Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Zc3h18'

253806

Institutional Source

Beutler Lab

Gene Symbol

Zc3h18

Ensembl Gene

ENSMUSG00000017478

Gene Name

zinc finger CCCH-type containing 18

Synonyms

5830416A07Rik, 1190001B23Rik

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123103348-123144099 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 123129904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q0P678

Predicted Effect

unknown
Transcript: ENSMUST00000017622
AA Change: E427D

SMART Domains

Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: E427D

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: E403D

SMART Domains

Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: E403D

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

noncoding transcript
Transcript: ENSMUST00000175798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175819

SMART Domains

Protein: ENSMUSP00000135055
Gene: ENSMUSG00000017478

Domain	Start	End	E-Value	Type
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: E427D

SMART Domains

Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: E427D

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

noncoding transcript
Transcript: ENSMUST00000177123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177195

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	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
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
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'- TGGACATACTTGGTCAGTGAC -3'
(R):5'- CTGACAGATGGGATTTAGGGTGAC -3'

Sequencing Primer
(F):5'- GTGACTTAAAGAAGGCTCTCACCTG -3'
(R):5'- TGACCTACCTCGGTGGCTG -3'

Posted On

2014-12-04