Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02734:Zc3h4'

305579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h4

Ensembl Gene

ENSMUSG00000059273

Gene Name

zinc finger CCCH-type containing 4

Synonyms

Kiaa1064-hp, Bwq1, LOC330474

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02734

Quality Score

Status

Chromosome

Chromosomal Location

16134835-16171621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16157849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 353 (I353T)

Ref Sequence

ENSEMBL: ENSMUSP00000147665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098789] [ENSMUST00000209289]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000098789
AA Change: I345T

SMART Domains

Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: I345T

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	35	97	N/A	INTRINSIC
low complexity region	144	170	N/A	INTRINSIC
low complexity region	184	247	N/A	INTRINSIC
low complexity region	264	324	N/A	INTRINSIC
ZnF_C3H1	341	366	1.95e-3	SMART
ZnF_C3H1	370	395	6.17e-6	SMART
ZnF_C3H1	396	419	3.38e-1	SMART
low complexity region	433	451	N/A	INTRINSIC
low complexity region	456	486	N/A	INTRINSIC
low complexity region	489	505	N/A	INTRINSIC
low complexity region	552	641	N/A	INTRINSIC
low complexity region	705	720	N/A	INTRINSIC
coiled coil region	729	760	N/A	INTRINSIC
internal_repeat_2	767	822	3.38e-5	PROSPERO
low complexity region	837	850	N/A	INTRINSIC
low complexity region	863	880	N/A	INTRINSIC
low complexity region	881	892	N/A	INTRINSIC
internal_repeat_2	986	1037	3.38e-5	PROSPERO
low complexity region	1049	1072	N/A	INTRINSIC
low complexity region	1077	1097	N/A	INTRINSIC
low complexity region	1175	1195	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000209289
AA Change: I353T

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,506,349 (GRCm39)	D114V	probably damaging	Het
Adam26a	A	G	8: 44,022,812 (GRCm39)	V226A	probably benign	Het
Anapc4	T	A	5: 53,018,633 (GRCm39)	V525E	probably benign	Het
Apip	C	T	2: 102,919,889 (GRCm39)		probably benign	Het
Bak1	A	G	17: 27,239,927 (GRCm39)	V203A	possibly damaging	Het
Bche	T	A	3: 73,609,409 (GRCm39)	T6S	probably benign	Het
Ceacam5	T	A	7: 17,484,737 (GRCm39)	V493D	probably damaging	Het
Cstf3	T	A	2: 104,439,539 (GRCm39)		probably benign	Het
Fam227a	A	T	15: 79,502,042 (GRCm39)		probably benign	Het
Fbln1	G	T	15: 85,111,182 (GRCm39)	C112F	probably damaging	Het
Gm12695	G	A	4: 96,612,267 (GRCm39)	R499*	probably null	Het
Igdcc4	T	G	9: 65,038,738 (GRCm39)	S887A	possibly damaging	Het
Itgb4	G	T	11: 115,896,792 (GRCm39)	R1470L	probably benign	Het
Kif1a	T	C	1: 92,990,280 (GRCm39)	E480G	probably damaging	Het
Mgam	T	A	6: 40,639,628 (GRCm39)	F497L	probably damaging	Het
Or4a74	T	C	2: 89,440,303 (GRCm39)	I48V	probably benign	Het
Or5ar1	T	G	2: 85,671,883 (GRCm39)	D84A	possibly damaging	Het
Or5t5	T	C	2: 86,616,712 (GRCm39)	Y213H	probably benign	Het
Prl7a2	A	T	13: 27,843,190 (GRCm39)	D204E	probably benign	Het
Shd	A	G	17: 56,278,632 (GRCm39)	Y65C	probably damaging	Het
Slc25a39	A	G	11: 102,295,349 (GRCm39)	V207A	probably benign	Het
Sptlc2	T	C	12: 87,402,444 (GRCm39)	T161A	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tacc2	G	T	7: 130,227,829 (GRCm39)	V1505L	probably damaging	Het
Taf6	T	C	5: 138,182,118 (GRCm39)	K76E	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het

Other mutations in Zc3h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Zc3h4	APN	7	16,156,159 (GRCm39)	missense	unknown
IGL00923:Zc3h4	APN	7	16,163,617 (GRCm39)	missense	unknown
IGL01541:Zc3h4	APN	7	16,168,257 (GRCm39)	missense	unknown
IGL02115:Zc3h4	APN	7	16,159,708 (GRCm39)	missense	unknown
IGL02303:Zc3h4	APN	7	16,168,002 (GRCm39)	missense	unknown
IGL02336:Zc3h4	APN	7	16,159,702 (GRCm39)	missense	unknown
IGL02736:Zc3h4	APN	7	16,151,308 (GRCm39)	nonsense	probably null
BB008:Zc3h4	UTSW	7	16,166,909 (GRCm39)	missense	unknown
BB018:Zc3h4	UTSW	7	16,166,909 (GRCm39)	missense	unknown
R0032:Zc3h4	UTSW	7	16,168,565 (GRCm39)	missense	unknown
R0032:Zc3h4	UTSW	7	16,168,565 (GRCm39)	missense	unknown
R0220:Zc3h4	UTSW	7	16,163,198 (GRCm39)	missense	unknown
R0336:Zc3h4	UTSW	7	16,169,103 (GRCm39)	missense	unknown
R0416:Zc3h4	UTSW	7	16,154,200 (GRCm39)	missense	probably damaging	1.00
R0666:Zc3h4	UTSW	7	16,168,697 (GRCm39)	missense	unknown
R0864:Zc3h4	UTSW	7	16,154,104 (GRCm39)	missense	probably damaging	0.99
R1068:Zc3h4	UTSW	7	16,163,161 (GRCm39)	missense	unknown
R1145:Zc3h4	UTSW	7	16,150,838 (GRCm39)	missense	possibly damaging	0.53
R1145:Zc3h4	UTSW	7	16,150,838 (GRCm39)	missense	possibly damaging	0.53
R1472:Zc3h4	UTSW	7	16,168,695 (GRCm39)	missense	unknown
R1665:Zc3h4	UTSW	7	16,163,505 (GRCm39)	missense	unknown
R2087:Zc3h4	UTSW	7	16,150,865 (GRCm39)	missense	possibly damaging	0.72
R2182:Zc3h4	UTSW	7	16,156,441 (GRCm39)	missense	unknown
R2508:Zc3h4	UTSW	7	16,168,264 (GRCm39)	missense	unknown
R3037:Zc3h4	UTSW	7	16,155,410 (GRCm39)	missense	unknown
R4439:Zc3h4	UTSW	7	16,163,036 (GRCm39)	missense	unknown
R4576:Zc3h4	UTSW	7	16,168,579 (GRCm39)	missense	unknown
R5030:Zc3h4	UTSW	7	16,156,155 (GRCm39)	missense	unknown
R5160:Zc3h4	UTSW	7	16,168,573 (GRCm39)	missense	unknown
R5270:Zc3h4	UTSW	7	16,168,440 (GRCm39)	missense	unknown
R5490:Zc3h4	UTSW	7	16,162,930 (GRCm39)	missense	unknown
R5519:Zc3h4	UTSW	7	16,169,157 (GRCm39)	missense	unknown
R5770:Zc3h4	UTSW	7	16,163,536 (GRCm39)	missense	unknown
R7067:Zc3h4	UTSW	7	16,162,976 (GRCm39)	nonsense	probably null
R7234:Zc3h4	UTSW	7	16,162,961 (GRCm39)	missense	unknown
R7316:Zc3h4	UTSW	7	16,169,260 (GRCm39)	missense	unknown
R7771:Zc3h4	UTSW	7	16,163,824 (GRCm39)	missense	unknown
R7852:Zc3h4	UTSW	7	16,156,392 (GRCm39)	missense	unknown
R7922:Zc3h4	UTSW	7	16,159,647 (GRCm39)	missense	unknown
R7931:Zc3h4	UTSW	7	16,166,909 (GRCm39)	missense	unknown
R7965:Zc3h4	UTSW	7	16,163,770 (GRCm39)	missense	unknown
R8827:Zc3h4	UTSW	7	16,163,123 (GRCm39)	missense	unknown
R8859:Zc3h4	UTSW	7	16,168,939 (GRCm39)	missense	unknown
R9457:Zc3h4	UTSW	7	16,168,675 (GRCm39)	missense	unknown
R9562:Zc3h4	UTSW	7	16,168,891 (GRCm39)	missense	unknown
R9609:Zc3h4	UTSW	7	16,150,751 (GRCm39)	missense	unknown
R9721:Zc3h4	UTSW	7	16,168,770 (GRCm39)	missense	unknown
RF001:Zc3h4	UTSW	7	16,163,612 (GRCm39)	small insertion	probably benign
RF039:Zc3h4	UTSW	7	16,163,543 (GRCm39)	small deletion	probably benign
X0064:Zc3h4	UTSW	7	16,156,441 (GRCm39)	missense	unknown

Posted On

2015-04-16