Mutagenetix > Incidental Mutation

Incidental Mutation 'R9562:Zc3h4'

721081

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 #

R9562 (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 G at 16168891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 1075 (P1075R)

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: P1075R

SMART Domains

Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: P1075R

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: P1000R

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,371,397 (GRCm39)	P1842Q	probably damaging	Het
Aco2	G	A	15: 81,773,635 (GRCm39)	R58Q	probably null	Het
Acvr1	T	C	2: 58,338,385 (GRCm39)	K446E	probably damaging	Het
Adam39	T	C	8: 41,277,755 (GRCm39)	Y49H	probably benign	Het
Afg3l2	C	T	18: 67,554,365 (GRCm39)	V446M	probably damaging	Het
Aire	A	G	10: 77,871,579 (GRCm39)	V397A	probably benign	Het
Ankdd1a	C	T	9: 65,411,452 (GRCm39)	A352T	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,909 (GRCm39)	M303T	probably benign	Het
Arfip2	T	C	7: 105,286,079 (GRCm39)	D270G	possibly damaging	Het
Arl4c	A	G	1: 88,629,134 (GRCm39)	C85R	probably damaging	Het
Arpp21	A	C	9: 111,956,354 (GRCm39)	V541G	possibly damaging	Het
Atp2a3	T	A	11: 72,873,578 (GRCm39)	M817K	probably damaging	Het
Bahcc1	C	T	11: 120,150,035 (GRCm39)	H106Y	possibly damaging	Het
Bcl9l	A	G	9: 44,412,076 (GRCm39)	S21G	possibly damaging	Het
C7	T	A	15: 5,086,579 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,272,725 (GRCm39)	D220G	possibly damaging	Het
Cacna1e	T	A	1: 154,283,486 (GRCm39)	D1960V	probably benign	Het
Casp4	A	T	9: 5,324,832 (GRCm39)	T215S	probably damaging	Het
Ccdc187	T	C	2: 26,183,698 (GRCm39)	S101G	possibly damaging	Het
Cdk12	A	G	11: 98,140,628 (GRCm39)	N1290D	unknown	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Col5a3	G	A	9: 20,714,429 (GRCm39)	A381V	unknown	Het
Cspg4b	T	C	13: 113,504,574 (GRCm39)	I1901T		Het
Dcpp2	A	G	17: 24,119,453 (GRCm39)	E89G	probably damaging	Het
Dhx57	G	T	17: 80,561,817 (GRCm39)	A899E	probably damaging	Het
Dnaaf1	T	C	8: 120,309,392 (GRCm39)	I160T	probably damaging	Het
Dnah1	C	A	14: 30,986,394 (GRCm39)	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,597,281 (GRCm39)	R3547S	possibly damaging	Het
Dnah3	A	G	7: 119,610,114 (GRCm39)	V1774A	probably benign	Het
Dop1a	G	A	9: 86,424,811 (GRCm39)	R2085Q	probably damaging	Het
Duox1	T	C	2: 122,151,203 (GRCm39)	Y293H	probably damaging	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Elp1	G	T	4: 56,772,521 (GRCm39)	P867T	probably benign	Het
Epas1	T	A	17: 87,112,667 (GRCm39)	D88E	probably damaging	Het
Epdr1	A	G	13: 19,778,821 (GRCm39)	F92L	possibly damaging	Het
Ercc6	T	C	14: 32,296,924 (GRCm39)	W1305R	probably damaging	Het
Etv6	A	G	6: 134,225,672 (GRCm39)	N212S	probably benign	Het
Fam20b	A	T	1: 156,530,010 (GRCm39)	Y141*	probably null	Het
Fancm	A	G	12: 65,168,494 (GRCm39)	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,734,722 (GRCm39)	N183K	probably damaging	Het
Fer1l6	A	G	15: 58,490,370 (GRCm39)	D976G	possibly damaging	Het
Fgb	T	C	3: 82,952,409 (GRCm39)		probably null	Het
Fhod1	A	T	8: 106,074,422 (GRCm39)	Y22N	unknown	Het
Foxl3	C	A	5: 138,807,213 (GRCm39)	Q164K	probably benign	Het
Galm	C	T	17: 80,490,859 (GRCm39)	Q166*	probably null	Het
Gbe1	A	T	16: 70,198,664 (GRCm39)	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,293,180 (GRCm39)	Y369F	probably damaging	Het
Gdap2	T	C	3: 100,099,006 (GRCm39)	I366T	possibly damaging	Het
Gm14295	T	C	2: 176,499,162 (GRCm39)	V4A	probably benign	Het
Gm32742	T	A	9: 51,068,327 (GRCm39)	Y249F	probably benign	Het
Gm40460	A	T	7: 141,794,701 (GRCm39)	C39S	unknown	Het
Gm6370	T	A	5: 146,429,281 (GRCm39)	C120*	probably null	Het
Harbi1	T	A	2: 91,542,698 (GRCm39)	L53*	probably null	Het
Herc3	A	G	6: 58,835,999 (GRCm39)	N280S	probably null	Het
Hipk2	T	A	6: 38,724,390 (GRCm39)	R447W	probably damaging	Het
Hydin	A	G	8: 111,312,786 (GRCm39)	I4176V	probably benign	Het
Ifi211	A	T	1: 173,733,052 (GRCm39)	I203N	probably benign	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Kcng1	T	A	2: 168,104,797 (GRCm39)	I350F	probably damaging	Het
Kif21b	A	T	1: 136,077,090 (GRCm39)	I371F	probably damaging	Het
Klrc1	A	G	6: 129,655,746 (GRCm39)	F43S	probably damaging	Het
Krtap6-2	A	G	16: 89,216,722 (GRCm39)	S82P	unknown	Het
Lamb1	T	A	12: 31,322,492 (GRCm39)	M186K	probably damaging	Het
Lrig2	T	C	3: 104,375,924 (GRCm39)	K451E	possibly damaging	Het
Lrrc15	G	A	16: 30,093,016 (GRCm39)	L108F	probably damaging	Het
Mark3	A	G	12: 111,570,960 (GRCm39)	I87V	probably damaging	Het
Mlh1	T	C	9: 111,060,013 (GRCm39)	K622E		Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Msantd5f4	G	T	4: 73,557,190 (GRCm39)	V8F	probably damaging	Het
Mtmr4	C	T	11: 87,493,241 (GRCm39)	R225C	probably damaging	Het
Nfatc1	A	G	18: 80,678,916 (GRCm39)	L824P	probably damaging	Het
Nlrp4f	A	T	13: 65,347,053 (GRCm39)	D46E	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or10h5	G	T	17: 33,434,415 (GRCm39)	T301N	probably benign	Het
Or13n4	A	C	7: 106,423,020 (GRCm39)	F238V	probably damaging	Het
Or1l4	G	T	2: 37,091,575 (GRCm39)	M107I	probably benign	Het
Or2w25	T	A	11: 59,504,580 (GRCm39)	N263K	probably damaging	Het
Or6z7	G	C	7: 6,483,243 (GRCm39)	A304G	probably null	Het
Or7e173	T	A	9: 19,939,045 (GRCm39)	Y63F	probably damaging	Het
Or8b1	G	T	9: 38,400,092 (GRCm39)	A256S	possibly damaging	Het
Otulin	A	G	15: 27,608,812 (GRCm39)	Y244H	probably damaging	Het
Pabpc4	T	C	4: 123,180,653 (GRCm39)	I125T	probably damaging	Het
Parp14	A	G	16: 35,677,775 (GRCm39)	I731T	probably benign	Het
Parp8	T	C	13: 117,029,631 (GRCm39)	T531A	probably benign	Het
Parvg	G	T	15: 84,213,065 (GRCm39)	V49L	probably benign	Het
Pcdha12	T	C	18: 37,155,284 (GRCm39)	S668P	probably damaging	Het
Pcdhb9	A	C	18: 37,534,665 (GRCm39)	N220H	probably benign	Het
Pcdhga4	T	G	18: 37,819,527 (GRCm39)	S359A	probably benign	Het
Pi4k2b	T	A	5: 52,908,799 (GRCm39)	S208R	probably damaging	Het
Plxnb2	T	C	15: 89,050,136 (GRCm39)	Y487C	probably damaging	Het
Pm20d1	G	A	1: 131,730,501 (GRCm39)	V252I	probably damaging	Het
Pxdc1	T	A	13: 34,836,258 (GRCm39)	H54L	probably damaging	Het
Rag1	A	T	2: 101,473,327 (GRCm39)	V605E	probably damaging	Het
Rasgrf2	A	T	13: 92,034,469 (GRCm39)		probably null	Het
Relch	T	C	1: 105,591,876 (GRCm39)	V15A	probably damaging	Het
Rflnb	T	A	11: 75,912,951 (GRCm39)	T146S	probably damaging	Het
Rfx5	T	A	3: 94,866,639 (GRCm39)	L646Q	unknown	Het
Rnf43	A	G	11: 87,618,891 (GRCm39)	T81A	probably benign	Het
Ros1	T	C	10: 51,943,170 (GRCm39)	D2048G	probably damaging	Het
Rpl13a-ps1	T	A	19: 50,018,612 (GRCm39)	K188I	possibly damaging	Het
Rpl24	T	A	16: 55,790,509 (GRCm39)	S122T	probably benign	Het
Ryr2	G	A	13: 11,760,104 (GRCm39)	T1549M	probably damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sec23a	A	T	12: 59,048,817 (GRCm39)	F131I	possibly damaging	Het
Secisbp2	T	C	13: 51,837,320 (GRCm39)	I827T	probably damaging	Het
Serpinb6d	A	G	13: 33,854,756 (GRCm39)	R244G	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Snx17	C	A	5: 31,355,088 (GRCm39)	Q368K	probably damaging	Het
Stac	T	A	9: 111,401,411 (GRCm39)	E345V	probably benign	Het
Stx4a	A	G	7: 127,445,375 (GRCm39)	N164S	possibly damaging	Het
Tasor	T	C	14: 27,201,766 (GRCm39)		probably null	Het
Tbcb	A	T	7: 29,930,549 (GRCm39)		probably null	Het
Tecpr2	T	C	12: 110,914,141 (GRCm39)	S1151P	possibly damaging	Het
Timm50	A	G	7: 28,007,069 (GRCm39)	F202S	possibly damaging	Het
Tle2	A	G	10: 81,417,567 (GRCm39)	D244G	probably benign	Het
Tlr4	G	A	4: 66,759,522 (GRCm39)	V772I	possibly damaging	Het
Tmem214	G	A	5: 31,027,043 (GRCm39)	W11*	probably null	Het
Tmem241	A	T	18: 12,176,356 (GRCm39)	L227*	probably null	Het
Top2b	A	C	14: 16,365,718 (GRCm38)	T14P	probably benign	Het
Trim44	T	C	2: 102,187,827 (GRCm39)	T309A	probably benign	Het
Trps1	A	C	15: 50,524,657 (GRCm39)	I1091S	probably damaging	Het
Tspan2	C	A	3: 102,672,583 (GRCm39)	T200K	probably damaging	Het
Tuba8	A	G	6: 121,200,063 (GRCm39)	N249S	probably benign	Het
Vmn1r189	A	G	13: 22,286,426 (GRCm39)	L137P	probably damaging	Het
Vmn2r29	A	T	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Vmn2r52	A	C	7: 9,893,476 (GRCm39)	D554E	probably benign	Het
Zfp599	A	G	9: 22,160,999 (GRCm39)	S389P	probably damaging	Het
Zfp777	A	T	6: 48,021,580 (GRCm39)	V14D	possibly damaging	Het
Zswim8	C	T	14: 20,762,150 (GRCm39)	Q262*	probably null	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
R9457:Zc3h4	UTSW	7	16,168,675 (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'- CTGGTCAGAGTGAAAAGCCCAG -3'
(R):5'- GGGCAGACTTTCGGACAAAC -3'

Sequencing Primer
(F):5'- TGAAAAGCCCAGTGATCCG -3'
(R):5'- ACAAACGGAGGCTCTTTTGC -3'

Posted On

2022-08-09