Mutagenetix > Incidental Mutation

Incidental Mutation 'R6551:Zfp335'

521584

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

MMRRC Submission

044676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6551 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164733802-164753677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 164751285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 94 (P94S)

Ref Sequence

ENSEMBL: ENSMUSP00000139133 (fasta)

Gene Model

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

AlphaFold

A2A5K6

Predicted Effect

probably benign
Transcript: ENSMUST00000041361
AA Change: P94S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: P94S

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

noncoding transcript
Transcript: ENSMUST00000142338

Predicted Effect

probably benign
Transcript: ENSMUST00000183830
AA Change: P94S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: P94S

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: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	T	1: 192,856,831 (GRCm39)	Q61L	probably damaging	Het
Acss2	T	C	2: 155,393,128 (GRCm39)	S285P	probably benign	Het
Ager	A	G	17: 34,818,442 (GRCm39)		probably null	Het
Alkbh7	T	A	17: 57,305,945 (GRCm39)	Y115*	probably null	Het
Brwd1	T	C	16: 95,795,162 (GRCm39)	D2184G	possibly damaging	Het
Chp1	T	A	2: 119,402,294 (GRCm39)	H89Q	possibly damaging	Het
Clmp	T	C	9: 40,682,573 (GRCm39)	V119A	probably benign	Het
Cryge	A	T	1: 65,087,796 (GRCm39)	M171K	probably benign	Het
Cttnbp2nl	A	T	3: 104,912,433 (GRCm39)	S484T	possibly damaging	Het
Dsg3	C	A	18: 20,672,968 (GRCm39)	P880T	unknown	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Espn	T	C	4: 152,213,223 (GRCm39)			Het
Fbxo31	A	C	8: 122,291,443 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,342 (GRCm39)	V1068A	probably damaging	Het
Jak1	C	A	4: 101,051,040 (GRCm39)		probably benign	Het
Klra10	A	T	6: 130,252,718 (GRCm39)	D185E	probably benign	Het
Lhx1	A	C	11: 84,412,739 (GRCm39)	D60E	probably benign	Het
Lyar	C	A	5: 38,390,616 (GRCm39)	A326D	probably damaging	Het
Muc16	A	C	9: 18,473,858 (GRCm39)	S1280A	possibly damaging	Het
Nol9	G	A	4: 152,136,325 (GRCm39)	V466I	possibly damaging	Het
Or10d1	C	A	9: 39,483,856 (GRCm39)	R233L	probably benign	Het
Or12e8	T	C	2: 87,677,005 (GRCm39)	V130A	possibly damaging	Het
Or1e17	T	C	11: 73,831,129 (GRCm39)	I19T	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2w3b	A	T	11: 58,623,583 (GRCm39)	M136K	probably damaging	Het
Or2y10	G	T	11: 49,454,816 (GRCm39)	V23L	probably benign	Het
Pik3c2a	A	T	7: 116,016,731 (GRCm39)	I342N	probably damaging	Het
Pnldc1	A	G	17: 13,124,456 (GRCm39)	M133T	probably damaging	Het
Rab11fip1	G	A	8: 27,646,512 (GRCm39)	S188L	probably damaging	Het
Rapgef2	A	T	3: 79,122,342 (GRCm39)		probably null	Het
Rnf103	G	A	6: 71,487,349 (GRCm39)	C660Y	probably damaging	Het
Rph3al	G	A	11: 75,797,372 (GRCm39)	S108F	possibly damaging	Het
Srsf7	A	C	17: 80,511,648 (GRCm39)		probably benign	Het
Ssrp1	A	G	2: 84,871,450 (GRCm39)		probably null	Het
Tamm41	T	C	6: 114,989,142 (GRCm39)	D284G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem39b	A	G	4: 129,585,896 (GRCm39)	V25A	probably benign	Het
Tmem88b	G	T	4: 155,870,149 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,941,550 (GRCm39)	W266R	probably damaging	Het
Usp8	T	A	2: 126,575,102 (GRCm39)		probably benign	Het
Zbtb48	T	G	4: 152,106,678 (GRCm39)	Q142P	probably benign	Het
Zdhhc18	T	C	4: 133,340,960 (GRCm39)	T267A	probably benign	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
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
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'- CCTACTCACTCTGGATGAGGTC -3'
(R):5'- GACTATATCTGTGGGCCCTCAC -3'

Sequencing Primer
(F):5'- CTGGACCAATGGTAGATTCGATGATC -3'
(R):5'- CCTCTGTAAGGCTGAAATGTGG -3'

Posted On

2018-06-06