Mutagenetix > Incidental Mutation

Incidental Mutation 'R8986:Zc3h18'

684036

Institutional Source

Beutler Lab

Gene Symbol

Zc3h18

Ensembl Gene

ENSMUSG00000017478

Gene Name

zinc finger CCCH-type containing 18

Synonyms

5830416A07Rik, 1190001B23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8986 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123103348-123144099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123134193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 553 (V553A)

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: V553A

SMART Domains

Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: V553A

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: V529A

SMART Domains

Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: V529A

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: V553A

SMART Domains

Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: V553A

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 benign
Transcript: ENSMUST00000177049

SMART Domains

Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adamts10	C	T	17: 33,762,668 (GRCm39)	A549V	probably benign	Het
Akap13	T	C	7: 75,259,074 (GRCm39)	M566T	probably benign	Het
Alb	A	G	5: 90,615,225 (GRCm39)	T246A	probably benign	Het
Cyfip1	C	T	7: 55,558,140 (GRCm39)	R806C	probably damaging	Het
Cyp11a1	T	A	9: 57,925,644 (GRCm39)	I195N	probably damaging	Het
Dclre1a	C	G	19: 56,526,826 (GRCm39)	Q863H		Het
Ddx19a	A	G	8: 111,705,188 (GRCm39)	V311A	probably benign	Het
Dnajc13	A	T	9: 104,057,330 (GRCm39)	F1557I	probably damaging	Het
Eml6	T	A	11: 29,755,181 (GRCm39)	T865S	possibly damaging	Het
Esrrg	T	A	1: 187,943,104 (GRCm39)	I382K	possibly damaging	Het
Fam149a	G	A	8: 45,811,837 (GRCm39)	T22M		Het
Fam227b	A	T	2: 125,958,019 (GRCm39)	Y249N	probably damaging	Het
Fanci	G	A	7: 79,095,472 (GRCm39)	V1217I	probably benign	Het
Fermt2	A	G	14: 45,742,023 (GRCm39)	Y108H	probably benign	Het
Gkn1	A	T	6: 87,325,160 (GRCm39)	V83E	probably damaging	Het
Glmp	T	A	3: 88,233,002 (GRCm39)	S47T	probably benign	Het
Greb1	T	C	12: 16,734,457 (GRCm39)	H1511R	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Htra3	A	T	5: 35,836,372 (GRCm39)	C107S	probably damaging	Het
Ighv1-58	T	C	12: 115,275,835 (GRCm39)	Q101R	probably benign	Het
Ighv6-5	A	T	12: 114,380,382 (GRCm39)	L45*	probably null	Het
Igtp	T	A	11: 58,096,947 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,533,696 (GRCm39)	S531P	probably damaging	Het
Kcnd3	A	T	3: 105,367,039 (GRCm39)	H303L	probably damaging	Het
Kcnj3	G	T	2: 55,485,039 (GRCm39)	S379I	probably benign	Het
Lrrc36	T	C	8: 106,176,093 (GRCm39)	S156P	possibly damaging	Het
Mical3	G	T	6: 120,991,822 (GRCm39)	D250E		Het
Msh3	T	C	13: 92,483,334 (GRCm39)	T270A	probably damaging	Het
Myrfl	A	G	10: 116,658,746 (GRCm39)	W404R	probably damaging	Het
Nol7	T	C	13: 43,554,985 (GRCm39)	F206S	probably damaging	Het
Obi1	T	C	14: 104,745,418 (GRCm39)	H86R	probably damaging	Het
Or12e13	A	T	2: 87,663,655 (GRCm39)	I91F	possibly damaging	Het
Or2ag1	A	G	7: 106,473,050 (GRCm39)	I134T	probably benign	Het
Paox	A	G	7: 139,706,503 (GRCm39)	E141G	probably benign	Het
Plod1	A	T	4: 147,997,734 (GRCm39)	H658Q	probably damaging	Het
Pou4f1	T	C	14: 104,704,087 (GRCm39)	D115G	probably damaging	Het
Ppp1r26	G	T	2: 28,342,802 (GRCm39)	E811*	probably null	Het
Qsox1	C	T	1: 155,666,829 (GRCm39)	R220K	probably damaging	Het
Rabgap1l	C	T	1: 160,085,105 (GRCm39)	V781I	probably damaging	Het
Rad50	T	C	11: 53,541,354 (GRCm39)	D1294G	possibly damaging	Het
Rbp7	C	T	4: 149,537,371 (GRCm39)	V97I	probably benign	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Sdcbp2	T	C	2: 151,429,150 (GRCm39)	V183A	probably benign	Het
Slfn2	C	G	11: 82,960,427 (GRCm39)	I135M	possibly damaging	Het
Sntg1	T	A	1: 8,484,491 (GRCm39)	D443V	possibly damaging	Het
Tas2r105	G	A	6: 131,663,913 (GRCm39)	Q172*	probably null	Het
Tfdp2	A	G	9: 96,172,637 (GRCm39)	R44G	probably damaging	Het
Thbd	A	T	2: 148,248,480 (GRCm39)	C463S	probably damaging	Het
Tnxb	T	C	17: 34,897,646 (GRCm39)	V807A	possibly damaging	Het
Trim68	T	A	7: 102,327,808 (GRCm39)	K382*	probably null	Het
Vmn2r110	T	A	17: 20,803,823 (GRCm39)	I251F	probably damaging	Het
Vmn2r61	A	T	7: 41,915,325 (GRCm39)	R91*	probably null	Het
Vmn2r-ps117	G	A	17: 19,044,943 (GRCm39)	W453*	probably null	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp791	A	G	8: 85,837,327 (GRCm39)	F179S	probably benign	Het
Zyg11a	A	T	4: 108,041,628 (GRCm39)		probably null	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
R8759:Zc3h18	UTSW	8	123,138,124 (GRCm39)	missense	unknown
R8797:Zc3h18	UTSW	8	123,134,989 (GRCm39)	unclassified	probably benign
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'- TCGAGTGTCTCAGGTGAATGC -3'
(R):5'- ACACTTGGCATCAGTCCTC -3'

Sequencing Primer
(F):5'- TCTCAGGTGAATGCCCTGG -3'
(R):5'- GGCATCAGTCCTCCCTAGTAATC -3'

Posted On

2021-10-11