Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Zfp335'

511208

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4342 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

164733802-164753677 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

C to CCCC at 164749397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000139247] [ENSMUST00000183830]

AlphaFold

A2A5K6

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000129364

Predicted Effect

probably benign
Transcript: ENSMUST00000139247

SMART Domains

Protein: ENSMUSP00000138664
Gene: ENSMUSG00000039834

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
low complexity region	30	51	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

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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 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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 125,566,572 (GRCm39)		probably null	Homo
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,590,831 (GRCm39)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,387,487 (GRCm39)		probably benign	Het
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 108,999,344 (GRCm39)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,228,274 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,352 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Defa29	C	G	8: 21,816,160 (GRCm39)	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,629,032 (GRCm39)		probably null	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,674,171 (GRCm39)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,433,013 (GRCm39)		probably benign	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,525,991 (GRCm39)		probably benign	Het
Fbxo22	A	C	9: 55,128,354 (GRCm39)		probably null	Het
Flg	G	A	3: 93,197,820 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,073,569 (GRCm39)		probably benign	Homo
Gm14496	A	C	2: 181,637,699 (GRCm39)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,927 (GRCm39)		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,607 (GRCm39)		probably benign	Het
H1f6	TGTGG	TG	13: 23,879,896 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Homo
Hoxa3	G	GCTT	6: 52,147,110 (GRCm39)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Klra10	G	A	6: 130,249,710 (GRCm39)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,277,029 (GRCm39)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 92,925,554 (GRCm39)		probably benign	Het
Mak16	T	G,A	8: 31,651,777 (GRCm39)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,409 (GRCm39)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,183,415 (GRCm39)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,567,572 (GRCm39)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,549,762 (GRCm39)		probably benign	Het
Naip1	C	T	13: 100,561,979 (GRCm39)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,724,235 (GRCm39)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 35,073,065 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
P4ha2	GTGTTGCTG	GTG	11: 54,001,077 (GRCm39)		probably benign	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,820 (GRCm39)		probably benign	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,468,293 (GRCm39)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Pramel16	AAGAG	AAG	4: 143,676,327 (GRCm39)		probably null	Het
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Pramel27	AA	AATA	4: 143,578,213 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 85,682,807 (GRCm39)		probably benign	Het
Semp2l2a	G	C	8: 13,887,613 (GRCm39)	H159Q	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,646,821 (GRCm39)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,515,209 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,565 (GRCm39)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 99,963,568 (GRCm39)		probably benign	Homo
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm39)		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm39)		probably benign	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm39)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm39)		probably benign	Homo
Tdpoz3	C	T	3: 93,733,819 (GRCm39)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,796,419 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 151,018,851 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,342,369 (GRCm39)		probably benign	Homo
Triobp	G	GTCA	15: 78,877,592 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,537,033 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	TC	TCCCC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn2r125	G	A	4: 156,703,260 (GRCm39)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,930,588 (GRCm39)		probably benign	Het
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,544,769 (GRCm39)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,899,754 (GRCm39)		probably benign	Het
Zfp93	G	A	7: 23,975,011 (GRCm39)	R332H	possibly damaging	Het
Zpld2	G	GCTC	4: 133,929,942 (GRCm39)		probably benign	Homo

Other mutations in Zfp335

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Zfp335	APN	2	164,734,302 (GRCm39)	missense	probably damaging	1.00
IGL00921:Zfp335	APN	2	164,736,696 (GRCm39)	missense	possibly damaging	0.51
IGL00980:Zfp335	APN	2	164,744,594 (GRCm39)	nonsense	probably null
IGL01145:Zfp335	APN	2	164,749,422 (GRCm39)	missense	probably benign	0.03
IGL01568:Zfp335	APN	2	164,736,708 (GRCm39)	missense	possibly damaging	0.70
IGL01612:Zfp335	APN	2	164,752,540 (GRCm39)	critical splice donor site	probably null
IGL02138:Zfp335	APN	2	164,735,724 (GRCm39)	missense	probably damaging	1.00
IGL02675:Zfp335	APN	2	164,752,609 (GRCm39)	missense	probably benign
IGL03206:Zfp335	APN	2	164,734,601 (GRCm39)	splice site	probably benign
IGL03269:Zfp335	APN	2	164,742,274 (GRCm39)	missense	probably damaging	1.00
IGL03306:Zfp335	APN	2	164,737,904 (GRCm39)	splice site	probably benign
FR4342:Zfp335	UTSW	2	164,749,385 (GRCm39)	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164,749,403 (GRCm39)	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164,749,397 (GRCm39)	small insertion	probably benign
FR4548:Zfp335	UTSW	2	164,749,392 (GRCm39)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,749,404 (GRCm39)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,749,395 (GRCm39)	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164,749,394 (GRCm39)	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164,749,398 (GRCm39)	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164,749,394 (GRCm39)	small insertion	probably benign
PIT4403001:Zfp335	UTSW	2	164,735,636 (GRCm39)	missense	possibly damaging	0.56
R0005:Zfp335	UTSW	2	164,751,222 (GRCm39)	missense	possibly damaging	0.91
R0101:Zfp335	UTSW	2	164,741,910 (GRCm39)	missense	probably damaging	1.00
R0196:Zfp335	UTSW	2	164,738,065 (GRCm39)	missense	possibly damaging	0.88
R0211:Zfp335	UTSW	2	164,749,612 (GRCm39)	missense	probably damaging	1.00
R0211:Zfp335	UTSW	2	164,749,612 (GRCm39)	missense	probably damaging	1.00
R0533:Zfp335	UTSW	2	164,749,842 (GRCm39)	nonsense	probably null
R0865:Zfp335	UTSW	2	164,741,415 (GRCm39)	splice site	probably null
R1023:Zfp335	UTSW	2	164,734,505 (GRCm39)	missense	possibly damaging	0.88
R1029:Zfp335	UTSW	2	164,734,598 (GRCm39)	splice site	probably benign
R1052:Zfp335	UTSW	2	164,749,388 (GRCm39)	small deletion	probably benign
R1106:Zfp335	UTSW	2	164,749,471 (GRCm39)	small deletion	probably benign
R1146:Zfp335	UTSW	2	164,738,043 (GRCm39)	missense	probably benign	0.01
R1146:Zfp335	UTSW	2	164,738,043 (GRCm39)	missense	probably benign	0.01
R1274:Zfp335	UTSW	2	164,749,388 (GRCm39)	small deletion	probably benign
R1386:Zfp335	UTSW	2	164,740,161 (GRCm39)	missense	probably benign	0.00
R1433:Zfp335	UTSW	2	164,741,376 (GRCm39)	missense	probably damaging	0.99
R1813:Zfp335	UTSW	2	164,734,525 (GRCm39)	missense	probably damaging	0.99
R1959:Zfp335	UTSW	2	164,736,722 (GRCm39)	missense	probably damaging	1.00
R2372:Zfp335	UTSW	2	164,736,959 (GRCm39)	missense	probably damaging	1.00
R3847:Zfp335	UTSW	2	164,742,026 (GRCm39)	splice site	probably null
R3937:Zfp335	UTSW	2	164,752,620 (GRCm39)	missense	probably damaging	1.00
R3946:Zfp335	UTSW	2	164,734,109 (GRCm39)	missense	probably damaging	1.00
R3979:Zfp335	UTSW	2	164,752,558 (GRCm39)	missense	probably benign	0.00
R4019:Zfp335	UTSW	2	164,743,380 (GRCm39)	missense	probably damaging	1.00
R4020:Zfp335	UTSW	2	164,743,380 (GRCm39)	missense	probably damaging	1.00
R4668:Zfp335	UTSW	2	164,742,206 (GRCm39)	missense	probably damaging	1.00
R5000:Zfp335	UTSW	2	164,736,588 (GRCm39)	missense	probably benign
R5038:Zfp335	UTSW	2	164,752,564 (GRCm39)	nonsense	probably null
R5245:Zfp335	UTSW	2	164,736,678 (GRCm39)	missense	probably benign
R5411:Zfp335	UTSW	2	164,744,165 (GRCm39)	missense	probably damaging	0.99
R5422:Zfp335	UTSW	2	164,749,650 (GRCm39)	missense	probably damaging	1.00
R5968:Zfp335	UTSW	2	164,734,314 (GRCm39)	missense	probably damaging	0.99
R6056:Zfp335	UTSW	2	164,737,018 (GRCm39)	splice site	probably null
R6551:Zfp335	UTSW	2	164,751,285 (GRCm39)	missense	probably benign
R6927:Zfp335	UTSW	2	164,735,640 (GRCm39)	missense	probably damaging	1.00
R6943:Zfp335	UTSW	2	164,736,795 (GRCm39)	missense	possibly damaging	0.50
R6995:Zfp335	UTSW	2	164,735,210 (GRCm39)	nonsense	probably null
R7174:Zfp335	UTSW	2	164,744,423 (GRCm39)	missense	probably damaging	1.00
R7185:Zfp335	UTSW	2	164,735,164 (GRCm39)	critical splice donor site	probably null
R7296:Zfp335	UTSW	2	164,742,052 (GRCm39)	missense	probably damaging	0.99
R7322:Zfp335	UTSW	2	164,752,741 (GRCm39)	start codon destroyed	probably null	0.90
R7504:Zfp335	UTSW	2	164,751,338 (GRCm39)	missense	probably benign	0.27
R7560:Zfp335	UTSW	2	164,737,912 (GRCm39)	missense	probably damaging	1.00
R7637:Zfp335	UTSW	2	164,734,459 (GRCm39)	critical splice donor site	probably null
R8064:Zfp335	UTSW	2	164,749,620 (GRCm39)	missense	probably damaging	1.00
R8208:Zfp335	UTSW	2	164,735,536 (GRCm39)	critical splice acceptor site	probably null
R8228:Zfp335	UTSW	2	164,746,818 (GRCm39)	missense	probably damaging	1.00
R8271:Zfp335	UTSW	2	164,739,973 (GRCm39)	missense	probably damaging	0.98
R8688:Zfp335	UTSW	2	164,734,113 (GRCm39)	missense	probably damaging	1.00
R8803:Zfp335	UTSW	2	164,751,290 (GRCm39)	missense	probably benign	0.14
R9266:Zfp335	UTSW	2	164,738,007 (GRCm39)	missense	probably benign	0.33
R9352:Zfp335	UTSW	2	164,742,242 (GRCm39)	missense	probably damaging	0.99
R9487:Zfp335	UTSW	2	164,735,395 (GRCm39)	missense	probably damaging	0.99
R9752:Zfp335	UTSW	2	164,749,347 (GRCm39)	critical splice donor site	probably null
RF031:Zfp335	UTSW	2	164,749,383 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGTGCGTGTATCTTTTCGC -3'
(R):5'- TGCAACAGTTCAAGTGCAAG -3'

Sequencing Primer
(F):5'- GCGTGTATCTTTTCGCTGGCTC -3'
(R):5'- CAAGATGTGCCAGTACCGG -3'

Posted On

2018-04-05