Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Zc3h14'

383520

Institutional Source

Beutler Lab

Gene Symbol

Zc3h14

Ensembl Gene

ENSMUSG00000021012

Gene Name

zinc finger CCCH type containing 14

Synonyms

1700016A15Rik, 1010001P15Rik, 2700069A02Rik

MMRRC Submission

042544-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4947 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

98746964-98787753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98759824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000105732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057000] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532] [ENSMUST00000223083]

AlphaFold

Q8BJ05

Predicted Effect

probably benign
Transcript: ENSMUST00000057000
AA Change: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: T323A

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: ENSMUST00000110104
AA Change: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: T323A

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 benign
Transcript: ENSMUST00000110105
AA Change: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: T323A

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

probably benign
Transcript: ENSMUST00000221532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222913

Predicted Effect

probably benign
Transcript: ENSMUST00000223083

Predicted Effect

probably benign
Transcript: ENSMUST00000223451

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,614	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,764,800	Q36L	possibly damaging	Het
Als2cr12	T	A	1: 58,676,539	T173S	probably benign	Het
BC117090	T	C	16: 36,321,765	Y83C	probably damaging	Het
Bcl2a1a	G	A	9: 88,957,282	E78K	probably damaging	Het
C130026I21Rik	G	A	1: 85,112,482	A124V	probably damaging	Het
Cdk5rap2	A	G	4: 70,228,592		probably null	Het
Copg1	C	A	6: 87,903,473		probably benign	Het
Crb2	C	T	2: 37,795,331		probably benign	Het
Ctbp2	C	A	7: 132,999,283	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,851,570	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,186,196	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,148,543	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,372	V1078E	probably benign	Het
Donson	A	T	16: 91,682,551	D366E	probably damaging	Het
Evpl	T	C	11: 116,223,375	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 28,089,812	K601R	probably benign	Het
Fez1	A	C	9: 36,868,875	I323L	probably damaging	Het
Fmnl2	T	G	2: 53,073,710	S285A	probably benign	Het
Frem1	A	G	4: 82,966,134	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,682,148		probably benign	Het
Gm14226	A	T	2: 155,024,959	T279S	probably benign	Het
Gm16332	G	A	1: 139,865,992		noncoding transcript	Het
Gm21718	T	A	14: 51,315,959		noncoding transcript	Het
Gm9866	A	T	12: 27,160,228		noncoding transcript	Het
Gm9871	A	G	6: 101,796,773		noncoding transcript	Het
Grm1	A	G	10: 10,782,633	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,591,956	I128V	probably null	Het
H2-Q3	T	A	17: 35,359,732		noncoding transcript	Het
Ibtk	T	C	9: 85,710,412	T998A	probably benign	Het
Ifi204	A	G	1: 173,755,750	S301P	probably damaging	Het
Kcnn1	C	A	8: 70,844,429	A545S	probably benign	Het
Keap1	T	G	9: 21,237,553	S53R	probably benign	Het
Lat	A	G	7: 126,367,938	V138A	probably benign	Het
Lrpprc	A	T	17: 84,771,538	N249K	probably benign	Het
Lrrc40	A	G	3: 158,063,835	I557V	probably benign	Het
Maml3	A	G	3: 51,856,539	F335L	probably benign	Het
Mcmbp	A	T	7: 128,712,696	D265E	probably damaging	Het
Me3	A	G	7: 89,633,014	H35R	probably benign	Het
Mif4gd	C	A	11: 115,609,637	V32L	probably benign	Het
Mlana	T	C	19: 29,700,151	S18P	probably damaging	Het
Mpnd	T	A	17: 56,010,268		probably benign	Het
Ms4a4b	T	C	19: 11,454,737	V74A	probably benign	Het
Mta2	T	C	19: 8,946,291	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,123,048	M150V	probably damaging	Het
Nbr1	T	C	11: 101,575,077	V487A	probably benign	Het
Nos3	G	A	5: 24,377,855	C660Y	probably damaging	Het
Ocln	T	C	13: 100,539,715	D90G	probably damaging	Het
Olfr109	T	C	17: 37,466,743	V179A	probably damaging	Het
Olfr186	A	G	16: 59,027,445	L154P	probably damaging	Het
Olfr376	C	T	11: 73,375,417	R223*	probably null	Het
Olfr669	A	G	7: 104,938,742	D72G	possibly damaging	Het
Pcdh7	A	G	5: 57,721,916	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,487,961	F166L	probably benign	Het
Pid1	A	T	1: 84,038,260	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,482,464	D187E	probably benign	Het
Prokr2	T	C	2: 132,373,653	D135G	probably damaging	Het
Rnf141	T	C	7: 110,825,320	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,523,045	E254G	probably damaging	Het
Skint11	T	C	4: 114,191,510	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,131,452	T109A	probably benign	Het
Sntg1	C	A	1: 8,782,798	V43L	probably damaging	Het
Strn	T	C	17: 78,661,779	D398G	probably damaging	Het
Tacc2	A	T	7: 130,625,899	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,141,566	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,138,944		probably benign	Het
Thbs3	T	C	3: 89,226,431	Y897H	probably damaging	Het
Timm50	G	T	7: 28,310,044		probably benign	Het
Tmem132a	T	C	19: 10,866,934	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Unc93b1	C	A	19: 3,935,871	T90K	probably benign	Het
Upk3bl	T	C	5: 136,057,245		probably benign	Het
Vmn2r112	T	A	17: 22,602,879	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,400,495	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,194,698	L786R	probably damaging	Het
Zfp532	T	C	18: 65,625,066	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,596,672	N47S	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
R1530:Zc3h14	UTSW	12	98785003	missense	probably damaging	1.00
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
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'- TCCCTGTTCTGGCCCAAAAG -3'
(R):5'- TACCATGAGCATGCACAGCC -3'

Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- CATGCACAGCCCCCAGG -3'

Posted On

2016-04-27