Mutagenetix > Incidental Mutation

Incidental Mutation 'R2016:Zfp352'

222990

Institutional Source

Beutler Lab

Gene Symbol

Zfp352

Ensembl Gene

ENSMUSG00000070902

Gene Name

zinc finger protein 352

Synonyms

2czf48

MMRRC Submission

040025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90107057-90113924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90113408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 516 (E516G)

Ref Sequence

ENSEMBL: ENSMUSP00000102746 (fasta)

Gene Model

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

AlphaFold

A2AML7

Predicted Effect

probably benign
Transcript: ENSMUST00000080541
AA Change: E516G

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: E516G

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 benign
Transcript: ENSMUST00000107129
AA Change: E516G

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: E516G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abca8a	A	G	11: 109,961,213 (GRCm39)	F570L	probably damaging	Het
Adck1	T	A	12: 88,427,862 (GRCm39)	I493N	probably damaging	Het
Adra2c	T	C	5: 35,437,656 (GRCm39)	C143R	probably damaging	Het
Afg2a	T	C	3: 37,632,911 (GRCm39)	V839A	possibly damaging	Het
Akap13	C	T	7: 75,354,279 (GRCm39)	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcam	G	A	7: 19,494,274 (GRCm39)	T374M	probably benign	Het
Blm	T	C	7: 80,155,674 (GRCm39)	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,215,331 (GRCm39)	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,152,856 (GRCm39)	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,921,133 (GRCm39)	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Ddr2	T	C	1: 169,812,537 (GRCm39)	M652V	probably damaging	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Efl1	A	C	7: 82,402,917 (GRCm39)	D673A	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Erap1	T	C	13: 74,812,270 (GRCm39)	W362R	probably damaging	Het
Fam234a	A	G	17: 26,437,290 (GRCm39)	F91L	probably benign	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Garin5b	A	T	7: 4,762,397 (GRCm39)	I244N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnl3	A	G	14: 30,738,326 (GRCm39)		probably null	Het
Has1	A	T	17: 18,068,532 (GRCm39)	I274N	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Itsn1	T	C	16: 91,702,389 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kif13a	T	C	13: 46,964,275 (GRCm39)	D475G	probably benign	Het
Klhl20	A	T	1: 160,930,608 (GRCm39)	M298K	probably damaging	Het
Kynu	G	T	2: 43,494,289 (GRCm39)	G241*	probably null	Het
Lrif1	G	T	3: 106,639,522 (GRCm39)	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,660,056 (GRCm39)	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,311,393 (GRCm39)	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Mettl25	T	A	10: 105,633,167 (GRCm39)	E425D	probably benign	Het
Midn	G	T	10: 79,985,949 (GRCm39)	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,777,713 (GRCm39)	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,817,187 (GRCm39)	V61M	probably damaging	Het
Nalcn	T	C	14: 123,831,993 (GRCm39)		probably null	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252 (GRCm39)	C595Y	probably damaging	Het
Or10d4	A	G	9: 39,580,851 (GRCm39)	Y166C	probably damaging	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or4l15	A	G	14: 50,197,959 (GRCm39)	I190T	probably benign	Het
Or5w1b	C	T	2: 87,476,396 (GRCm39)	V24M	probably benign	Het
Or8b1	A	T	9: 38,399,309 (GRCm39)		probably null	Het
Pds5a	T	A	5: 65,805,350 (GRCm39)		probably null	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,913,722 (GRCm39)	V244M	probably damaging	Het
Plk1	A	G	7: 121,761,663 (GRCm39)	K257R	probably damaging	Het
Prkcg	A	T	7: 3,372,066 (GRCm39)	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,894,156 (GRCm39)	H138Y	probably damaging	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Pwwp2b	A	T	7: 138,836,067 (GRCm39)	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Sall1	A	G	8: 89,755,037 (GRCm39)	V1314A	probably benign	Het
Sema6c	A	G	3: 95,078,545 (GRCm39)	I549V	probably benign	Het
Slc17a1	A	G	13: 24,062,522 (GRCm39)	S230G	probably benign	Het
Slc5a4a	T	G	10: 75,989,414 (GRCm39)	F106V	probably benign	Het
Stat6	T	C	10: 127,486,665 (GRCm39)	L147P	probably damaging	Het
Taar7d	T	A	10: 23,903,642 (GRCm39)	S175T	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tmem132b	A	G	5: 125,700,080 (GRCm39)	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,061 (GRCm39)	D231G	probably benign	Het
Trim66	A	G	7: 109,071,439 (GRCm39)		probably null	Het
Ttll9	A	T	2: 152,844,214 (GRCm39)	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,056,493 (GRCm39)	D548E	probably damaging	Het
Zcchc2	T	A	1: 105,931,851 (GRCm39)		probably null	Het
Zfp282	T	A	6: 47,874,721 (GRCm39)		probably null	Het

Other mutations in Zfp352

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Zfp352	APN	4	90,112,391 (GRCm39)	missense	possibly damaging	0.95
IGL02252:Zfp352	APN	4	90,112,367 (GRCm39)	missense	probably benign	0.02
IGL03156:Zfp352	APN	4	90,112,324 (GRCm39)	missense	possibly damaging	0.57
IGL03167:Zfp352	APN	4	90,112,939 (GRCm39)	missense	probably damaging	0.99
IGL03190:Zfp352	APN	4	90,111,994 (GRCm39)	missense	possibly damaging	0.94
IGL03335:Zfp352	APN	4	90,112,583 (GRCm39)	missense	probably damaging	0.99
R0051:Zfp352	UTSW	4	90,112,522 (GRCm39)	missense	probably damaging	0.99
R0403:Zfp352	UTSW	4	90,113,246 (GRCm39)	missense	possibly damaging	0.60
R0550:Zfp352	UTSW	4	90,112,927 (GRCm39)	missense	probably damaging	0.99
R0671:Zfp352	UTSW	4	90,112,156 (GRCm39)	missense	probably benign
R1034:Zfp352	UTSW	4	90,112,393 (GRCm39)	missense	possibly damaging	0.94
R1754:Zfp352	UTSW	4	90,112,046 (GRCm39)	missense	probably benign	0.23
R2064:Zfp352	UTSW	4	90,113,357 (GRCm39)	missense	probably benign	0.08
R2308:Zfp352	UTSW	4	90,113,480 (GRCm39)	missense	probably benign	0.00
R3552:Zfp352	UTSW	4	90,113,339 (GRCm39)	missense	probably benign	0.33
R3794:Zfp352	UTSW	4	90,113,386 (GRCm39)	missense	probably damaging	1.00
R3795:Zfp352	UTSW	4	90,113,386 (GRCm39)	missense	probably damaging	1.00
R4135:Zfp352	UTSW	4	90,113,261 (GRCm39)	missense	probably damaging	0.96
R4356:Zfp352	UTSW	4	90,112,071 (GRCm39)	missense	possibly damaging	0.91
R4409:Zfp352	UTSW	4	90,113,401 (GRCm39)	missense	probably benign	0.00
R4590:Zfp352	UTSW	4	90,112,772 (GRCm39)	missense	probably damaging	0.98
R4614:Zfp352	UTSW	4	90,113,318 (GRCm39)	missense	probably benign	0.00
R4617:Zfp352	UTSW	4	90,113,318 (GRCm39)	missense	probably benign	0.00
R4618:Zfp352	UTSW	4	90,113,318 (GRCm39)	missense	probably benign	0.00
R4741:Zfp352	UTSW	4	90,113,177 (GRCm39)	missense	possibly damaging	0.94
R4931:Zfp352	UTSW	4	90,112,541 (GRCm39)	missense	probably damaging	0.98
R4959:Zfp352	UTSW	4	90,112,376 (GRCm39)	missense	probably benign	0.01
R4973:Zfp352	UTSW	4	90,112,376 (GRCm39)	missense	probably benign	0.01
R5167:Zfp352	UTSW	4	90,112,453 (GRCm39)	missense	possibly damaging	0.94
R5260:Zfp352	UTSW	4	90,112,697 (GRCm39)	missense	probably damaging	0.99
R5524:Zfp352	UTSW	4	90,113,341 (GRCm39)	missense	possibly damaging	0.95
R5942:Zfp352	UTSW	4	90,113,307 (GRCm39)	missense	probably damaging	0.98
R6802:Zfp352	UTSW	4	90,113,437 (GRCm39)	missense	probably benign	0.33
R6819:Zfp352	UTSW	4	90,112,936 (GRCm39)	missense	probably benign
R7072:Zfp352	UTSW	4	90,112,661 (GRCm39)	missense	probably benign	0.00
R7099:Zfp352	UTSW	4	90,113,117 (GRCm39)	missense	probably benign	0.00
R7569:Zfp352	UTSW	4	90,111,896 (GRCm39)	missense	possibly damaging	0.77
R7645:Zfp352	UTSW	4	90,113,014 (GRCm39)	missense	probably benign	0.13
R7705:Zfp352	UTSW	4	90,113,512 (GRCm39)	missense	possibly damaging	0.94
R8424:Zfp352	UTSW	4	90,112,480 (GRCm39)	missense	possibly damaging	0.87
R9180:Zfp352	UTSW	4	90,113,118 (GRCm39)	missense	probably benign	0.38
R9378:Zfp352	UTSW	4	90,112,575 (GRCm39)	missense	probably benign	0.13
R9509:Zfp352	UTSW	4	90,112,943 (GRCm39)	missense	probably damaging	0.99
R9623:Zfp352	UTSW	4	90,113,128 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACCCTAGTCCTTTGAAGCTC -3'
(R):5'- TGGACAGATCAGGCACATAC -3'

Sequencing Primer
(F):5'- AGTCCTTTGAAGCTCTACTTTTGTAC -3'
(R):5'- CAGGCACATACATGTTACACAGTTTC -3'

Posted On

2014-08-25