Mutagenetix > Incidental Mutation

Incidental Mutation 'R4019:Zfp335'

312676

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

MMRRC Submission

040953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164733802-164753677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164743380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 536 (R536H)

Ref Sequence

ENSEMBL: ENSMUSP00000038298 (fasta)

Gene Model

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

AlphaFold

A2A5K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041361
AA Change: R536H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: R536H

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: 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 damaging
Transcript: ENSMUST00000183830
AA Change: R536H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: R536H

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	C	9: 106,313,978 (GRCm39)	T61A	possibly damaging	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Brpf1	G	A	6: 113,287,243 (GRCm39)	R157Q	probably damaging	Het
Canx	A	T	11: 50,190,072 (GRCm39)	S429T	probably damaging	Het
Casz1	C	T	4: 149,017,335 (GRCm39)	P208L	probably benign	Het
Ctnnd1	C	T	2: 84,450,302 (GRCm39)	R306H	probably damaging	Het
Dip2c	T	C	13: 9,664,401 (GRCm39)	V909A	probably damaging	Het
Epg5	C	A	18: 78,073,665 (GRCm39)	Q2511K	probably damaging	Het
Ghitm	G	A	14: 36,852,651 (GRCm39)	A143V	probably damaging	Het
Gramd2b	T	C	18: 56,612,026 (GRCm39)		probably null	Het
Ifitm3	T	C	7: 140,589,772 (GRCm39)	T94A	possibly damaging	Het
Ift81	G	A	5: 122,731,192 (GRCm39)	T321M	probably benign	Het
Ikbkb	C	T	8: 23,161,728 (GRCm39)	V387I	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lpar5	A	G	6: 125,058,638 (GRCm39)	N120D	probably damaging	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lrrtm2	T	C	18: 35,345,923 (GRCm39)	I460V	possibly damaging	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nbas	A	G	12: 13,532,520 (GRCm39)	R1743G	probably damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,371,154 (GRCm39)	T311A	probably benign	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or4c15	A	G	2: 88,760,080 (GRCm39)	I193T	probably benign	Het
Or52k2	T	C	7: 102,253,849 (GRCm39)	F96S	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pdgfb	A	C	15: 79,885,923 (GRCm39)	V108G	probably damaging	Het
Prpf40b	T	C	15: 99,214,357 (GRCm39)	S846P	probably benign	Het
Ptprc	T	A	1: 138,006,254 (GRCm39)	H752L	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Scn3a	A	G	2: 65,356,295 (GRCm39)		probably benign	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Sox8	A	G	17: 25,789,271 (GRCm39)	Y76H	probably damaging	Het
Spdya	A	C	17: 71,863,309 (GRCm39)	K19N	possibly damaging	Het
Syngap1	C	T	17: 27,171,315 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tbl3	A	G	17: 24,923,695 (GRCm39)	V239A	probably damaging	Het
Tenm2	T	C	11: 35,937,901 (GRCm39)	I1592V	probably benign	Het
Vmn2r109	T	A	17: 20,774,074 (GRCm39)	D427V	probably benign	Het
Vmn2r115	A	G	17: 23,579,017 (GRCm39)	K830R	probably damaging	Het
Vmn2r45	A	T	7: 8,474,580 (GRCm39)	L816*	probably null	Het
Zfp777	T	A	6: 48,019,046 (GRCm39)	Q296L	probably damaging	Het

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	164,749,397 (GRCm39)	small insertion	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
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'- TCTGAACTGGAGCCCTCAAG -3'
(R):5'- AGGTGCTCTCTGAGGAGAATTCC -3'

Sequencing Primer
(F):5'- ACTGTGACTCTGACCATC -3'
(R):5'- TCTCTGAGGAGAATTCCCAGCC -3'

Posted On

2015-04-30