Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Zfp113'

403472

Institutional Source

Beutler Lab

Gene Symbol

Zfp113

Ensembl Gene

ENSMUSG00000037007

Gene Name

zinc finger protein 113

Synonyms

4732456B05Rik

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138137964-138154006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138148977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 56 (D56N)

Ref Sequence

ENSEMBL: ENSMUSP00000127561 (fasta)

Gene Model

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

AlphaFold

Q8C689

Predicted Effect

probably damaging
Transcript: ENSMUST00000049393
AA Change: D56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041796
Gene: ENSMUSG00000037007
AA Change: D56N

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 damaging
Transcript: ENSMUST00000165640
AA Change: D56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127561
Gene: ENSMUSG00000037007
AA Change: D56N

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,107,947 (GRCm39)	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,863,705 (GRCm39)	V220A	probably benign	Het
Actg1	A	T	11: 120,238,580 (GRCm39)	M82K	probably damaging	Het
Ahi1	T	C	10: 20,835,975 (GRCm39)	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652 (GRCm39)	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,123,799 (GRCm39)	T507A	probably benign	Het
Atg7	A	G	6: 114,701,910 (GRCm39)	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,159,102 (GRCm39)	I783T	probably damaging	Het
Atp9a	T	C	2: 168,516,808 (GRCm39)	I362V	probably benign	Het
Birc6	T	A	17: 74,920,465 (GRCm39)	I168K	probably damaging	Het
Brca2	T	A	5: 150,466,445 (GRCm39)	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,688,873 (GRCm39)	I199T	probably damaging	Het
Cacng5	A	G	11: 107,768,315 (GRCm39)	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729 (GRCm39)	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,021,071 (GRCm39)	E481K	possibly damaging	Het
Cspg4b	G	A	13: 113,478,947 (GRCm39)	C1497Y	probably benign	Het
Ctr9	T	A	7: 110,644,665 (GRCm39)	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Fat3	T	C	9: 16,288,833 (GRCm39)	D230G	probably damaging	Het
Gramd4	G	A	15: 86,018,986 (GRCm39)		probably null	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Hoxd1	A	T	2: 74,594,695 (GRCm39)	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,346,757 (GRCm39)	S623P	probably benign	Het
Klhl20	A	G	1: 160,921,249 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,549,755 (GRCm39)	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mgll	T	A	6: 88,743,311 (GRCm39)	C110*	probably null	Het
Mmp14	A	G	14: 54,675,120 (GRCm39)	N251D	possibly damaging	Het
Or1e33	A	T	11: 73,738,262 (GRCm39)	S230T	probably damaging	Het
Or52k2	A	G	7: 102,254,028 (GRCm39)	T156A	probably benign	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Pfkl	T	G	10: 77,845,504 (GRCm39)	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,406,029 (GRCm39)	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,359,043 (GRCm39)	Y417*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sulf1	T	A	1: 12,867,098 (GRCm39)	M94K	probably benign	Het
Synrg	A	G	11: 83,873,022 (GRCm39)	T157A	probably damaging	Het
Syt1	T	C	10: 108,478,118 (GRCm39)	N102S	probably benign	Het
Tnip2	C	T	5: 34,661,149 (GRCm39)	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,070,048 (GRCm39)	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,181,090 (GRCm39)	D57G	probably benign	Het
Wnt2b	A	G	3: 104,868,661 (GRCm39)	L43P	possibly damaging	Het
Zfp184	C	T	13: 22,134,406 (GRCm39)	L69F	probably damaging	Het
Zyx	T	C	6: 42,333,466 (GRCm39)	V464A	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
R0898:Zfp113	UTSW	5	138,143,051 (GRCm39)	missense	probably benign	0.01
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
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'- AGCTTTCTAAGACCACACTGCC -3'
(R):5'- TGATGTCTCATTCAGTGCCC -3'

Sequencing Primer
(F):5'- TTTCTAAGACCACACTGCCACTAG -3'
(R):5'- TGCGAATCGGAGTTCAATCC -3'

Posted On

2016-07-22