Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Zfp335'

716645

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164891882-164911757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164893475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1158 (H1158R)

Ref Sequence

ENSEMBL: ENSMUSP00000038298 (fasta)

Gene Model

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

AlphaFold

A2A5K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041361
AA Change: H1158R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: H1158R

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,182,506	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,818,032	G762S	probably damaging	Het
Acta2	C	A	19: 34,248,465	A110S	probably damaging	Het
Adam26a	T	C	8: 43,569,419	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,605,424	*85R	probably null	Het
Ang2	A	C	14: 51,195,614	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,197,952	V529I	probably benign	Het
Aox4	G	T	1: 58,248,938	V737F	probably benign	Het
Aqr	T	C	2: 114,104,047	N1371S	probably benign	Het
Bach1	T	A	16: 87,729,845	S732T	probably benign	Het
Bcr	T	A	10: 75,131,599	I555N	probably damaging	Het
Bicra	T	C	7: 15,971,792	T1575A	probably damaging	Het
Bop1	A	G	15: 76,453,876	L598P	probably damaging	Het
Cacna1d	A	T	14: 30,123,462	F605L	possibly damaging	Het
Capn15	C	T	17: 25,965,379	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,920,852		probably benign	Het
Dnah2	T	C	11: 69,515,791	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,047,219	I159N	probably damaging	Het
Ecel1	A	T	1: 87,147,994	V774E	probably damaging	Het
Eif5b	T	A	1: 38,019,370	L251*	probably null	Het
Eif5b	T	G	1: 38,045,479	C849W	probably damaging	Het
Ext2	T	C	2: 93,762,611	D416G	probably damaging	Het
Fancm	G	A	12: 65,106,614	W1281*	probably null	Het
Flvcr1	A	T	1: 191,011,632	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,451,634		probably null	Het
Frem2	T	A	3: 53,653,484	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,508,125		probably benign	Het
Gm340	C	A	19: 41,585,246	N813K	probably damaging	Het
Gmpr2	G	A	14: 55,678,321	V319I	probably damaging	Het
Gna12	A	T	5: 140,760,583	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,896,765	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,366,531	H285R	probably benign	Het
H2-M2	A	T	17: 37,482,533	V194E	probably benign	Het
Hephl1	G	A	9: 15,084,534	R431W	possibly damaging	Het
Hr	A	G	14: 70,556,437	T46A	probably benign	Het
Hr	A	G	14: 70,556,765	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,498,198	D256E	probably benign	Het
Ifi208	C	T	1: 173,683,395	T372I	probably damaging	Het
Ifi47	T	G	11: 49,095,793	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itga11	A	T	9: 62,762,889	N765I	probably benign	Het
Klhl22	T	A	16: 17,771,799	I108K	probably benign	Het
Lancl1	T	G	1: 67,034,222	H34P	probably benign	Het
Lrmp	A	G	6: 145,174,531	I491V	probably benign	Het
Mbd3l1	G	A	9: 18,484,978	G133D	probably benign	Het
Med12l	T	C	3: 59,247,932	F1178L	probably benign	Het
Mrm1	A	T	11: 84,814,705	N289K	probably damaging	Het
Myf6	A	G	10: 107,494,212	Y165H	probably benign	Het
Myo1g	C	A	11: 6,506,913	C971F	probably benign	Het
Myo3a	T	C	2: 22,241,051	M3T	probably benign	Het
Nsrp1	G	A	11: 77,046,288	R361*	probably null	Het
Olfr1055	T	A	2: 86,347,502	D88V	probably benign	Het
Olfr1241	T	C	2: 89,482,412	H241R	probably damaging	Het
Olfr1250	T	C	2: 89,657,387	D18G	probably damaging	Het
Olfr478	A	T	7: 108,031,956	I129N	possibly damaging	Het
Olfr55	C	A	17: 33,176,574	H57Q	possibly damaging	Het
Olfr890	G	A	9: 38,143,570	C140Y	probably benign	Het
Olfr963	A	C	9: 39,669,315	Q86P	possibly damaging	Het
Oscar	T	G	7: 3,611,664	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,126,293	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,174,697	I56T	probably damaging	Het
Pxdn	T	A	12: 29,994,553	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,347,931	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,251	T82A	probably benign	Het
Scmh1	G	A	4: 120,463,087	W30*	probably null	Het
Sema4g	T	C	19: 44,992,632	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,432,668	M404K	probably damaging	Het
Sgk3	T	C	1: 9,880,391		probably null	Het
Slc16a5	A	T	11: 115,469,912	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,397,759	L290F	probably damaging	Het
Snx32	A	C	19: 5,497,708	D191E	probably damaging	Het
Sp4	T	C	12: 118,299,124	I396V	probably benign	Het
Srrd	A	G	5: 112,342,899	V42A	unknown	Het
Stim1	A	G	7: 102,431,050	H547R	unknown	Het
Svep1	G	A	4: 58,070,517	A2423V	probably benign	Het
Tep1	A	G	14: 50,829,230	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,559,838	S104R	probably benign	Het
Tkt	T	C	14: 30,559,839	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,775,642	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttll10	G	T	4: 156,043,159	T389K	probably benign	Het
Tubal3	A	G	13: 3,930,674	I129V	probably benign	Het
Ucp3	A	G	7: 100,481,916	E192G	probably damaging	Het
Usp47	A	G	7: 112,077,856	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,081,234	L833M	possibly damaging	Het
Vps13d	A	G	4: 145,081,299		probably null	Het
Wdr7	A	G	18: 63,777,868	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,709,237	I213T	probably damaging	Het
Zfp281	T	C	1: 136,627,405	I707T	probably damaging	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	Het
Zfr2	T	A	10: 81,240,135	L192Q	probably benign	Het

Other mutations in Zfp335

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Zfp335	APN	2	164892382	missense	probably damaging	1.00
IGL00921:Zfp335	APN	2	164894776	missense	possibly damaging	0.51
IGL00980:Zfp335	APN	2	164902674	nonsense	probably null
IGL01145:Zfp335	APN	2	164907502	missense	probably benign	0.03
IGL01568:Zfp335	APN	2	164894788	missense	possibly damaging	0.70
IGL01612:Zfp335	APN	2	164910620	critical splice donor site	probably null
IGL02138:Zfp335	APN	2	164893804	missense	probably damaging	1.00
IGL02675:Zfp335	APN	2	164910689	missense	probably benign
IGL03206:Zfp335	APN	2	164892681	splice site	probably benign
IGL03269:Zfp335	APN	2	164900354	missense	probably damaging	1.00
IGL03306:Zfp335	APN	2	164895984	splice site	probably benign
FR4342:Zfp335	UTSW	2	164907465	small insertion	probably benign
FR4342:Zfp335	UTSW	2	164907477	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164907477	small insertion	probably benign
FR4449:Zfp335	UTSW	2	164907483	small insertion	probably benign
FR4548:Zfp335	UTSW	2	164907472	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164907474	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164907475	small insertion	probably benign
FR4737:Zfp335	UTSW	2	164907484	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164907474	small insertion	probably benign
FR4976:Zfp335	UTSW	2	164907478	small insertion	probably benign
PIT4403001:Zfp335	UTSW	2	164893716	missense	possibly damaging	0.56
R0005:Zfp335	UTSW	2	164909302	missense	possibly damaging	0.91
R0101:Zfp335	UTSW	2	164899990	missense	probably damaging	1.00
R0196:Zfp335	UTSW	2	164896145	missense	possibly damaging	0.88
R0211:Zfp335	UTSW	2	164907692	missense	probably damaging	1.00
R0211:Zfp335	UTSW	2	164907692	missense	probably damaging	1.00
R0533:Zfp335	UTSW	2	164907922	nonsense	probably null
R0865:Zfp335	UTSW	2	164899495	splice site	probably null
R1023:Zfp335	UTSW	2	164892585	missense	possibly damaging	0.88
R1029:Zfp335	UTSW	2	164892678	splice site	probably benign
R1052:Zfp335	UTSW	2	164907468	small deletion	probably benign
R1106:Zfp335	UTSW	2	164907551	small deletion	probably benign
R1146:Zfp335	UTSW	2	164896123	missense	probably benign	0.01
R1146:Zfp335	UTSW	2	164896123	missense	probably benign	0.01
R1274:Zfp335	UTSW	2	164907468	small deletion	probably benign
R1386:Zfp335	UTSW	2	164898241	missense	probably benign	0.00
R1433:Zfp335	UTSW	2	164899456	missense	probably damaging	0.99
R1813:Zfp335	UTSW	2	164892605	missense	probably damaging	0.99
R1959:Zfp335	UTSW	2	164894802	missense	probably damaging	1.00
R2372:Zfp335	UTSW	2	164895039	missense	probably damaging	1.00
R3847:Zfp335	UTSW	2	164900106	splice site	probably null
R3937:Zfp335	UTSW	2	164910700	missense	probably damaging	1.00
R3946:Zfp335	UTSW	2	164892189	missense	probably damaging	1.00
R3979:Zfp335	UTSW	2	164910638	missense	probably benign	0.00
R4019:Zfp335	UTSW	2	164901460	missense	probably damaging	1.00
R4020:Zfp335	UTSW	2	164901460	missense	probably damaging	1.00
R4668:Zfp335	UTSW	2	164900286	missense	probably damaging	1.00
R5000:Zfp335	UTSW	2	164894668	missense	probably benign
R5038:Zfp335	UTSW	2	164910644	nonsense	probably null
R5245:Zfp335	UTSW	2	164894758	missense	probably benign
R5411:Zfp335	UTSW	2	164902245	missense	probably damaging	0.99
R5422:Zfp335	UTSW	2	164907730	missense	probably damaging	1.00
R5968:Zfp335	UTSW	2	164892394	missense	probably damaging	0.99
R6056:Zfp335	UTSW	2	164895098	splice site	probably null
R6551:Zfp335	UTSW	2	164909365	missense	probably benign
R6927:Zfp335	UTSW	2	164893720	missense	probably damaging	1.00
R6943:Zfp335	UTSW	2	164894875	missense	possibly damaging	0.50
R6995:Zfp335	UTSW	2	164893290	nonsense	probably null
R7174:Zfp335	UTSW	2	164902503	missense	probably damaging	1.00
R7185:Zfp335	UTSW	2	164893244	critical splice donor site	probably null
R7296:Zfp335	UTSW	2	164900132	missense	probably damaging	0.99
R7322:Zfp335	UTSW	2	164910821	start codon destroyed	probably null	0.90
R7504:Zfp335	UTSW	2	164909418	missense	probably benign	0.27
R7560:Zfp335	UTSW	2	164895992	missense	probably damaging	1.00
R7637:Zfp335	UTSW	2	164892539	critical splice donor site	probably null
R8064:Zfp335	UTSW	2	164907700	missense	probably damaging	1.00
R8208:Zfp335	UTSW	2	164893616	critical splice acceptor site	probably null
R8228:Zfp335	UTSW	2	164904898	missense	probably damaging	1.00
R8271:Zfp335	UTSW	2	164898053	missense	probably damaging	0.98
R8688:Zfp335	UTSW	2	164892193	missense	probably damaging	1.00
R8803:Zfp335	UTSW	2	164909370	missense	probably benign	0.14
R9266:Zfp335	UTSW	2	164896087	missense	probably benign	0.33
R9352:Zfp335	UTSW	2	164900322	missense	probably damaging	0.99
R9752:Zfp335	UTSW	2	164907427	critical splice donor site	probably null
RF031:Zfp335	UTSW	2	164907463	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGTTCCTGGGCCACAATG -3'
(R):5'- ACACCTGGTAGAGCTATCTGATGC -3'

Sequencing Primer
(F):5'- ACAATGATGTGTTCTTGGCTCAG -3'
(R):5'- GGTAGAGCTATCTGATGCCCACTC -3'

Posted On

2022-07-18