Mutagenetix > Incidental Mutations

Incidental Mutation 'R0217:Zfp113'

33611

Institutional Source

Beutler Lab

Gene Symbol

Zfp113

Ensembl Gene

ENSMUSG00000037007

Gene Name

zinc finger protein 113

Synonyms

MMRRC Submission

038466-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0217 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

138139702-138155744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138150691 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 64 (R64G)

Ref Sequence

ENSEMBL: ENSMUSP00000127561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049393] [ENSMUST00000132318] [ENSMUST00000165640]

Predicted Effect

probably benign
Transcript: ENSMUST00000049393
AA Change: R64G

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

SMART Domains

Protein: ENSMUSP00000041796
Gene: ENSMUSG00000037007
AA Change: R64G

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: ENSMUST00000132318

SMART Domains

Protein: ENSMUSP00000116846
Gene: ENSMUSG00000037007

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144786

Predicted Effect

probably benign
Transcript: ENSMUST00000165640
AA Change: R64G

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

SMART Domains

Protein: ENSMUSP00000127561
Gene: ENSMUSG00000037007
AA Change: R64G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,407,413		probably benign	Het
Adamts13	A	G	2: 26,996,921		probably benign	Het
Afap1l1	A	G	18: 61,746,869	V310A	probably damaging	Het
Alms1	T	A	6: 85,622,930	S2048R	probably damaging	Het
Aspm	T	A	1: 139,457,880	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,300,430	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,713,098		probably benign	Het
Cdc23	T	C	18: 34,651,665	T15A	unknown	Het
Cdk19	C	T	10: 40,476,258		probably benign	Het
Comp	A	C	8: 70,378,908	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,343,466		probably benign	Het
Eci3	A	C	13: 34,948,089	S259A	probably benign	Het
Fcnb	T	C	2: 28,079,677	D126G	probably benign	Het
Foxk1	T	C	5: 142,401,894	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,968,034	Y61C	probably damaging	Het
Gm498	T	C	7: 143,894,219		probably benign	Het
Hmgcr	A	C	13: 96,651,980	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311	E100G	probably damaging	Het
Itgb2	G	T	10: 77,548,536		probably benign	Het
Jak2	T	A	19: 29,296,650		probably null	Het
Lrba	T	C	3: 86,642,722	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,617,037	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,256,975		probably null	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Megf8	T	A	7: 25,364,079	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,428,574		probably benign	Het
Olfr390	T	A	11: 73,787,388	V150E	possibly damaging	Het
Olfr491	C	A	7: 108,317,298	H135N	probably benign	Het
Olfr746	A	G	14: 50,654,095	N286S	probably damaging	Het
Pank3	T	A	11: 35,777,728	D181E	probably benign	Het
Pip5k1a	A	G	3: 95,073,991		probably null	Het
Plag1	A	C	4: 3,904,379	S271A	probably benign	Het
Plxna2	T	A	1: 194,644,598	I280N	probably damaging	Het
Polr1a	T	C	6: 71,963,703	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,920,735	D428E	probably damaging	Het
Prelid2	A	T	18: 41,935,252		probably benign	Het
Ptk2b	T	C	14: 66,156,381	Y881C	probably damaging	Het
Rptor	T	C	11: 119,894,912		probably benign	Het
Sbno1	T	C	5: 124,404,324		probably null	Het
Scaf4	T	C	16: 90,242,682	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,130,727	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,198,022	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,835,540	V201I	probably benign	Het
Slc6a13	T	A	6: 121,324,320	N189K	probably damaging	Het
Smco1	G	T	16: 32,273,781	R90L	possibly damaging	Het
Stim1	T	A	7: 102,435,800	M653K	probably benign	Het
Stxbp1	T	C	2: 32,801,870	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,559,132		noncoding transcript	Het
Tgtp1	A	C	11: 48,987,319	S186R	probably benign	Het
Trpc7	C	T	13: 56,789,768	W570*	probably null	Het
Trpv4	C	A	5: 114,634,661	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,378,800	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,637,020	V653E	probably damaging	Het
Zfp661	C	T	2: 127,577,291	E310K	probably damaging	Het
Zfp735	T	A	11: 73,711,286	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,212,664	L863P	probably damaging	Het
Zzef1	T	A	11: 72,889,068	I1889N	probably damaging	Het

Other mutations in Zfp113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03033:Zfp113	APN	5	138151196	splice site	probably benign
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
R2907:Zfp113	UTSW	5	138144957	missense	probably benign	0.13
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
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'- GCTTTCTAAGACCACACTGCCACT -3'
(R):5'- GCGCTTCTAAAGGCCAAGTCTCA -3'

Sequencing Primer
(F):5'- TAGCCAAGCCCGTAGCC -3'
(R):5'- gcagttatgttcatcactataccttc -3'

Posted On

2013-05-09