8: 114,433,624 (GRCm39)	P1037S	probably damaging	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Aqp4	T	G	18: 15,533,048 (GRCm39)	H15P	probably benign	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cdh15	A	G	8: 123,587,628 (GRCm39)	D184G	probably damaging	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Cog6	A	G	3: 52,897,465 (GRCm39)	L536P	probably damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Ddx50	T	C	10: 62,452,021 (GRCm39)	D734G	unknown	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Drg1	T	C	11: 3,204,633 (GRCm39)	S198G	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm17027	T	C	14: 41,981,251 (GRCm39)	I202V		Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Lyz3	T	A	10: 117,070,340 (GRCm39)	I146F	probably damaging	Het
Mast2	A	T	4: 116,292,757 (GRCm39)	F71Y	possibly damaging	Het
Mkrn1	C	A	6: 39,376,344 (GRCm39)	E421*	probably null	Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nrg1	C	A	8: 32,308,103 (GRCm39)	A686S	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Plxna4	T	A	6: 32,169,276 (GRCm39)	D1307V	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptch2	T	C	4: 116,967,630 (GRCm39)	L766P	probably damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Shprh	T	G	10: 11,032,908 (GRCm39)	V298G	possibly damaging	Het
Slc37a4	C	T	9: 44,313,632 (GRCm39)	T386I	probably benign	Het
Slc4a3	T	C	1: 75,531,282 (GRCm39)	I825T	probably damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Tigar	A	T	6: 127,068,220 (GRCm39)	I66K	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,924,501 (GRCm39)	R1066C	possibly damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Vmn1r13	A	G	6: 57,187,524 (GRCm39)	T228A	probably damaging	Het
Xab2	T	C	8: 3,661,672 (GRCm39)	T594A	probably benign	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het

Other mutations in Zc3h18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AACTGTAGAACCCTGAGATGTGG -3'
(R):5'- GCAGCATAGTTCACCTCAGAGG -3'

Sequencing Primer
(F):5'- GGTTTATTGAGCAGGGACCC -3'
(R):5'- CACCAGGCTGCTAACAGG -3'

Posted On

2021-04-30