Mutagenetix > Incidental Mutation

Incidental Mutation 'R0898:Zfp113'

83749

Institutional Source

Beutler Lab

Gene Symbol

Zfp113

Ensembl Gene

ENSMUSG00000037007

Gene Name

zinc finger protein 113

Synonyms

4732456B05Rik

MMRRC Submission

039058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138137964-138154006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138143051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 400 (S400G)

Ref Sequence

ENSEMBL: ENSMUSP00000127561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049393] [ENSMUST00000165640]

AlphaFold

Q8C689

Predicted Effect

probably benign
Transcript: ENSMUST00000049393
AA Change: S400G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000041796
Gene: ENSMUSG00000037007
AA Change: S400G

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC
KRAB	52	113	9.55e-21	SMART
ZnF_C2H2	201	223	8.47e-4	SMART
ZnF_C2H2	229	251	1.6e-4	SMART
ZnF_C2H2	257	279	1.28e-3	SMART
ZnF_C2H2	285	307	2.12e-4	SMART
ZnF_C2H2	313	335	5.59e-4	SMART
ZnF_C2H2	341	363	5.59e-4	SMART
ZnF_C2H2	369	391	1.26e-2	SMART
ZnF_C2H2	397	419	1.06e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165640
AA Change: S400G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127561
Gene: ENSMUSG00000037007
AA Change: S400G

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC
KRAB	52	113	9.55e-21	SMART
ZnF_C2H2	201	223	8.47e-4	SMART
ZnF_C2H2	229	251	1.6e-4	SMART
ZnF_C2H2	257	279	1.28e-3	SMART
ZnF_C2H2	285	307	2.12e-4	SMART
ZnF_C2H2	313	335	5.59e-4	SMART
ZnF_C2H2	341	363	5.59e-4	SMART
ZnF_C2H2	369	391	1.26e-2	SMART
ZnF_C2H2	397	419	1.06e-4	SMART

Meta Mutation Damage Score

0.1117

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	T	A	1: 134,351,814 (GRCm39)		probably null	Het
Apmap	A	G	2: 150,427,669 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,667,221 (GRCm39)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,075,254 (GRCm39)	A394V	probably benign	Het
Brpf3	A	G	17: 29,025,964 (GRCm39)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,383,055 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,373,153 (GRCm39)		probably benign	Het
Cpm	A	C	10: 117,512,011 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,344,679 (GRCm39)	Y117H	probably damaging	Het
Fam241b	A	G	10: 61,944,773 (GRCm39)	F98L	probably damaging	Het
Fmn2	G	A	1: 174,331,026 (GRCm39)	G472E	unknown	Het
Gcdh	T	C	8: 85,620,189 (GRCm39)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,866,290 (GRCm39)		noncoding transcript	Het
Gmeb1	T	C	4: 131,962,093 (GRCm39)	T189A	probably benign	Het
Iqck	G	A	7: 118,570,664 (GRCm39)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,904,490 (GRCm39)		probably benign	Het
Nabp1	T	C	1: 51,510,496 (GRCm39)	I169V	probably benign	Het
Or14j8	T	C	17: 38,263,127 (GRCm39)	T263A	probably benign	Het
Or8c20	G	A	9: 38,260,738 (GRCm39)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,026,111 (GRCm39)	I569V	probably benign	Het
Plcb1	A	T	2: 135,229,063 (GRCm39)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,366,806 (GRCm39)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,479,332 (GRCm39)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,248,864 (GRCm39)	T498A	probably benign	Het
Prkar2b	A	T	12: 32,013,001 (GRCm39)	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,246,880 (GRCm39)	N120S	probably benign	Het
Sbf2	C	T	7: 109,970,859 (GRCm39)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,069,370 (GRCm39)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,254,349 (GRCm39)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,744,075 (GRCm39)	T462A	probably damaging	Het
Sox11	T	C	12: 27,391,224 (GRCm39)	Y395C	probably damaging	Het
Taf2	T	C	15: 54,923,480 (GRCm39)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,621,132 (GRCm39)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,889,719 (GRCm39)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,282,207 (GRCm39)	P115S	probably damaging	Het
Trmt10a	C	T	3: 137,855,279 (GRCm39)	P139L	probably damaging	Het

Other mutations in Zfp113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03033:Zfp113	APN	5	138,149,458 (GRCm39)	splice site	probably benign
R0217:Zfp113	UTSW	5	138,148,953 (GRCm39)	missense	probably benign	0.01
R0733:Zfp113	UTSW	5	138,143,845 (GRCm39)	missense	probably benign	0.18
R0764:Zfp113	UTSW	5	138,143,506 (GRCm39)	missense	probably damaging	1.00
R1591:Zfp113	UTSW	5	138,149,459 (GRCm39)	splice site	probably benign
R1623:Zfp113	UTSW	5	138,143,930 (GRCm39)	missense	probably benign	0.00
R2907:Zfp113	UTSW	5	138,143,219 (GRCm39)	missense	probably benign	0.13
R4840:Zfp113	UTSW	5	138,143,687 (GRCm39)	missense	probably damaging	1.00
R4950:Zfp113	UTSW	5	138,143,734 (GRCm39)	missense	probably benign
R5216:Zfp113	UTSW	5	138,148,977 (GRCm39)	missense	probably damaging	1.00
R6084:Zfp113	UTSW	5	138,143,930 (GRCm39)	missense	probably benign	0.00
R6766:Zfp113	UTSW	5	138,143,608 (GRCm39)	nonsense	probably null
R8190:Zfp113	UTSW	5	138,143,258 (GRCm39)	missense	probably damaging	1.00
R8247:Zfp113	UTSW	5	138,143,296 (GRCm39)	missense	possibly damaging	0.95
R8266:Zfp113	UTSW	5	138,148,881 (GRCm39)	missense	probably damaging	1.00
R8933:Zfp113	UTSW	5	138,143,092 (GRCm39)	missense	probably damaging	1.00
R9664:Zfp113	UTSW	5	138,148,888 (GRCm39)	nonsense	probably null
X0020:Zfp113	UTSW	5	138,143,098 (GRCm39)	missense	probably damaging	1.00
X0022:Zfp113	UTSW	5	138,143,881 (GRCm39)	missense	possibly damaging	0.71
X0027:Zfp113	UTSW	5	138,143,975 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGGACGCAGGACATGAAGAA -3'
(R):5'- GGAAAAGCTCACCCATATTGGAGAAAGA -3'

Sequencing Primer
(F):5'- AAGAAAATAGTTTATGGCtctctctc -3'
(R):5'- ctccactctcactcaccac -3'

Posted On

2013-11-08