Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:Zfp335'

581657

Institutional Source

Beutler Lab

Gene Symbol

Zfp335

Ensembl Gene

ENSMUSG00000039834

Gene Name

zinc finger protein 335

Synonyms

1810045J01Rik

MMRRC Submission

045577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7504 (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 164751338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 76 (T76I)

Ref Sequence

ENSEMBL: ENSMUSP00000038298 (fasta)

Gene Model

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

AlphaFold

A2A5K6

Predicted Effect

probably benign
Transcript: ENSMUST00000041361
AA Change: T76I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: T76I

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

possibly damaging
Transcript: ENSMUST00000183830
AA Change: T76I

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: T76I

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 15,163,915 (GRCm39)	A14G	probably damaging	Het
Btn1a1	A	T	13: 23,645,886 (GRCm39)	M161K	probably benign	Het
Camkk2	G	A	5: 122,884,371 (GRCm39)	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,356,814 (GRCm39)	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,317,488 (GRCm39)	L36P	probably damaging	Het
Dek	A	G	13: 47,241,511 (GRCm39)	I351T	probably damaging	Het
Dst	T	C	1: 34,240,098 (GRCm39)	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,332,257 (GRCm39)	N300K	probably damaging	Het
Ephx2	A	G	14: 66,339,066 (GRCm39)	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,521,999 (GRCm39)	I198N	probably damaging	Het
Grid1	G	T	14: 35,284,470 (GRCm39)	A738S	probably damaging	Het
Gsx2	G	A	5: 75,237,060 (GRCm39)		probably null	Het
Hc	G	A	2: 34,951,331 (GRCm39)	T22I	not run	Het
Hps1	T	C	19: 42,755,159 (GRCm39)	D261G	probably benign	Het
Ift80	T	C	3: 68,825,338 (GRCm39)	Y539C	probably damaging	Het
Insc	G	T	7: 114,390,533 (GRCm39)		probably null	Het
Isg15	T	C	4: 156,284,502 (GRCm39)	M9V	probably damaging	Het
Kalrn	A	G	16: 34,076,603 (GRCm39)	L695P	unknown	Het
Nars1	A	C	18: 64,645,093 (GRCm39)	F52V	probably benign	Het
Nmt1	T	G	11: 102,947,285 (GRCm39)	F225V	probably damaging	Het
Or10q12	T	A	19: 13,746,096 (GRCm39)	I130N	probably damaging	Het
Or7a36	A	G	10: 78,820,494 (GRCm39)	Y290C	possibly damaging	Het
Or8c8	A	T	9: 38,165,539 (GRCm39)	K272N	possibly damaging	Het
Pbx3	T	C	2: 34,065,936 (GRCm39)	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,554,852 (GRCm39)	T61S	probably benign	Het
Pramel40	G	T	5: 94,464,906 (GRCm39)	V431L	probably benign	Het
Rab11fip1	T	C	8: 27,642,981 (GRCm39)	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,061,514 (GRCm39)	Y589H	probably benign	Het
Scara3	A	G	14: 66,168,780 (GRCm39)	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,758,793 (GRCm39)	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,600,091 (GRCm39)	K415E	probably benign	Het
Stag1	C	T	9: 100,770,381 (GRCm39)	T639I	probably benign	Het
Sv2b	A	T	7: 74,786,131 (GRCm39)	F430I	probably benign	Het
Tenm2	C	T	11: 36,030,570 (GRCm39)	C743Y	probably damaging	Het
Tet2	C	A	3: 133,193,100 (GRCm39)	V445L	probably benign	Het
Tmem132c	T	C	5: 127,631,696 (GRCm39)	S652P	probably damaging	Het
Togaram1	A	G	12: 65,039,391 (GRCm39)	D1155G	possibly damaging	Het
Traip	T	C	9: 107,838,743 (GRCm39)	I169T	probably benign	Het
Trmt9b	A	C	8: 36,979,309 (GRCm39)	N304T	probably benign	Het
Usp45	T	G	4: 21,816,892 (GRCm39)	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,104,166 (GRCm39)	H263L	probably benign	Het
Wdr95	T	C	5: 149,505,311 (GRCm39)	V364A	probably damaging	Het
Zfp128	G	A	7: 12,624,405 (GRCm39)	D258N	probably damaging	Het
Zfp688	C	A	7: 127,018,483 (GRCm39)	C214F	probably damaging	Het
Zfp760	T	C	17: 21,941,655 (GRCm39)	S277P	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
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
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'- TCACTCTGGATGAGGTCTGGAC -3'
(R):5'- TGACTATATCTGTGGGCCCTCAC -3'

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

Posted On

2019-10-17