Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Zc3h14'

166575

Institutional Source

Beutler Lab

Gene Symbol

Zc3h14

Ensembl Gene

ENSMUSG00000021012

Gene Name

zinc finger CCCH type containing 14

Synonyms

1700016A15Rik, 1010001P15Rik, 2700069A02Rik

MMRRC Submission

039569-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98746964-98787753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98785003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 159 (C159W)

Ref Sequence

ENSEMBL: ENSMUSP00000152746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021399] [ENSMUST00000057000] [ENSMUST00000065716] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532] [ENSMUST00000223282]

AlphaFold

Q8BJ05

Predicted Effect

probably damaging
Transcript: ENSMUST00000021399
AA Change: C226W

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

SMART Domains

Protein: ENSMUSP00000021399
Gene: ENSMUSG00000021012
AA Change: C226W

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	69	91	N/A	INTRINSIC
ZnF_C3H1	170	193	7.16e-1	SMART
ZnF_C3H1	195	214	5.27e1	SMART
ZnF_C3H1	250	272	5.55e0	SMART
Pfam:zf-CCCH_2	273	290	1.3e-3	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057000
AA Change: C496W

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: C496W

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	440	463	7.16e-1	SMART
ZnF_C3H1	465	484	5.27e1	SMART
ZnF_C3H1	520	542	5.55e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065716

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166

Domain	Start	End	E-Value	Type
Pfam:HELP	1	49	3.3e-21	PFAM
WD40	50	91	6.42e-1	SMART
WD40	94	136	1.08e-4	SMART
WD40	139	178	1.27e-1	SMART
WD40	184	224	2.75e1	SMART
WD40	225	263	2.65e-4	SMART
Blast:WD40	265	312	2e-22	BLAST
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.2e2	SMART
WD40	397	436	8.59e-1	SMART
WD40	444	479	6.6e1	SMART
WD40	505	546	2.74e2	SMART
WD40	552	592	4.8e-2	SMART
low complexity region	609	632	N/A	INTRINSIC
Pfam:HELP	656	715	1.4e-20	PFAM
WD40	716	757	1.18e-1	SMART
WD40	760	802	2.84e-4	SMART
WD40	805	844	1.91e1	SMART
WD40	853	891	2.64e2	SMART
WD40	892	929	3.45e-3	SMART
WD40	985	1026	4.55e-3	SMART
WD40	1029	1068	6.39e0	SMART
WD40	1071	1111	5.15e-2	SMART
WD40	1180	1221	1.9e2	SMART
WD40	1227	1267	1.38e0	SMART
low complexity region	1280	1297	N/A	INTRINSIC
Pfam:HELP	1335	1410	2.4e-16	PFAM
Blast:WD40	1412	1462	8e-28	BLAST
WD40	1465	1507	1.56e-1	SMART
WD40	1510	1549	2.06e0	SMART
WD40	1558	1597	8.22e1	SMART
WD40	1599	1644	4.26e1	SMART
WD40	1690	1730	2.19e-5	SMART
WD40	1774	1813	5.97e-1	SMART
WD40	1884	1925	2.39e0	SMART
WD40	1931	1971	2.88e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110104
AA Change: C521W

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

SMART Domains

Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: C521W

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	465	488	7.16e-1	SMART
ZnF_C3H1	490	509	5.27e1	SMART
ZnF_C3H1	545	567	5.55e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110105
AA Change: C652W

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

SMART Domains

Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: C652W

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	596	619	7.16e-1	SMART
ZnF_C3H1	621	640	5.27e1	SMART
ZnF_C3H1	676	698	5.55e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000220660
AA Change: C17W

Predicted Effect

probably damaging
Transcript: ENSMUST00000221532
AA Change: C159W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222717

Predicted Effect

probably benign
Transcript: ENSMUST00000223451

Predicted Effect

probably benign
Transcript: ENSMUST00000223282

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,569,378	C425R	probably damaging	Het
Adam15	A	G	3: 89,349,830	S20P	probably damaging	Het
Adgra3	G	A	5: 49,961,137	T1023I	probably benign	Het
Angel2	T	A	1: 190,939,088	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,991,721	M321K	probably damaging	Het
Atad2b	C	T	12: 4,942,018	R206*	probably null	Het
Atp10b	T	A	11: 43,197,524	F319Y	probably benign	Het
AW554918	A	G	18: 25,400,104	R272G	probably damaging	Het
BC027072	A	G	17: 71,749,478	V1068A	probably benign	Het
Bpi	T	A	2: 158,261,145	I70N	probably damaging	Het
Brca1	T	C	11: 101,524,695	D871G	probably damaging	Het
Capn3	G	A	2: 120,482,208	A160T	probably damaging	Het
Cenpe	T	C	3: 135,246,902	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,732,488	M1T	probably null	Het
Csrnp1	G	C	9: 119,973,546	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,819,874	P545S	probably damaging	Het
Erap1	A	G	13: 74,646,543	E107G	probably benign	Het
Errfi1	A	G	4: 150,865,386	I49V	probably benign	Het
Fam160b1	T	A	19: 57,386,305	I704N	probably damaging	Het
Fam171b	T	C	2: 83,880,189	L735S	probably damaging	Het
Fancm	T	A	12: 65,092,490		probably null	Het
Fbp2	G	C	13: 62,837,159	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,682,976	G255V	probably damaging	Het
Fzd2	T	C	11: 102,605,308	S193P	probably benign	Het
Gak	A	G	5: 108,624,193	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,433,769	I7T	probably benign	Het
Gbp11	T	C	5: 105,327,489	H331R	probably damaging	Het
Gpr19	C	T	6: 134,869,998	V241M	probably damaging	Het
Grk6	G	A	13: 55,458,799	A437T	probably damaging	Het
Hip1	T	C	5: 135,444,780	D253G	probably damaging	Het
Ifna9	G	C	4: 88,592,172	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,312,361	T384A	probably benign	Het
Ip6k1	C	A	9: 108,045,562	C221*	probably null	Het
Kcna1	C	A	6: 126,642,531	E275D	probably benign	Het
Kcnt2	C	T	1: 140,484,232	Q468*	probably null	Het
Kin	T	C	2: 10,092,339	V333A	probably damaging	Het
Leprot	G	T	4: 101,656,287	V91L	probably benign	Het
Mettl21c	A	G	1: 44,017,184		probably null	Het
Myom2	T	C	8: 15,122,384	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,248,909	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,022	*72K	probably null	Het
Nol3	T	C	8: 105,279,226	V84A	probably benign	Het
Olfr1188	A	T	2: 88,559,483	I5F	probably benign	Het
Olfr1388	C	T	11: 49,443,905	S18L	probably benign	Het
Olfr901	T	C	9: 38,430,324	I14T	probably damaging	Het
Pdgfra	T	A	5: 75,189,010		probably null	Het
Pik3cb	T	C	9: 99,053,973	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,178,931	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,167,192	S275P	probably benign	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rapgef6	T	A	11: 54,661,183	I959K	probably damaging	Het
Scn5a	T	C	9: 119,495,562	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,826,684	S263P	probably damaging	Het
Setd5	G	A	6: 113,109,913	V34I	probably damaging	Het
Slc17a2	A	G	13: 23,819,069	D234G	probably damaging	Het
Spink5	T	A	18: 44,015,671	S934T	probably damaging	Het
St18	A	C	1: 6,845,569		probably null	Het
St3gal4	T	C	9: 35,052,296	I239V	probably benign	Het
Stag3	C	T	5: 138,297,412	T399I	probably damaging	Het
Syt11	T	C	3: 88,762,367	K6E	probably damaging	Het
Taf15	T	C	11: 83,487,296	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,496,055	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688	W406R	probably damaging	Het
Tgm6	A	G	2: 130,151,282	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,827,009		probably null	Het
Tmub2	T	C	11: 102,287,486	S72P	probably benign	Het
Trappc13	G	A	13: 104,150,143	T202I	probably damaging	Het
Trim9	T	C	12: 70,272,428	E449G	probably damaging	Het
Trip11	C	A	12: 101,912,767	G21V	unknown	Het
Ttll12	G	A	15: 83,588,655	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,351,152	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,329,944	D319G	probably damaging	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfhx3	C	T	8: 108,948,489	P2057L	probably damaging	Het

Other mutations in Zc3h14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Zc3h14	APN	12	98747524	critical splice donor site	probably null
IGL00946:Zc3h14	APN	12	98759883	splice site	probably benign
IGL00969:Zc3h14	APN	12	98758843	missense	probably benign	0.00
IGL01626:Zc3h14	APN	12	98779186	missense	possibly damaging	0.72
IGL01891:Zc3h14	APN	12	98758947	unclassified	probably benign
IGL02119:Zc3h14	APN	12	98763895	missense	probably benign	0.00
IGL02484:Zc3h14	APN	12	98774301	missense	probably benign	0.14
IGL02744:Zc3h14	APN	12	98784975	missense	possibly damaging	0.67
IGL02894:Zc3h14	APN	12	98758943	critical splice donor site	probably null
R0408:Zc3h14	UTSW	12	98763823	missense	probably damaging	1.00
R0739:Zc3h14	UTSW	12	98757201	missense	probably damaging	0.99
R0865:Zc3h14	UTSW	12	98779269	critical splice donor site	probably null
R0926:Zc3h14	UTSW	12	98758590	missense	possibly damaging	0.94
R1735:Zc3h14	UTSW	12	98758580	missense	probably damaging	1.00
R1743:Zc3h14	UTSW	12	98779189	missense	probably benign	0.04
R1848:Zc3h14	UTSW	12	98752832	missense	possibly damaging	0.89
R1851:Zc3h14	UTSW	12	98760354	nonsense	probably null
R1978:Zc3h14	UTSW	12	98763922	missense	probably damaging	0.97
R2011:Zc3h14	UTSW	12	98780268	missense	possibly damaging	0.76
R2198:Zc3h14	UTSW	12	98752809	missense	probably damaging	1.00
R2198:Zc3h14	UTSW	12	98752810	missense	possibly damaging	0.94
R2263:Zc3h14	UTSW	12	98758514	missense	probably benign	0.32
R3762:Zc3h14	UTSW	12	98758643	missense	probably damaging	1.00
R4210:Zc3h14	UTSW	12	98785399	missense	probably damaging	1.00
R4353:Zc3h14	UTSW	12	98763960	missense	possibly damaging	0.70
R4360:Zc3h14	UTSW	12	98780197	missense	probably benign	0.09
R4814:Zc3h14	UTSW	12	98752848	missense	probably damaging	1.00
R4815:Zc3h14	UTSW	12	98752848	missense	probably damaging	1.00
R4817:Zc3h14	UTSW	12	98752848	missense	probably damaging	1.00
R4947:Zc3h14	UTSW	12	98759824	missense	probably benign
R5077:Zc3h14	UTSW	12	98757206	critical splice donor site	probably null
R5431:Zc3h14	UTSW	12	98780065	missense	possibly damaging	0.94
R5783:Zc3h14	UTSW	12	98757175	missense	probably damaging	0.99
R5850:Zc3h14	UTSW	12	98779155	missense	probably damaging	0.97
R6034:Zc3h14	UTSW	12	98771373	missense	probably benign	0.01
R6034:Zc3h14	UTSW	12	98771373	missense	probably benign	0.01
R6291:Zc3h14	UTSW	12	98759828	missense	probably damaging	1.00
R6338:Zc3h14	UTSW	12	98758590	missense	possibly damaging	0.94
R6595:Zc3h14	UTSW	12	98757026	missense	probably damaging	0.98
R6737:Zc3h14	UTSW	12	98785046	missense	probably damaging	1.00
R6932:Zc3h14	UTSW	12	98771077	intron	probably benign
R7074:Zc3h14	UTSW	12	98758600	missense	possibly damaging	0.96
R7204:Zc3h14	UTSW	12	98771356	missense	probably damaging	1.00
R7237:Zc3h14	UTSW	12	98780149	missense	probably benign	0.34
R7267:Zc3h14	UTSW	12	98785729	missense	probably damaging	1.00
R8753:Zc3h14	UTSW	12	98758572	missense	probably benign	0.12
R9169:Zc3h14	UTSW	12	98779246	missense	probably damaging	1.00
R9610:Zc3h14	UTSW	12	98771404	missense	possibly damaging	0.92
RF020:Zc3h14	UTSW	12	98780282	critical splice donor site	probably null
RF024:Zc3h14	UTSW	12	98758861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCACAGAGTATTGAAGCCAGAG -3'
(R):5'- CTGGTGACGACACTGACAATCAGAG -3'

Sequencing Primer
(F):5'- ttgaaaaacctgagctatctttcc -3'
(R):5'- TCAGAGTGAACAATGCTCAAATC -3'

Posted On

2014-04-13