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

5830416A07Rik, 1190001B23Rik

MMRRC Submission

041961-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123103348-123144099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123110382 bp (GRCm39)

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
2700062C07Rik	A	G	18: 24,603,961 (GRCm39)	M1V	probably null	Het
Abcb11	T	A	2: 69,154,306 (GRCm39)	T87S	possibly damaging	Het
Arap3	A	G	18: 38,129,328 (GRCm39)	V210A	probably benign	Het
Avl9	T	C	6: 56,713,479 (GRCm39)	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Cdhr18	T	C	14: 13,845,292 (GRCm38)	N540S	probably benign	Het
Cfap96	A	T	8: 46,423,454 (GRCm39)	M86K	possibly damaging	Het
Chsy3	C	A	18: 59,312,485 (GRCm39)	F319L	probably benign	Het
Coro2b	T	C	9: 62,333,860 (GRCm39)	T345A	probably benign	Het
Cpb1	A	G	3: 20,317,876 (GRCm39)	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,060,778 (GRCm39)	I213V	probably benign	Het
Dcaf15	A	G	8: 84,824,357 (GRCm39)	C586R	probably benign	Het
Ddr2	T	A	1: 169,825,657 (GRCm39)	E314D	probably benign	Het
Dennd5a	C	T	7: 109,495,543 (GRCm39)	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,957,027 (GRCm39)		probably null	Het
Eif2ak4	A	T	2: 118,252,568 (GRCm39)	H302L	probably damaging	Het
Eif2d	G	T	1: 131,092,889 (GRCm39)	R399L	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Fhod3	T	A	18: 25,161,192 (GRCm39)	Y575N	probably benign	Het
Fscb	T	C	12: 64,521,244 (GRCm39)	E74G	possibly damaging	Het
Gdpd2	G	A	X: 99,777,799 (GRCm39)	M243I	possibly damaging	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gnl2	T	C	4: 124,934,811 (GRCm39)	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,085 (GRCm39)	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,480,040 (GRCm39)	H2892L	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Impact	T	A	18: 13,118,346 (GRCm39)	H188Q	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnx2	C	T	5: 146,965,947 (GRCm39)	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,526,586 (GRCm39)	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,627,345 (GRCm39)	Q458H	probably damaging	Het
Maml3	A	T	3: 51,597,296 (GRCm39)	D483E	probably damaging	Het
Mef2c	T	A	13: 83,810,748 (GRCm39)	*467R	probably null	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,969,925 (GRCm39)	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,860,679 (GRCm39)	Y426H	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Oog2	T	C	4: 143,923,021 (GRCm39)	S429P	probably benign	Het
Or4d1	T	A	11: 87,805,016 (GRCm39)	T239S	probably damaging	Het
Or51f1	A	G	7: 102,506,186 (GRCm39)	I101T	probably damaging	Het
Or5p1	A	T	7: 107,916,959 (GRCm39)	N286I	probably damaging	Het
Or5p51	T	C	7: 107,444,635 (GRCm39)	I102V	probably benign	Het
Pcnt	T	C	10: 76,273,040 (GRCm39)	D93G	probably benign	Het
Pdia5	A	T	16: 35,276,883 (GRCm39)	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,668,133 (GRCm39)	R762*	probably null	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,470,428 (GRCm39)	Y141H	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Rassf8	G	T	6: 145,761,266 (GRCm39)	K197N	probably benign	Het
Ryr2	T	C	13: 11,752,639 (GRCm39)	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,740,847 (GRCm39)	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,368,604 (GRCm39)	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,356,060 (GRCm39)	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc2a9	C	A	5: 38,539,442 (GRCm39)	G353C	probably damaging	Het
Snx33	T	A	9: 56,833,185 (GRCm39)	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Supt6	T	C	11: 78,115,509 (GRCm39)	D761G	probably benign	Het
Tfeb	T	C	17: 48,096,787 (GRCm39)	V18A	probably benign	Het
Thap12	G	T	7: 98,365,161 (GRCm39)	C443F	probably damaging	Het
Thap12	T	A	7: 98,365,162 (GRCm39)	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158 (GRCm39)	D496G	probably benign	Het
Trappc8	G	A	18: 20,974,629 (GRCm39)	R900*	probably null	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,318,388 (GRCm39)	I80L	probably benign	Het
Trpm5	C	A	7: 142,636,522 (GRCm39)	V472L	probably benign	Het
Tspear	C	T	10: 77,700,529 (GRCm39)	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,355,443 (GRCm39)	V238M	probably benign	Het
Usp20	A	G	2: 30,909,836 (GRCm39)	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,897,795 (GRCm39)	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (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
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'- GGCACTCTCAGATGATGACATTC -3'
(R):5'- TGAACATCAGGCTTCCCTTC -3'

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

Posted On

2015-11-11