Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Zfp316'

171160

Institutional Source

Beutler Lab

Gene Symbol

Zfp316

Ensembl Gene

ENSMUSG00000046658

Gene Name

zinc finger protein 316

Synonyms

Emzf1

MMRRC Submission

039614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R1576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143235452-143255777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143249849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 138 (E138G)

Ref Sequence

ENSEMBL: ENSMUSP00000125416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051665] [ENSMUST00000161448]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000051665
AA Change: E138G

SMART Domains

Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: E138G

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161448
AA Change: E138G

SMART Domains

Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: E138G

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 23,298,483 (GRCm39)		probably benign	Het
Apol11a	T	A	15: 77,401,131 (GRCm39)	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,197,764 (GRCm39)	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,375,769 (GRCm39)	L75R	probably damaging	Het
Cfi	T	C	3: 129,666,699 (GRCm39)	V474A	probably damaging	Het
Dhx8	T	C	11: 101,643,145 (GRCm39)	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,495,798 (GRCm39)	H640L	probably benign	Het
Eif4g3	T	A	4: 137,824,181 (GRCm39)	M57K	probably damaging	Het
Emilin2	A	G	17: 71,562,112 (GRCm39)		probably null	Het
Epc1	T	C	18: 6,452,366 (GRCm39)	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,555,366 (GRCm39)	S1125I	probably damaging	Het
Fh1	G	A	1: 175,435,385 (GRCm39)	P366L	probably null	Het
Gata3	A	T	2: 9,868,007 (GRCm39)	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,532,992 (GRCm39)	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,597,407 (GRCm39)	T193S	probably benign	Het
Inpp5d	A	T	1: 87,609,280 (GRCm39)	I277F	probably damaging	Het
Itga5	T	C	15: 103,260,044 (GRCm39)	D616G	probably damaging	Het
Jade1	T	A	3: 41,546,242 (GRCm39)	V89E	probably damaging	Het
Lamb2	T	C	9: 108,357,506 (GRCm39)	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,527,590 (GRCm39)	P207L	probably damaging	Het
Maea	A	G	5: 33,520,040 (GRCm39)	D147G	probably damaging	Het
Muc6	T	A	7: 141,214,437 (GRCm39)	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,134,556 (GRCm39)	Y453C	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,681 (GRCm39)	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nudt21	A	C	8: 94,755,461 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,310 (GRCm39)	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,489,756 (GRCm39)	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,114,648 (GRCm39)	S28P	probably damaging	Het
Polr2j	C	A	5: 136,148,882 (GRCm39)	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,276,318 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,427,647 (GRCm39)	D742G	probably damaging	Het
Pum2	A	G	12: 8,763,524 (GRCm39)	D227G	probably benign	Het
Rfxank	C	A	8: 70,586,953 (GRCm39)	R221L	possibly damaging	Het
Shank3	C	A	15: 89,387,866 (GRCm39)	Q317K	probably benign	Het
Slc22a17	A	G	14: 55,145,447 (GRCm39)	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,450,361 (GRCm39)	D41E	probably damaging	Het
Spag17	T	C	3: 99,846,679 (GRCm39)	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,710,272 (GRCm39)	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,796,749 (GRCm39)	D339E	probably damaging	Het
Tagln2	A	G	1: 172,332,788 (GRCm39)	D25G	probably benign	Het
Ttn	C	T	2: 76,625,194 (GRCm39)	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568 (GRCm39)	E334G	possibly damaging	Het
Zfp879	T	A	11: 50,724,376 (GRCm39)	T227S	probably benign	Het

Other mutations in Zfp316

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Zfp316	APN	5	143,240,181 (GRCm39)	missense	probably benign	0.00
IGL01783:Zfp316	APN	5	143,248,631 (GRCm39)	missense	unknown
R0415:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R0423:Zfp316	UTSW	5	143,238,993 (GRCm39)	missense	probably damaging	0.98
R1579:Zfp316	UTSW	5	143,239,317 (GRCm39)	missense	probably damaging	0.97
R1836:Zfp316	UTSW	5	143,239,178 (GRCm39)	missense	probably damaging	1.00
R2058:Zfp316	UTSW	5	143,249,161 (GRCm39)	missense	unknown
R4004:Zfp316	UTSW	5	143,240,874 (GRCm39)	missense	possibly damaging	0.86
R4198:Zfp316	UTSW	5	143,240,226 (GRCm39)	missense	probably benign	0.05
R4436:Zfp316	UTSW	5	143,239,803 (GRCm39)	missense	probably damaging	1.00
R4961:Zfp316	UTSW	5	143,239,169 (GRCm39)	missense	probably damaging	0.98
R5579:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R5642:Zfp316	UTSW	5	143,249,846 (GRCm39)	missense	unknown
R5701:Zfp316	UTSW	5	143,240,132 (GRCm39)	missense	probably benign	0.08
R5795:Zfp316	UTSW	5	143,248,594 (GRCm39)	missense	unknown
R5861:Zfp316	UTSW	5	143,249,095 (GRCm39)	missense	unknown
R5965:Zfp316	UTSW	5	143,250,427 (GRCm39)	splice site	probably null
R6414:Zfp316	UTSW	5	143,240,639 (GRCm39)	missense	possibly damaging	0.71
R6547:Zfp316	UTSW	5	143,239,952 (GRCm39)	missense	probably damaging	1.00
R6922:Zfp316	UTSW	5	143,239,280 (GRCm39)	missense	probably damaging	0.98
R7002:Zfp316	UTSW	5	143,249,110 (GRCm39)	missense	unknown
R7361:Zfp316	UTSW	5	143,240,430 (GRCm39)	missense	probably benign	0.01
R7414:Zfp316	UTSW	5	143,250,407 (GRCm39)	missense	unknown
R7693:Zfp316	UTSW	5	143,249,167 (GRCm39)	missense	unknown
R8749:Zfp316	UTSW	5	143,248,565 (GRCm39)	missense	unknown
R9368:Zfp316	UTSW	5	143,250,046 (GRCm39)	critical splice donor site	probably null
R9471:Zfp316	UTSW	5	143,241,161 (GRCm39)	missense	unknown
R9670:Zfp316	UTSW	5	143,240,348 (GRCm39)	missense	possibly damaging	0.86
X0022:Zfp316	UTSW	5	143,240,811 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp316	UTSW	5	143,239,313 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTCCTCACTGATGAAGCACCACC -3'
(R):5'- TGGAAGCCAACTCAGCAGACAATG -3'

Sequencing Primer
(F):5'- ACCACCCATAGAGGGCTCG -3'
(R):5'- ggaggtgatgatgatgatgatgg -3'

Posted On

2014-04-13