Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Zc3h4'

714647

Institutional Source

Beutler Lab

Gene Symbol

Zc3h4

Ensembl Gene

ENSMUSG00000059273

Gene Name

zinc finger CCCH-type containing 4

Synonyms

Kiaa1064-hp, Bwq1, LOC330474

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16134835-16171621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16168675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1003 (S1003F)

Ref Sequence

ENSEMBL: ENSMUSP00000096386 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000098789
AA Change: S1003F

SMART Domains

Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: S1003F

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: S928F

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,993,650 (GRCm39)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,835,927 (GRCm39)	C1335S	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Scrib	T	C	15: 75,939,148 (GRCm39)	D146G	probably damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,829,884 (GRCm39)	A590V	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Smad9	T	A	3: 54,696,756 (GRCm39)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	probably damaging	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
IGL02734:Zc3h4	APN	7	16,157,849 (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
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

Predicted Primers

PCR Primer
(F):5'- TGGAACCCTGAAGACCTGATC -3'
(R):5'- TGATACCACTCAGCACACTG -3'

Sequencing Primer
(F):5'- TGAAGACCTGATCCCCCTG -3'
(R):5'- AGCACTCGGGGGTCATAG -3'

Posted On

2022-06-15