Mutagenetix > Incidental Mutation

Incidental Mutation 'R4931:Zfp352'

380547

Institutional Source

Beutler Lab

Gene Symbol

Zfp352

Ensembl Gene

ENSMUSG00000070902

Gene Name

zinc finger protein 352

Synonyms

2czf48

MMRRC Submission

042532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90218820-90225702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90224304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 227 (Y227C)

Ref Sequence

ENSEMBL: ENSMUSP00000102746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080541] [ENSMUST00000107129]

AlphaFold

A2AML7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080541
AA Change: Y227C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: Y227C

Domain	Start	End	E-Value	Type
ZnF_C2H2	459	483	3.34e-2	SMART
ZnF_C2H2	489	513	8.22e-2	SMART
ZnF_C2H2	519	542	1.76e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107129
AA Change: Y227C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: Y227C

Domain	Start	End	E-Value	Type
ZnF_C2H2	459	483	3.34e-2	SMART
ZnF_C2H2	489	513	8.22e-2	SMART
ZnF_C2H2	519	542	1.76e-1	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (78/82)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,938,120	D21G	probably benign	Het
4930402H24Rik	A	G	2: 130,741,873	F496L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,861,046	L68P	possibly damaging	Het
Ache	A	G	5: 137,291,914	I414V	probably benign	Het
Acy1	G	A	9: 106,433,191	H308Y	probably damaging	Het
AF529169	T	C	9: 89,601,652	H564R	probably benign	Het
Aldh1b1	A	C	4: 45,803,661	I400L	probably benign	Het
Ankrd40	T	A	11: 94,334,821	L226Q	probably benign	Het
B3gnt9	T	C	8: 105,254,244	T171A	probably benign	Het
Ccdc33	T	C	9: 58,069,851	Y289C	probably damaging	Het
Cd209f	A	T	8: 4,103,688	I187N	probably damaging	Het
Cers6	T	G	2: 69,105,112	S319A	probably damaging	Het
Chrna4	A	G	2: 181,028,872	S364P	probably benign	Het
Chrnb3	T	C	8: 27,394,230	S317P	probably damaging	Het
Dapk1	T	C	13: 60,760,960	V1129A	probably benign	Het
Dhx9	G	A	1: 153,472,673	P302L	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Duox2	T	C	2: 122,296,755	N147S	probably benign	Het
Dytn	T	G	1: 63,633,678	E522A	probably benign	Het
E130114P18Rik	T	C	4: 97,720,287	D27G	unknown	Het
Egf	A	G	3: 129,711,468	F118S	probably damaging	Het
Eif2d	T	A	1: 131,154,391	F73L	probably damaging	Het
Eps8l1	A	G	7: 4,471,241	E237G	possibly damaging	Het
Espl1	A	G	15: 102,305,730	E664G	probably benign	Het
Fbrsl1	A	T	5: 110,379,029	S373T	possibly damaging	Het
Fras1	T	A	5: 96,636,840	F894Y	probably benign	Het
Gm12800	T	C	4: 101,909,170	V17A	possibly damaging	Het
Gpatch8	T	C	11: 102,481,224	E496G	unknown	Het
Gucy1a2	A	G	9: 3,759,588	K465E	probably damaging	Het
Igdcc4	A	G	9: 65,124,015	T459A	possibly damaging	Het
Itgad	A	T	7: 128,204,625	I64F	probably damaging	Het
Itgb2l	T	A	16: 96,437,449	N50I	probably damaging	Het
Kif13a	A	G	13: 46,809,055	I478T	probably damaging	Het
Krt31	G	A	11: 100,050,157	T109I	probably benign	Het
Ltbr	G	T	6: 125,307,474		probably null	Het
Magel2	A	G	7: 62,380,624	D1092G	unknown	Het
Mindy3	A	T	2: 12,396,213	N231K	probably damaging	Het
Mpnd	T	G	17: 56,012,362		probably benign	Het
Mtus2	C	T	5: 148,077,416	L340F	probably benign	Het
Nanog	G	A	6: 122,707,906	A17T	possibly damaging	Het
Ndufa9	G	T	6: 126,836,320	A181E	probably damaging	Het
Olfr619	T	G	7: 103,604,374	L240R	probably benign	Het
Olfr869	A	T	9: 20,137,562	I149F	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,071,316		probably benign	Het
Prkacb	T	C	3: 146,747,977	I211V	possibly damaging	Het
Ptpn14	C	G	1: 189,851,277	L774V	probably benign	Het
Rad1	T	C	15: 10,492,762		probably benign	Het
Rims1	G	T	1: 22,533,947	P391Q	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sf3b3	C	T	8: 110,816,329	R832Q	probably benign	Het
Slc12a2	A	G	18: 57,934,963	D975G	possibly damaging	Het
Slitrk6	A	G	14: 110,750,379	L632P	probably damaging	Het
Spire2	A	G	8: 123,368,784	D542G	possibly damaging	Het
Sppl3	A	T	5: 115,082,314	Q95L	probably damaging	Het
Stat5b	C	A	11: 100,784,254	E710*	probably null	Het
Tcl1	G	T	12: 105,222,613	H14N	probably damaging	Het
Ten1	T	C	11: 116,205,729	F70L	probably benign	Het
Tnfrsf13b	A	T	11: 61,140,937	T35S	possibly damaging	Het
Tpcn2	G	A	7: 145,267,309	P336L	probably benign	Het
Trf	C	A	9: 103,228,048	D22Y	probably damaging	Het
Ttyh1	A	G	7: 4,133,944		probably benign	Het
Vmn2r103	A	T	17: 19,811,769	I602F	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zfp599	A	T	9: 22,258,123	W18R	probably damaging	Het

Other mutations in Zfp352

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Zfp352	APN	4	90224154	missense	possibly damaging	0.95
IGL02252:Zfp352	APN	4	90224130	missense	probably benign	0.02
IGL03156:Zfp352	APN	4	90224087	missense	possibly damaging	0.57
IGL03167:Zfp352	APN	4	90224702	missense	probably damaging	0.99
IGL03190:Zfp352	APN	4	90223757	missense	possibly damaging	0.94
IGL03335:Zfp352	APN	4	90224346	missense	probably damaging	0.99
R0051:Zfp352	UTSW	4	90224285	missense	probably damaging	0.99
R0403:Zfp352	UTSW	4	90225009	missense	possibly damaging	0.60
R0550:Zfp352	UTSW	4	90224690	missense	probably damaging	0.99
R0671:Zfp352	UTSW	4	90223919	missense	probably benign
R1034:Zfp352	UTSW	4	90224156	missense	possibly damaging	0.94
R1754:Zfp352	UTSW	4	90223809	missense	probably benign	0.23
R2016:Zfp352	UTSW	4	90225171	missense	probably benign	0.42
R2064:Zfp352	UTSW	4	90225120	missense	probably benign	0.08
R2308:Zfp352	UTSW	4	90225243	missense	probably benign	0.00
R3552:Zfp352	UTSW	4	90225102	missense	probably benign	0.33
R3794:Zfp352	UTSW	4	90225149	missense	probably damaging	1.00
R3795:Zfp352	UTSW	4	90225149	missense	probably damaging	1.00
R4135:Zfp352	UTSW	4	90225024	missense	probably damaging	0.96
R4356:Zfp352	UTSW	4	90223834	missense	possibly damaging	0.91
R4409:Zfp352	UTSW	4	90225164	missense	probably benign	0.00
R4590:Zfp352	UTSW	4	90224535	missense	probably damaging	0.98
R4614:Zfp352	UTSW	4	90225081	missense	probably benign	0.00
R4617:Zfp352	UTSW	4	90225081	missense	probably benign	0.00
R4618:Zfp352	UTSW	4	90225081	missense	probably benign	0.00
R4741:Zfp352	UTSW	4	90224940	missense	possibly damaging	0.94
R4959:Zfp352	UTSW	4	90224139	missense	probably benign	0.01
R4973:Zfp352	UTSW	4	90224139	missense	probably benign	0.01
R5167:Zfp352	UTSW	4	90224216	missense	possibly damaging	0.94
R5260:Zfp352	UTSW	4	90224460	missense	probably damaging	0.99
R5524:Zfp352	UTSW	4	90225104	missense	possibly damaging	0.95
R5942:Zfp352	UTSW	4	90225070	missense	probably damaging	0.98
R6802:Zfp352	UTSW	4	90225200	missense	probably benign	0.33
R6819:Zfp352	UTSW	4	90224699	missense	probably benign
R7072:Zfp352	UTSW	4	90224424	missense	probably benign	0.00
R7099:Zfp352	UTSW	4	90224880	missense	probably benign	0.00
R7569:Zfp352	UTSW	4	90223659	missense	possibly damaging	0.77
R7645:Zfp352	UTSW	4	90224777	missense	probably benign	0.13
R7705:Zfp352	UTSW	4	90225275	missense	possibly damaging	0.94
R8424:Zfp352	UTSW	4	90224243	missense	possibly damaging	0.87
R9180:Zfp352	UTSW	4	90224881	missense	probably benign	0.38
R9378:Zfp352	UTSW	4	90224338	missense	probably benign	0.13
R9509:Zfp352	UTSW	4	90224706	missense	probably damaging	0.99
R9623:Zfp352	UTSW	4	90224891	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGTGGGTCACGCCTTTGC -3'
(R):5'- CTGGTCACATCTGTAGCCTG -3'

Sequencing Primer
(F):5'- GCTTCTGAACATGACTGGACC -3'
(R):5'- CTGTAGCCTGATGTCTGATAACCAG -3'

Posted On

2016-04-15