Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Zfp335'

502025

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164891882-164911757 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 164895098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000041643] [ENSMUST00000183830]

AlphaFold

A2A5K6

Predicted Effect

probably null
Transcript: ENSMUST00000041361

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
ZnF_C2H2	248	271	4.24e-4	SMART
low complexity region	275	282	N/A	INTRINSIC
low complexity region	300	321	N/A	INTRINSIC
low complexity region	340	365	N/A	INTRINSIC
low complexity region	435	445	N/A	INTRINSIC
ZnF_C2H2	466	488	2.17e-1	SMART
ZnF_C2H2	496	518	1.56e-2	SMART
ZnF_C2H2	524	546	8.81e-2	SMART
ZnF_C2H2	563	585	2.79e-4	SMART
ZnF_C2H2	591	613	2.53e-2	SMART
ZnF_C2H2	622	644	6.78e-3	SMART
ZnF_C2H2	650	673	8.22e-2	SMART
ZnF_C2H2	679	702	3.29e-1	SMART
low complexity region	711	726	N/A	INTRINSIC
internal_repeat_3	770	937	7.16e-5	PROSPERO
low complexity region	1005	1015	N/A	INTRINSIC
ZnF_C2H2	1019	1041	2.95e-3	SMART
ZnF_C2H2	1047	1069	5.5e-3	SMART
ZnF_C2H2	1075	1097	1.58e-3	SMART
ZnF_C2H2	1103	1126	3.34e-2	SMART
low complexity region	1288	1305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041643

SMART Domains

Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849

Domain	Start	End	E-Value	Type
WW	44	77	4.34e-4	SMART
low complexity region	132	148	N/A	INTRINSIC
Pfam:PCIF1_WW	445	620	7.1e-74	PFAM
low complexity region	675	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183830

SMART Domains

Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
ZnF_C2H2	248	271	4.24e-4	SMART
low complexity region	275	282	N/A	INTRINSIC
low complexity region	300	321	N/A	INTRINSIC
low complexity region	340	365	N/A	INTRINSIC
low complexity region	435	445	N/A	INTRINSIC
ZnF_C2H2	466	488	2.17e-1	SMART
ZnF_C2H2	496	518	1.56e-2	SMART
ZnF_C2H2	524	546	8.81e-2	SMART
ZnF_C2H2	563	585	2.79e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,878 (GRCm38)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,293,638 (GRCm38)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,371,615 (GRCm38)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,877 (GRCm38)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,698,116 (GRCm38)	K376R	probably benign	Het
Anxa5	A	G	3: 36,450,691 (GRCm38)	S241P	probably damaging	Het
Aox3	A	T	1: 58,169,859 (GRCm38)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,319,392 (GRCm38)	M415T	probably benign	Het
Aspa	T	A	11: 73,308,752 (GRCm38)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,388,782 (GRCm38)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,946,221 (GRCm38)	V719E	possibly damaging	Het
Bltp2	C	A	11: 78,271,384 (GRCm38)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,105,836 (GRCm38)	V1017G	probably damaging	Het
Chrna4	G	T	2: 181,029,442 (GRCm38)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,786,939 (GRCm38)	V329D	probably damaging	Het
Chst14	T	C	2: 118,927,733 (GRCm38)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,100,809 (GRCm38)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,482,382 (GRCm38)	S343A	probably benign	Het
Dapl1	C	A	2: 59,484,713 (GRCm38)	A2E	probably damaging	Het
Dlec1	G	T	9: 119,121,923 (GRCm38)	R519L	probably damaging	Het
Dmgdh	T	C	13: 93,752,326 (GRCm38)	V824A	probably damaging	Het
Dmgdh	T	A	13: 93,708,743 (GRCm38)	F415I	possibly damaging	Het
Dnah11	T	G	12: 117,928,456 (GRCm38)	T3661P	probably benign	Het
Dnah3	A	G	7: 120,030,031 (GRCm38)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 151,978,126 (GRCm38)		probably benign	Het
Dot1l	A	G	10: 80,786,095 (GRCm38)	E527G	probably damaging	Het
Drc7	T	C	8: 95,075,051 (GRCm38)	L680P	probably damaging	Het
Dysf	T	C	6: 84,106,862 (GRCm38)	Y742H	probably benign	Het
Ece1	A	G	4: 137,961,647 (GRCm38)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,354,222 (GRCm38)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,067,901 (GRCm38)	T247M	probably damaging	Het
Exoc2	T	C	13: 30,900,829 (GRCm38)	K383R	probably benign	Het
Fam227b	A	T	2: 126,121,052 (GRCm38)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,985,673 (GRCm38)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,955,528 (GRCm38)		probably benign	Het
Hgfac	T	A	5: 35,041,629 (GRCm38)	C11*	probably null	Het
Hmcn1	C	A	1: 150,663,909 (GRCm38)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,767,097 (GRCm38)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,685,500 (GRCm38)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,407,848 (GRCm38)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,027,577 (GRCm38)	S59P	probably benign	Het
Kctd19	G	A	8: 105,396,450 (GRCm38)	H111Y	probably damaging	Het
Kif1a	T	C	1: 93,024,648 (GRCm38)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,714,094 (GRCm38)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,789,355 (GRCm38)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,497,658 (GRCm38)	Q2314K	unknown	Het
LTO1	G	T	7: 144,915,286 (GRCm38)	V17L	possibly damaging	Het
Lurap1	G	T	4: 116,137,402 (GRCm38)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,580,803 (GRCm38)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 119,515,602 (GRCm38)	L894V	probably benign	Het
Mefv	G	A	16: 3,708,042 (GRCm38)	S787F	possibly damaging	Het
Miip	T	A	4: 147,862,335 (GRCm38)	I289F	probably damaging	Het
Mogat2	T	A	7: 99,223,513 (GRCm38)	I155F	possibly damaging	Het
Mpp3	C	A	11: 102,011,689 (GRCm38)		probably null	Het
Mrrf	A	G	2: 36,177,221 (GRCm38)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,298,170 (GRCm38)	P485L	probably damaging	Het
Mtor	G	A	4: 148,537,435 (GRCm38)	R1896K	probably benign	Het
Myh3	C	T	11: 67,087,545 (GRCm38)	P453S	probably benign	Het
Nebl	A	G	2: 17,450,234 (GRCm38)	V112A	probably benign	Het
Nmnat2	G	A	1: 153,074,734 (GRCm38)	W55*	probably null	Het
Nprl3	A	G	11: 32,267,432 (GRCm38)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,591,101 (GRCm38)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,686,330 (GRCm38)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,743,112 (GRCm38)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm38)		probably benign	Het
Peg3	T	C	7: 6,709,571 (GRCm38)	E884G	probably damaging	Het
Pgpep1	G	A	8: 70,652,451 (GRCm38)	T53M	probably damaging	Het
Phf12	A	G	11: 78,009,515 (GRCm38)	T146A	probably benign	Het
Polr3k	C	G	2: 181,864,488 (GRCm38)	N10K	probably damaging	Het
Prickle4	C	A	17: 47,690,210 (GRCm38)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,732,435 (GRCm38)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,074 (GRCm38)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm38)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,758,861 (GRCm38)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,717,024 (GRCm38)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,625,906 (GRCm38)	R136L	probably damaging	Het
Scube2	A	T	7: 109,833,013 (GRCm38)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,079,722 (GRCm38)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 108,012,261 (GRCm38)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,720,077 (GRCm38)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,312,561 (GRCm38)	I62T	probably benign	Het
Sowaha	G	A	11: 53,479,087 (GRCm38)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,996,782 (GRCm38)	N869S	probably benign	Het
Stx18	C	A	5: 38,106,564 (GRCm38)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,770,686 (GRCm38)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,676,452 (GRCm38)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm38)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,985,041 (GRCm38)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,974,038 (GRCm38)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,886,909 (GRCm38)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,160,095 (GRCm38)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,671,074 (GRCm38)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,490,373 (GRCm38)		probably null	Het
Uggt2	C	T	14: 119,035,969 (GRCm38)		probably null	Het
Ulk4	T	A	9: 121,272,955 (GRCm38)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,333,037 (GRCm38)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,665,788 (GRCm38)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,267,544 (GRCm38)		probably null	Het
Ythdc2	T	A	18: 44,840,210 (GRCm38)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,625,440 (GRCm38)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm38)	C1087S	probably damaging	Het

Other mutations in Zfp335

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Zfp335	APN	2	164,892,382 (GRCm38)	missense	probably damaging	1.00
IGL00921:Zfp335	APN	2	164,894,776 (GRCm38)	missense	possibly damaging	0.51
IGL00980:Zfp335	APN	2	164,902,674 (GRCm38)	nonsense	probably null
IGL01145:Zfp335	APN	2	164,907,502 (GRCm38)	missense	probably benign	0.03
IGL01568:Zfp335	APN	2	164,894,788 (GRCm38)	missense	possibly damaging	0.70
IGL01612:Zfp335	APN	2	164,910,620 (GRCm38)	critical splice donor site	probably null
IGL02138:Zfp335	APN	2	164,893,804 (GRCm38)	missense	probably damaging	1.00
IGL02675:Zfp335	APN	2	164,910,689 (GRCm38)	missense	probably benign
IGL03206:Zfp335	APN	2	164,892,681 (GRCm38)	splice site	probably benign
IGL03269:Zfp335	APN	2	164,900,354 (GRCm38)	missense	probably damaging	1.00
IGL03306:Zfp335	APN	2	164,895,984 (GRCm38)	splice site	probably benign
FR4342:Zfp335	UTSW	2	164,907,477 (GRCm38)	small insertion	probably benign
FR4342:Zfp335	UTSW	2	164,907,465 (GRCm38)	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164,907,483 (GRCm38)	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164,907,477 (GRCm38)	small insertion	probably benign
FR4548:Zfp335	UTSW	2	164,907,472 (GRCm38)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,907,484 (GRCm38)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,907,475 (GRCm38)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,907,474 (GRCm38)	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164,907,478 (GRCm38)	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164,907,474 (GRCm38)	small insertion	probably benign
PIT4403001:Zfp335	UTSW	2	164,893,716 (GRCm38)	missense	possibly damaging	0.56
R0005:Zfp335	UTSW	2	164,909,302 (GRCm38)	missense	possibly damaging	0.91
R0101:Zfp335	UTSW	2	164,899,990 (GRCm38)	missense	probably damaging	1.00
R0196:Zfp335	UTSW	2	164,896,145 (GRCm38)	missense	possibly damaging	0.88
R0211:Zfp335	UTSW	2	164,907,692 (GRCm38)	missense	probably damaging	1.00
R0211:Zfp335	UTSW	2	164,907,692 (GRCm38)	missense	probably damaging	1.00
R0533:Zfp335	UTSW	2	164,907,922 (GRCm38)	nonsense	probably null
R0865:Zfp335	UTSW	2	164,899,495 (GRCm38)	splice site	probably null
R1023:Zfp335	UTSW	2	164,892,585 (GRCm38)	missense	possibly damaging	0.88
R1029:Zfp335	UTSW	2	164,892,678 (GRCm38)	splice site	probably benign
R1052:Zfp335	UTSW	2	164,907,468 (GRCm38)	small deletion	probably benign
R1106:Zfp335	UTSW	2	164,907,551 (GRCm38)	small deletion	probably benign
R1146:Zfp335	UTSW	2	164,896,123 (GRCm38)	missense	probably benign	0.01
R1146:Zfp335	UTSW	2	164,896,123 (GRCm38)	missense	probably benign	0.01
R1274:Zfp335	UTSW	2	164,907,468 (GRCm38)	small deletion	probably benign
R1386:Zfp335	UTSW	2	164,898,241 (GRCm38)	missense	probably benign	0.00
R1433:Zfp335	UTSW	2	164,899,456 (GRCm38)	missense	probably damaging	0.99
R1813:Zfp335	UTSW	2	164,892,605 (GRCm38)	missense	probably damaging	0.99
R1959:Zfp335	UTSW	2	164,894,802 (GRCm38)	missense	probably damaging	1.00
R2372:Zfp335	UTSW	2	164,895,039 (GRCm38)	missense	probably damaging	1.00
R3847:Zfp335	UTSW	2	164,900,106 (GRCm38)	splice site	probably null
R3937:Zfp335	UTSW	2	164,910,700 (GRCm38)	missense	probably damaging	1.00
R3946:Zfp335	UTSW	2	164,892,189 (GRCm38)	missense	probably damaging	1.00
R3979:Zfp335	UTSW	2	164,910,638 (GRCm38)	missense	probably benign	0.00
R4019:Zfp335	UTSW	2	164,901,460 (GRCm38)	missense	probably damaging	1.00
R4020:Zfp335	UTSW	2	164,901,460 (GRCm38)	missense	probably damaging	1.00
R4668:Zfp335	UTSW	2	164,900,286 (GRCm38)	missense	probably damaging	1.00
R5000:Zfp335	UTSW	2	164,894,668 (GRCm38)	missense	probably benign
R5038:Zfp335	UTSW	2	164,910,644 (GRCm38)	nonsense	probably null
R5245:Zfp335	UTSW	2	164,894,758 (GRCm38)	missense	probably benign
R5411:Zfp335	UTSW	2	164,902,245 (GRCm38)	missense	probably damaging	0.99
R5422:Zfp335	UTSW	2	164,907,730 (GRCm38)	missense	probably damaging	1.00
R5968:Zfp335	UTSW	2	164,892,394 (GRCm38)	missense	probably damaging	0.99
R6551:Zfp335	UTSW	2	164,909,365 (GRCm38)	missense	probably benign
R6927:Zfp335	UTSW	2	164,893,720 (GRCm38)	missense	probably damaging	1.00
R6943:Zfp335	UTSW	2	164,894,875 (GRCm38)	missense	possibly damaging	0.50
R6995:Zfp335	UTSW	2	164,893,290 (GRCm38)	nonsense	probably null
R7174:Zfp335	UTSW	2	164,902,503 (GRCm38)	missense	probably damaging	1.00
R7185:Zfp335	UTSW	2	164,893,244 (GRCm38)	critical splice donor site	probably null
R7296:Zfp335	UTSW	2	164,900,132 (GRCm38)	missense	probably damaging	0.99
R7322:Zfp335	UTSW	2	164,910,821 (GRCm38)	start codon destroyed	probably null	0.90
R7504:Zfp335	UTSW	2	164,909,418 (GRCm38)	missense	probably benign	0.27
R7560:Zfp335	UTSW	2	164,895,992 (GRCm38)	missense	probably damaging	1.00
R7637:Zfp335	UTSW	2	164,892,539 (GRCm38)	critical splice donor site	probably null
R8064:Zfp335	UTSW	2	164,907,700 (GRCm38)	missense	probably damaging	1.00
R8208:Zfp335	UTSW	2	164,893,616 (GRCm38)	critical splice acceptor site	probably null
R8228:Zfp335	UTSW	2	164,904,898 (GRCm38)	missense	probably damaging	1.00
R8271:Zfp335	UTSW	2	164,898,053 (GRCm38)	missense	probably damaging	0.98
R8688:Zfp335	UTSW	2	164,892,193 (GRCm38)	missense	probably damaging	1.00
R8803:Zfp335	UTSW	2	164,909,370 (GRCm38)	missense	probably benign	0.14
R9266:Zfp335	UTSW	2	164,896,087 (GRCm38)	missense	probably benign	0.33
R9352:Zfp335	UTSW	2	164,900,322 (GRCm38)	missense	probably damaging	0.99
R9487:Zfp335	UTSW	2	164,893,475 (GRCm38)	missense	probably damaging	0.99
R9752:Zfp335	UTSW	2	164,907,427 (GRCm38)	critical splice donor site	probably null
RF031:Zfp335	UTSW	2	164,907,463 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAGCCATCTGCAGTCAAC -3'
(R):5'- TCCTATCAAGGGGAATGAGGGTC -3'

Posted On

2018-02-19