Mutagenetix > Incidental Mutation

Incidental Mutation 'R8688:Zfp335'

668228

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 #

R8688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164891882-164911757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164892193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1329 (Y1329H)

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: Y1329H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: Y1329H

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

0.4717

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 145,045,373	T256I	probably damaging	Het
2700097O09Rik	C	T	12: 55,057,351	G161D	probably damaging	Het
4932438A13Rik	T	A	3: 37,035,917	Y745N		Het
Acvr1	G	A	2: 58,462,949	A333V	probably damaging	Het
Adamtsl1	A	C	4: 86,248,026	S209R		Het
Akr1c18	T	C	13: 4,137,195	K207E	possibly damaging	Het
Anapc1	T	G	2: 128,685,828	Q70P	probably benign	Het
Arhgef33	A	G	17: 80,373,186	E585G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
Baz1b	T	G	5: 135,242,489	S1309A	probably benign	Het
Bdp1	T	C	13: 100,103,799	R14G	probably damaging	Het
Ccdc150	A	C	1: 54,367,973	Q1058H	probably damaging	Het
Cdk5rap2	A	G	4: 70,380,273	F74S	probably damaging	Het
CK137956	C	T	4: 127,950,946	E335K	possibly damaging	Het
Cyp2c66	A	T	19: 39,163,440	I200F	probably benign	Het
Dmbt1	T	A	7: 131,058,254	W412R	unknown	Het
Dsel	A	T	1: 111,862,738	C22*	probably null	Het
Ep400	A	G	5: 110,720,819	M949T	unknown	Het
Gcc1	A	T	6: 28,418,740	Y531*	probably null	Het
Gm10277	T	C	11: 77,785,579	R189G	unknown	Het
Gm17078	T	A	14: 51,611,230	R17*	probably null	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Grip1	A	G	10: 119,999,904	I502V	probably benign	Het
H2-M9	A	T	17: 36,642,142	V91D	probably damaging	Het
Hcls1	T	C	16: 36,961,459	L310P	probably benign	Het
Hsd17b11	T	A	5: 104,021,718	I8F	probably benign	Het
Ildr2	A	T	1: 166,269,533	D107V	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,301		probably benign	Het
Josd2	T	C	7: 44,471,216	W126R	probably damaging	Het
Ltbp2	T	A	12: 84,803,804	D912V	probably benign	Het
Mdc1	A	G	17: 35,850,491	I765M	probably benign	Het
Mroh1	A	G	15: 76,428,350	E579G	probably benign	Het
Nmur2	T	C	11: 56,040,828	N19S	probably damaging	Het
Obscn	T	C	11: 59,056,083	Y4075C	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr1286	C	T	2: 111,420,613	V113I	probably benign	Het
Olfr916	T	A	9: 38,657,751	I214L	probably benign	Het
Orm1	G	A	4: 63,346,341	V167M	probably damaging	Het
Phf14	A	G	6: 11,990,035	N688D	probably damaging	Het
Phlpp2	A	G	8: 109,904,380	K219E	probably damaging	Het
Prdm2	T	C	4: 143,111,740	T1683A	probably benign	Het
Ptprh	T	A	7: 4,551,023	Q815L	probably benign	Het
Rag1	A	T	2: 101,642,623	Y725N	probably damaging	Het
Rp1	T	A	1: 4,346,405	I1495F	probably benign	Het
Scn3a	A	G	2: 65,525,703	V229A	possibly damaging	Het
Siglech	A	G	7: 55,768,614	D110G	probably benign	Het
St8sia2	A	T	7: 73,943,344	D321E	probably damaging	Het
Stxbp3	A	G	3: 108,802,109		probably benign	Het
Tbccd1	A	T	16: 22,822,458	S390T	possibly damaging	Het
Tg	T	A	15: 66,694,953		probably benign	Het
Trio	T	A	15: 27,748,238	N2443Y	possibly damaging	Het
Ube2s	C	T	7: 4,810,578	M62I	probably benign	Het
Ugt2b37	T	C	5: 87,242,381	D402G	possibly damaging	Het
Vmn2r80	A	G	10: 79,168,235	N94S	probably damaging	Het
Wapl	T	A	14: 34,692,592	S470R	possibly damaging	Het
Xrra1	A	G	7: 99,906,545	E373G	probably damaging	Het
Zfp689	C	A	7: 127,444,912	C182F	probably benign	Het
Zfp933	T	A	4: 147,826,792	S116C	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
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
R9487:Zfp335	UTSW	2	164893475	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'- AAATTTCTCTCCCAAAGCCTGC -3'
(R):5'- ACTCCGCTGTCACAGGTATG -3'

Sequencing Primer
(F):5'- GCACCCAGCATGTCCTG -3'
(R):5'- TATGGACCGGATACTGCCAG -3'

Posted On

2021-04-30