Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Zc3h18'

593099

Institutional Source

Beutler Lab

Gene Symbol

Zc3h18

Ensembl Gene

ENSMUSG00000017478

Gene Name

zinc finger CCCH-type containing 18

Synonyms

5830416A07Rik, 1190001B23Rik

MMRRC Submission

045751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123103348-123144099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123140615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 850 (R850Q)

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: R850Q

SMART Domains

Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: R850Q

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: R826Q

SMART Domains

Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: R826Q

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: R828Q

SMART Domains

Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: R828Q

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: R183Q

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,887,557 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,664,430 (GRCm39)	I347F		Het
Agmo	T	C	12: 37,469,973 (GRCm39)	V431A	probably benign	Het
Arl14epl	A	G	18: 47,065,523 (GRCm39)	D96G	probably damaging	Het
Asxl1	C	T	2: 153,233,534 (GRCm39)	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,223,034 (GRCm39)	C81*	probably null	Het
Bloc1s3	C	T	7: 19,241,531 (GRCm39)		probably benign	Het
Bmper	C	G	9: 23,310,840 (GRCm39)	L425V	probably benign	Het
Bok	A	T	1: 93,622,822 (GRCm39)	T194S	probably benign	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Brcc3dc	T	C	10: 108,535,301 (GRCm39)	E218G	probably damaging	Het
Brd10	A	T	19: 29,694,870 (GRCm39)	I1541N	probably benign	Het
Brpf3	T	C	17: 29,025,908 (GRCm39)	I327T	probably damaging	Het
Camk1	T	A	6: 113,313,158 (GRCm39)	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,227,937 (GRCm39)		probably null	Het
Ccdc171	A	T	4: 83,575,556 (GRCm39)	N480I	unknown	Het
Cd83	A	G	13: 43,938,848 (GRCm39)	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964 (GRCm39)	D243G	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Ctla4	A	T	1: 60,951,752 (GRCm39)	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Dhx32	A	T	7: 133,361,430 (GRCm39)	M1K	probably null	Het
Epha3	T	A	16: 63,593,651 (GRCm39)	I146F	probably damaging	Het
Erbb2	T	A	11: 98,326,399 (GRCm39)	S1008T	probably benign	Het
Esp34	A	G	17: 38,870,534 (GRCm39)	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,335,233 (GRCm39)	K654E	possibly damaging	Het
Fgr	T	C	4: 132,725,324 (GRCm39)	M343T	probably benign	Het
Fibcd1	T	G	2: 31,723,880 (GRCm39)	D253A	probably damaging	Het
Foxk1	C	T	5: 142,387,625 (GRCm39)	S116L	probably damaging	Het
Gimap8	G	A	6: 48,633,006 (GRCm39)	G275E	probably damaging	Het
Glp1r	T	C	17: 31,144,633 (GRCm39)	Y269H	probably damaging	Het
H2ac20	T	C	3: 96,127,886 (GRCm39)	E92G	probably damaging	Het
Lbr	A	G	1: 181,645,086 (GRCm39)	F522S	probably damaging	Het
Lca5	T	C	9: 83,277,292 (GRCm39)	N684S	probably benign	Het
Leng8	C	A	7: 4,146,504 (GRCm39)	S372*	probably null	Het
Lrp2	A	G	2: 69,319,581 (GRCm39)	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,389,062 (GRCm39)	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,866,332 (GRCm39)	T466A	probably benign	Het
Map3k19	A	T	1: 127,749,985 (GRCm39)	L1122*	probably null	Het
Mfsd6	T	C	1: 52,701,554 (GRCm39)	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,448,052 (GRCm39)	A301V	probably benign	Het
Mro	A	T	18: 74,010,510 (GRCm39)	M197L	probably benign	Het
Ncam2	A	T	16: 81,418,342 (GRCm39)	E799V	probably damaging	Het
Nek9	A	T	12: 85,350,433 (GRCm39)	D880E	probably benign	Het
Ntng1	T	A	3: 109,842,330 (GRCm39)	I148L	possibly damaging	Het
Or1ad6	A	G	11: 50,860,582 (GRCm39)	T246A	possibly damaging	Het
Or5ac23	T	A	16: 59,149,379 (GRCm39)	R164S	probably damaging	Het
P2ry13	C	T	3: 59,117,439 (GRCm39)	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,107,070 (GRCm39)	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,149,486 (GRCm39)	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,413,396 (GRCm39)	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,578,783 (GRCm39)	S496C	probably benign	Het
Prdm12	G	A	2: 31,530,229 (GRCm39)	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	A	T	6: 76,474,013 (GRCm39)	L201H	probably damaging	Het
Robo2	C	A	16: 73,755,293 (GRCm39)	V743F	probably damaging	Het
Scart1	T	A	7: 139,802,116 (GRCm39)	C148*	probably null	Het
Scart2	A	G	7: 139,828,965 (GRCm39)	N208S	probably benign	Het
Smg1	A	T	7: 117,767,081 (GRCm39)	Y1804N	unknown	Het
Ssh2	A	G	11: 77,316,150 (GRCm39)	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,410,589 (GRCm39)	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,645,154 (GRCm39)	D950G	probably damaging	Het
Syt10	T	C	15: 89,698,360 (GRCm39)	D328G	probably damaging	Het
Taf3	T	C	2: 9,956,299 (GRCm39)	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,518,255 (GRCm39)	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Tjp3	C	T	10: 81,113,885 (GRCm39)	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Tram1l1	T	C	3: 124,114,959 (GRCm39)	F40L	probably benign	Het
Ttc29	A	T	8: 79,119,759 (GRCm39)	T464S	probably benign	Het
Txndc9	A	T	1: 38,026,849 (GRCm39)	M192K	probably benign	Het
Urb2	C	A	8: 124,771,911 (GRCm39)	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075 (GRCm39)	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,590 (GRCm39)	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,589,744 (GRCm39)	I724N	probably damaging	Het
Xkr6	C	T	14: 63,844,295 (GRCm39)	T106M	possibly damaging	Het
Zfp341	A	G	2: 154,466,781 (GRCm39)	E50G	probably damaging	Het
Zfp62	C	A	11: 49,107,985 (GRCm39)	A692E	probably damaging	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
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'- GTTGAGATCCTGCAAGGCAC -3'
(R):5'- TCAGAATATACTGGTGTCAAGCCC -3'

Sequencing Primer
(F):5'- TTCCTCATGCAGCACAGAGG -3'
(R):5'- GTGTCAAGCCCCCGCAG -3'

Posted On

2019-11-12