Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Zfp114'

235664

Institutional Source

Beutler Lab

Gene Symbol

Zfp114

Ensembl Gene

ENSMUSG00000068962

Gene Name

zinc finger protein 114

Synonyms

MMRRC Submission

040172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24175060-24183188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24181084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 285 (T285I)

Ref Sequence

ENSEMBL: ENSMUSP00000146241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086010] [ENSMUST00000205309] [ENSMUST00000206547]

AlphaFold

B2RRA8

Predicted Effect

probably benign
Transcript: ENSMUST00000086010
AA Change: T286I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000083173
Gene: ENSMUSG00000068962
AA Change: T286I

Domain	Start	End	E-Value	Type
KRAB	8	68	1.38e-17	SMART
low complexity region	158	168	N/A	INTRINSIC
ZnF_C2H2	306	328	6.57e-1	SMART
ZnF_C2H2	334	356	1.95e-3	SMART
ZnF_C2H2	362	384	2.36e-2	SMART
ZnF_C2H2	390	412	3.16e-3	SMART
ZnF_C2H2	418	440	2.84e-5	SMART
ZnF_C2H2	446	468	4.87e-4	SMART
ZnF_C2H2	474	496	2.24e-3	SMART
ZnF_C2H2	502	524	7.37e-4	SMART
ZnF_C2H2	530	552	1.6e-4	SMART
ZnF_C2H2	558	580	2.36e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205309
AA Change: T285I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000206547
AA Change: T285I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,485,813	T606A	probably benign	Het
Adtrp	T	A	13: 41,767,429	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,099,340		probably null	Het
Arhgef5	A	T	6: 43,274,420	M702L	probably benign	Het
Axdnd1	A	G	1: 156,418,309	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,170,923	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,097	D761N	probably benign	Het
Ddx18	A	T	1: 121,558,409		probably null	Het
Fam241b	A	T	10: 62,109,966	I4N	probably damaging	Het
Fam69a	A	T	5: 107,909,459	L411*	probably null	Het
Gm5800	T	C	14: 51,713,678	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,734	V543A	probably damaging	Het
Hspa1l	A	G	17: 34,977,323	K113E	probably benign	Het
Hspb2	A	G	9: 50,751,715	I38T	probably damaging	Het
Htt	A	T	5: 34,877,475	E2021D	probably benign	Het
Lrpprc	C	T	17: 84,770,077	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,481,887	Y700H	probably damaging	Het
Mefv	A	G	16: 3,710,888	V593A	probably benign	Het
Mrgprh	C	T	17: 12,876,969	T32M	probably benign	Het
Mrpl18	A	G	17: 12,913,768		probably null	Het
Muc1	A	G	3: 89,231,596	E504G	probably damaging	Het
Ndufa13	G	A	8: 69,894,519	A77V	probably damaging	Het
Olfr952	A	G	9: 39,426,358	F238L	possibly damaging	Het
Pgbd5	T	A	8: 124,384,624		probably null	Het
Pgm5	T	A	19: 24,834,815	I118F	probably damaging	Het
Phyhip	T	C	14: 70,467,132	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,932,137	R176W	probably damaging	Het
Prkacb	C	T	3: 146,746,683		probably null	Het
Rab19	T	G	6: 39,384,041	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,715,395	Y234C	probably benign	Het
Slc26a5	T	C	5: 21,813,865	T659A	probably damaging	Het
Slc6a2	G	A	8: 92,994,101	V449I	probably benign	Het
Stab2	A	G	10: 86,887,862	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005	T713A	probably damaging	Het
Tmc6	A	T	11: 117,769,106	L732Q	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,735	K229*	probably null	Het
Xylt1	G	A	7: 117,667,437	G893R	probably damaging	Het
Ythdf1	A	T	2: 180,912,114	S69T	probably damaging	Het
Zfp458	T	C	13: 67,257,049	E439G	probably damaging	Het
Zfp65	G	A	13: 67,710,380	T55I	probably damaging	Het
Zmym1	C	T	4: 127,054,203		probably null	Het

Other mutations in Zfp114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03241:Zfp114	APN	7	24181012	missense	probably benign	0.14
R0139:Zfp114	UTSW	7	24181260	missense	possibly damaging	0.69
R1443:Zfp114	UTSW	7	24177769	missense	probably damaging	1.00
R1793:Zfp114	UTSW	7	24177739	splice site	probably null
R3928:Zfp114	UTSW	7	24181042	missense	possibly damaging	0.93
R4915:Zfp114	UTSW	7	24177865	missense	probably damaging	1.00
R6468:Zfp114	UTSW	7	24177781	missense	possibly damaging	0.94
R7102:Zfp114	UTSW	7	24180658	missense	possibly damaging	0.84
R7480:Zfp114	UTSW	7	24181882	missense	probably damaging	1.00
R7847:Zfp114	UTSW	7	24181035	missense	possibly damaging	0.67
R8677:Zfp114	UTSW	7	24180645	missense	probably benign	0.15
R9496:Zfp114	UTSW	7	24181038	missense	possibly damaging	0.89
R9619:Zfp114	UTSW	7	24180652	missense	probably benign	0.00
X0026:Zfp114	UTSW	7	24180405	missense	possibly damaging	0.92
X0061:Zfp114	UTSW	7	24180460	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCTACCAATGCAGCAAGGGC -3'
(R):5'- GATATGAAGTCCGACTGAAGCCC -3'

Sequencing Primer
(F):5'- CAGCAAGGGCCAAGAAGC -3'
(R):5'- GTGACAACTTTGTGAAGCCC -3'

Posted On

2014-10-01