Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Zc3h18'

359167

Institutional Source

Beutler Lab

Gene Symbol

Zc3h18

Ensembl Gene

ENSMUSG00000017478

Gene Name

zinc finger CCCH-type containing 18

Synonyms

MMRRC Submission

041961-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122376609-122417360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122383643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 77 (D77V)

Ref Sequence

ENSEMBL: ENSMUSP00000134743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017622] [ENSMUST00000093073] [ENSMUST00000127664] [ENSMUST00000176629] [ENSMUST00000176699]

AlphaFold

Q0P678

Predicted Effect

probably damaging
Transcript: ENSMUST00000017622
AA Change: D77V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: D77V

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

probably damaging
Transcript: ENSMUST00000093073
AA Change: D77V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: D77V

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

probably damaging
Transcript: ENSMUST00000176629
AA Change: D77V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: D77V

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

probably damaging
Transcript: ENSMUST00000176699
AA Change: D77V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177386

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,417	M86K	possibly damaging	Het
2700062C07Rik	A	G	18: 24,470,904	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Chsy3	C	A	18: 59,179,413	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999		probably null	Het
Eif2ak4	A	T	2: 118,422,087	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gm281	T	C	14: 13,845,292	N540S	probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Gnl2	T	C	4: 125,041,018	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977	H2892L	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Impact	T	A	18: 12,985,289	H188Q	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285	Q458H	probably damaging	Het
Maml3	A	T	3: 51,689,875	D483E	probably damaging	Het
Mef2c	T	A	13: 83,662,629	*467R	probably null	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr464	T	A	11: 87,914,190	T239S	probably damaging	Het
Olfr470	T	C	7: 107,845,428	I102V	probably benign	Het
Olfr491	A	T	7: 108,317,752	N286I	probably damaging	Het
Olfr566	A	G	7: 102,856,979	I101T	probably damaging	Het
Oog2	T	C	4: 144,196,451	S429P	probably benign	Het
Pcnt	T	C	10: 76,437,206	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,770,252	R762*	probably null	Het
Piezo1	G	T	8: 122,498,206	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,431,269	Y141H	probably benign	Het
Rassf8	G	T	6: 145,815,540	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862	V18A	probably benign	Het
Thap12	G	T	7: 98,715,954	C443F	probably damaging	Het
Thap12	T	A	7: 98,715,955	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572	R900*	probably null	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het

Other mutations in Zc3h18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7371:Zc3h18	UTSW	8	122413021	missense	unknown
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
R8759:Zc3h18	UTSW	8	122411385	missense	unknown
R8797:Zc3h18	UTSW	8	122408250	unclassified	probably benign
R8986:Zc3h18	UTSW	8	122407454	missense	unknown
R9016:Zc3h18	UTSW	8	122403224	missense	unknown
V1024:Zc3h18	UTSW	8	122383857	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCACTCTCAGATGATGACATTC -3'
(R):5'- TGAACATCAGGCTTCCCTTC -3'

Sequencing Primer
(F):5'- TGACATTCTAAGAGAAAGTGGATCTG -3'
(R):5'- AGCCCCAGCCTTCTCAG -3'

Posted On

2015-11-11