Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Zfp352'

431736

Institutional Source

Beutler Lab

Gene Symbol

Zfp352

Ensembl Gene

ENSMUSG00000070902

Gene Name

zinc finger protein 352

Synonyms

2czf48

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90218820-90225702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90225104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 494 (P494T)

Ref Sequence

ENSEMBL: ENSMUSP00000102746 (fasta)

Gene Model

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

AlphaFold

A2AML7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080541
AA Change: P494T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: P494T

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

possibly damaging
Transcript: ENSMUST00000107129
AA Change: P494T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: P494T

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

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,853,942		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,184,863		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,058,776	I13F	unknown	Het
Acsbg2	A	C	17: 56,850,197	L309R	probably damaging	Het
Adam32	A	T	8: 24,922,312	M76K	probably damaging	Het
Adamts14	C	A	10: 61,230,443	R297L	probably damaging	Het
Agbl5	G	A	5: 30,893,903		probably null	Het
Asb14	A	G	14: 26,900,451	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,280,949	T276A	probably benign	Het
Cacna1d	G	A	14: 30,042,129	P2127S	probably benign	Het
Ces2g	A	G	8: 104,966,895	T403A	probably benign	Het
Cgn	A	C	3: 94,779,989	M1R	probably null	Het
Chd5	T	G	4: 152,376,630	S1226A	probably benign	Het
Col18a1	A	G	10: 77,058,724	V1497A	probably damaging	Het
Cpd	A	T	11: 76,797,901	Y848*	probably null	Het
Cyp2a12	T	C	7: 27,031,231	V207A	probably benign	Het
Cyth1	G	A	11: 118,182,767	R247W	probably benign	Het
Derl3	T	C	10: 75,894,490	V129A	possibly damaging	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Eml1	A	T	12: 108,521,376	I518L	probably damaging	Het
Eri1	A	G	8: 35,478,609	V174A	probably benign	Het
Fgd3	T	A	13: 49,277,577	I435F	probably damaging	Het
Foxd1	T	G	13: 98,355,904	S429A	unknown	Het
Ftcd	T	A	10: 76,589,331		probably benign	Het
Gm5478	G	T	15: 101,644,667	N323K	probably benign	Het
Gnpda1	G	T	18: 38,335,108	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,630,625		probably null	Het
Klrb1	T	C	6: 128,712,333		probably null	Het
Lcorl	C	A	5: 45,775,522		probably null	Het
Lcorl	T	A	5: 45,775,523		probably null	Het
Lrp1b	T	A	2: 41,110,888	K2108M	probably damaging	Het
Lyst	C	T	13: 13,746,779	P3437S	probably benign	Het
Macrod2	A	T	2: 142,317,943	M349L	possibly damaging	Het
March7	T	C	2: 60,245,303		probably benign	Het
Mcm9	A	T	10: 53,548,690	C601*	probably null	Het
Muc19	G	T	15: 91,894,393		noncoding transcript	Het
Mycbp2	T	C	14: 103,295,237	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,906,778	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Npas3	T	C	12: 54,068,938	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,139,765		probably null	Het
Olfr181	C	T	16: 58,925,809	C254Y	probably benign	Het
Olfr43	A	T	11: 74,206,583	L211Q	probably damaging	Het
Olfr44	C	T	9: 39,484,987	V89M	probably damaging	Het
Oosp3	T	C	19: 11,705,430	F56S	possibly damaging	Het
Plgrkt	G	A	19: 29,350,450	P78S	probably damaging	Het
Prss36	G	A	7: 127,934,465	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,318		probably null	Het
Qsox2	A	T	2: 26,217,687	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,563,868	E435*	probably null	Het
Shbg	T	C	11: 69,616,762	D163G	probably benign	Het
Skint7	T	A	4: 111,980,349	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,818,894	E5D	probably benign	Het
Spock1	C	T	13: 57,556,795	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,532,327	C700F	probably damaging	Het
Sult4a1	C	T	15: 84,089,958		probably null	Het
Syngap1	A	G	17: 26,957,152	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,560,253	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 19,008,195	S146P	probably damaging	Het
Ttn	C	T	2: 76,776,716	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 64,053,449		noncoding transcript	Het
Vps13c	T	C	9: 67,957,556	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,935,435	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,654,256	A216D	possibly damaging	Het
Zer1	C	G	2: 30,104,854	V510L	probably damaging	Het
Zfp28	A	T	7: 6,394,851		probably null	Het
Zfp353-ps	A	G	8: 42,082,563		noncoding transcript	Het
Zfp563	A	T	17: 33,102,541		probably null	Het
Zim1	T	C	7: 6,677,321	N448D	probably benign	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
R4931:Zfp352	UTSW	4	90224304	missense	probably damaging	0.98
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
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'- TCGGCTTCCAGTTTAGTCCAG -3'
(R):5'- CAGGGAAGATATTGTTTGTGGACAG -3'

Sequencing Primer
(F):5'- GCTTCCAGTTTAGTCCAGAGACAG -3'
(R):5'- ACAGTCAGGTTGCAGTGG -3'

Posted On

2016-10-05