Mutagenetix > Incidental Mutations

Incidental Mutation 'R2907:Zfp113'

261686

Institutional Source

Beutler Lab

Gene Symbol

Zfp113

Ensembl Gene

ENSMUSG00000037007

Gene Name

zinc finger protein 113

Synonyms

MMRRC Submission

040494-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R2907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138139702-138155744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138144957 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 344 (N344D)

Ref Sequence

ENSEMBL: ENSMUSP00000127561 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049393
AA Change: N344D

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041796
Gene: ENSMUSG00000037007
AA Change: N344D

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: N344D

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127561
Gene: ENSMUSG00000037007
AA Change: N344D

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

0.1242

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,567,297	E385G	probably damaging	Het
Adam32	A	T	8: 24,863,504	W690R	probably damaging	Het
Ap1b1	T	A	11: 5,031,641	N516K	probably damaging	Het
Arap3	G	A	18: 37,990,527	P452L	possibly damaging	Het
Armcx6	A	T	X: 134,749,450	C211S	probably damaging	Het
Asns	A	G	6: 7,675,506	S499P	probably benign	Het
Aspn	G	T	13: 49,551,898	V79F	probably damaging	Het
Astn2	A	G	4: 65,644,856	I844T	possibly damaging	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atp7b	G	A	8: 22,011,554	T781I	probably damaging	Het
Bcl6	G	A	16: 23,968,119	R641W	probably damaging	Het
Csmd3	T	A	15: 48,011,053	I612F	probably damaging	Het
Dnm1l	A	T	16: 16,314,311	S666T	probably damaging	Het
Gucy2c	A	T	6: 136,708,387	V852E	probably damaging	Het
H2-T3	G	A	17: 36,187,455	R233C	possibly damaging	Het
Igfbp4	A	G	11: 99,041,551		probably benign	Het
Igkv16-104	T	C	6: 68,425,927	I68T	probably damaging	Het
Kansl1	T	A	11: 104,424,460	S251C	possibly damaging	Het
Kcnk1	G	T	8: 125,995,799	V114L	probably benign	Het
Klra3	G	T	6: 130,333,339	Q73K	probably damaging	Het
Mcpt1	T	C	14: 56,020,123	V242A	probably damaging	Het
Nek10	C	A	14: 14,980,613	Q990K	possibly damaging	Het
Nlrp4d	A	T	7: 10,378,427	V605E	probably benign	Het
Olfr1176	T	C	2: 88,340,483	I306T	probably benign	Het
Olfr1437	T	C	19: 12,322,668	D53G	probably damaging	Het
Olfr1490	C	T	19: 13,655,247	P268S	possibly damaging	Het
Osbpl1a	A	G	18: 12,871,072		probably benign	Het
Otud4	T	A	8: 79,673,068	S803T	probably benign	Het
Pax9	C	T	12: 56,709,744	T289I	probably benign	Het
Pcdha5	A	C	18: 36,960,815	I126L	possibly damaging	Het
Psmd4	G	T	3: 95,033,962	A55E	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,142,834	T516S	probably benign	Het
Sdr42e1	G	A	8: 117,662,772	L377F	probably damaging	Het
Setdb1	T	C	3: 95,327,201		probably benign	Het
Uba3	T	C	6: 97,203,553	E21G	probably benign	Het
Uggt2	C	T	14: 119,019,507	S1105N	probably benign	Het
Zfp738	T	C	13: 67,670,112	I587V	probably benign	Het

Other mutations in Zfp113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03033:Zfp113	APN	5	138151196	splice site	probably benign
R0217:Zfp113	UTSW	5	138150691	missense	probably benign	0.01
R0733:Zfp113	UTSW	5	138145583	missense	probably benign	0.18
R0764:Zfp113	UTSW	5	138145244	missense	probably damaging	1.00
R0898:Zfp113	UTSW	5	138144789	missense	probably benign	0.01
R1591:Zfp113	UTSW	5	138151197	splice site	probably benign
R1623:Zfp113	UTSW	5	138145668	missense	probably benign	0.00
R4840:Zfp113	UTSW	5	138145425	missense	probably damaging	1.00
R4950:Zfp113	UTSW	5	138145472	missense	probably benign
R5216:Zfp113	UTSW	5	138150715	missense	probably damaging	1.00
R6084:Zfp113	UTSW	5	138145668	missense	probably benign	0.00
R6766:Zfp113	UTSW	5	138145346	nonsense	probably null
R8190:Zfp113	UTSW	5	138144996	missense	probably damaging	1.00
R8247:Zfp113	UTSW	5	138145034	missense	possibly damaging	0.95
R8266:Zfp113	UTSW	5	138150619	missense	probably damaging	1.00
X0020:Zfp113	UTSW	5	138144836	missense	probably damaging	1.00
X0022:Zfp113	UTSW	5	138145619	missense	possibly damaging	0.71
X0027:Zfp113	UTSW	5	138145713	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGGACGCAGGACATGAAG -3'
(R):5'- GCTTCACTGTGAATTCCAAACTTATTT -3'

Sequencing Primer
(F):5'- TGAATCCTCTGATGGCGAAC -3'
(R):5'- GTCAGAGCGCACATCTTATTCAG -3'

Posted On

2015-01-23