Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Zc3h14'

92722

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h14

Ensembl Gene

ENSMUSG00000021012

Gene Name

zinc finger CCCH type containing 14

Synonyms

1700016A15Rik, 1010001P15Rik, 2700069A02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

98746964-98787753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98779186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 478 (I478R)

Ref Sequence

ENSEMBL: ENSMUSP00000105732 (fasta)

Gene Model

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

AlphaFold

Q8BJ05

Predicted Effect

probably benign
Transcript: ENSMUST00000021399

SMART Domains

Protein: ENSMUSP00000021399
Gene: ENSMUSG00000021012

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

probably benign
Transcript: ENSMUST00000057000

SMART Domains

Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012

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

SMART Domains

Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012

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

possibly damaging
Transcript: ENSMUST00000110105
AA Change: I478R

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: I478R

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: ENSMUST00000222146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222461

Predicted Effect

unknown
Transcript: ENSMUST00000223451
AA Change: I149R

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814		probably benign	Het
Aoc1	A	G	6: 48,906,531	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616		probably null	Het
Fat4	T	C	3: 38,951,032	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345	K472*	probably null	Het
Npat	T	A	9: 53,556,571	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372		probably null	Het
Ppfia1	A	G	7: 144,481,719	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738		probably benign	Het
Unc80	T	C	1: 66,551,054		probably null	Het
Vldlr	G	T	19: 27,243,773	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686	R35*	probably null	Het
Zfp366	A	G	13: 99,228,412	H27R	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
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
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

Posted On

2013-12-09