Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01568:Zfp335'

91069

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

164733802-164753677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164736708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 976 (S976P)

Ref Sequence

ENSEMBL: ENSMUSP00000038298 (fasta)

Gene Model

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

AlphaFold

A2A5K6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041361
AA Change: S976P

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: S976P

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,258,270 (GRCm39)	L298*	probably null	Het
Capn15	G	T	17: 26,184,419 (GRCm39)	R21S	probably damaging	Het
Cbs	A	G	17: 31,840,488 (GRCm39)	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,798 (GRCm39)	I144T	probably benign	Het
Dok4	T	A	8: 95,593,430 (GRCm39)	I119F	probably benign	Het
Dpp9	T	C	17: 56,498,159 (GRCm39)	N599S	probably benign	Het
Ep400	T	C	5: 110,867,361 (GRCm39)	T984A	unknown	Het
Fcrl2	T	C	3: 87,163,986 (GRCm39)	N381S	probably damaging	Het
Fhod3	A	G	18: 25,253,219 (GRCm39)	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,381,561 (GRCm39)	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,654,550 (GRCm39)	T46A	probably benign	Het
Gm3696	T	C	14: 18,435,020 (GRCm39)	N88S	probably benign	Het
Gm5277	A	G	3: 78,799,743 (GRCm39)		noncoding transcript	Het
Gpr153	C	A	4: 152,366,825 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,769,812 (GRCm39)	K95N	probably damaging	Het
Igf2r	A	G	17: 12,902,872 (GRCm39)	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,185,633 (GRCm39)		probably null	Het
Il17re	G	T	6: 113,447,013 (GRCm39)	R588L	probably damaging	Het
Itch	T	C	2: 155,054,382 (GRCm39)		probably benign	Het
Krt1c	T	A	15: 101,721,646 (GRCm39)	D465V	probably damaging	Het
Krt28	G	T	11: 99,262,243 (GRCm39)	P249Q	probably damaging	Het
Lax1	A	T	1: 133,608,038 (GRCm39)	D234E	probably benign	Het
Mtmr3	A	G	11: 4,477,861 (GRCm39)	I61T	probably damaging	Het
Naip5	G	T	13: 100,353,609 (GRCm39)	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,669,802 (GRCm39)	T466A	probably benign	Het
Or5bw2	A	T	7: 6,573,569 (GRCm39)	H193L	possibly damaging	Het
Or8s2	T	C	15: 98,276,787 (GRCm39)	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,054 (GRCm39)	V340A	possibly damaging	Het
Pclo	C	T	5: 14,728,443 (GRCm39)		probably benign	Het
Piezo2	C	T	18: 63,163,463 (GRCm39)	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,620,378 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,720,958 (GRCm39)	H1432Y	probably damaging	Het
Rars1	A	G	11: 35,716,808 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,499,739 (GRCm39)		probably benign	Het
Sdr42e1	T	C	8: 118,390,182 (GRCm39)	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,518,278 (GRCm39)	S245R	probably damaging	Het
Spmip4	A	G	6: 50,550,678 (GRCm39)		probably benign	Het
Tns1	T	G	1: 73,992,668 (GRCm39)	D670A	probably damaging	Het
Trim16	T	A	11: 62,711,684 (GRCm39)	D118E	probably benign	Het
Trpv1	A	G	11: 73,129,269 (GRCm39)	D62G	probably benign	Het
Tyr	A	G	7: 87,087,156 (GRCm39)	L452P	probably damaging	Het
Ubr4	T	C	4: 139,148,684 (GRCm39)	C1723R	probably damaging	Het
Uqcrb	G	A	13: 67,049,459 (GRCm39)		probably benign	Het
Vax2	G	T	6: 83,688,519 (GRCm39)	V81L	possibly damaging	Het
Zan	A	G	5: 137,463,106 (GRCm39)	V691A	unknown	Het
Zfp384	C	T	6: 125,001,095 (GRCm39)	P56S	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
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
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

Posted On

2013-12-09