Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Zfp114'

606680

Institutional Source

Beutler Lab

Gene Symbol

Zfp114

Ensembl Gene

ENSMUSG00000068962

Gene Name

zinc finger protein 114

Synonyms

MMRRC Submission

045901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23874485-23882613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23880460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 270 (Q270K)

Ref Sequence

ENSEMBL: ENSMUSP00000083173 (fasta)

Gene Model

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

AlphaFold

B2RRA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086010
AA Change: Q270K

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083173
Gene: ENSMUSG00000068962
AA Change: Q270K

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

possibly damaging
Transcript: ENSMUST00000205309
AA Change: Q269K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206547
AA Change: Q269K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,549 (GRCm39)	Y296N	probably benign	Het
Abcc4	T	C	14: 118,864,892 (GRCm39)	E378G	probably damaging	Het
Acp2	C	T	2: 91,041,077 (GRCm39)	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,770,193 (GRCm39)	C205Y	probably damaging	Het
Alg9	T	C	9: 50,700,905 (GRCm39)	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,511,828 (GRCm39)	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,252,069 (GRCm39)	S940*	probably null	Het
Asb15	C	A	6: 24,564,266 (GRCm39)	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc17	A	G	4: 116,457,103 (GRCm39)	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,597,185 (GRCm39)	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,192,256 (GRCm39)	S391P	probably benign	Het
Dock6	A	T	9: 21,712,503 (GRCm39)	L2086Q	unknown	Het
Ephx1	A	G	1: 180,829,426 (GRCm39)	S41P	probably benign	Het
Erbb3	G	A	10: 128,407,058 (GRCm39)	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,752,282 (GRCm39)	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,151,804 (GRCm39)	P52L	possibly damaging	Het
Herc2	T	C	7: 55,807,308 (GRCm39)		probably null	Het
Il17rb	A	G	14: 29,718,763 (GRCm39)	Y440H	probably damaging	Het
Kcng4	A	G	8: 120,352,881 (GRCm39)	L343P	probably damaging	Het
Knl1	G	A	2: 118,901,457 (GRCm39)	E1053K	probably benign	Het
Lipo4	A	T	19: 33,491,599 (GRCm39)	V128E	possibly damaging	Het
Lmntd2	T	C	7: 140,790,063 (GRCm39)	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,042,948 (GRCm39)	L460P	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mtcl1	T	C	17: 66,651,328 (GRCm39)	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,233,198 (GRCm39)	A256T	probably benign	Het
Mup17	T	A	4: 61,511,456 (GRCm39)	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nup210l	A	G	3: 90,058,430 (GRCm39)	M610V	probably benign	Het
Or10ak14	G	T	4: 118,611,565 (GRCm39)	H59N	possibly damaging	Het
Or7a38	T	A	10: 78,752,730 (GRCm39)	S19T	probably benign	Het
Or8g35	A	G	9: 39,381,801 (GRCm39)	S74P	probably benign	Het
Pard3b	A	G	1: 62,383,093 (GRCm39)	D729G	probably benign	Het
Phactr1	T	C	13: 43,210,664 (GRCm39)	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655 (GRCm39)	S762R	probably damaging	Het
Senp5	C	T	16: 31,808,991 (GRCm39)	V88I	probably benign	Het
Specc1l	T	C	10: 75,145,670 (GRCm39)	V1105A	probably damaging	Het
Trak2	A	C	1: 58,974,977 (GRCm39)	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,566,500 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,163,005 (GRCm39)	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,568,063 (GRCm39)	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,164,547 (GRCm39)	F2L	probably benign	Het
Xirp1	G	T	9: 119,848,819 (GRCm39)	D21E	possibly damaging	Het
Zfp341	T	C	2: 154,476,114 (GRCm39)	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,663,843 (GRCm39)	H237Q	probably benign	Het

Other mutations in Zfp114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03241:Zfp114	APN	7	23,880,437 (GRCm39)	missense	probably benign	0.14
R0139:Zfp114	UTSW	7	23,880,685 (GRCm39)	missense	possibly damaging	0.69
R1443:Zfp114	UTSW	7	23,877,194 (GRCm39)	missense	probably damaging	1.00
R1793:Zfp114	UTSW	7	23,877,164 (GRCm39)	splice site	probably null
R2169:Zfp114	UTSW	7	23,880,509 (GRCm39)	missense	probably benign	0.04
R3928:Zfp114	UTSW	7	23,880,467 (GRCm39)	missense	possibly damaging	0.93
R4915:Zfp114	UTSW	7	23,877,290 (GRCm39)	missense	probably damaging	1.00
R6468:Zfp114	UTSW	7	23,877,206 (GRCm39)	missense	possibly damaging	0.94
R7102:Zfp114	UTSW	7	23,880,083 (GRCm39)	missense	possibly damaging	0.84
R7480:Zfp114	UTSW	7	23,881,307 (GRCm39)	missense	probably damaging	1.00
R8677:Zfp114	UTSW	7	23,880,070 (GRCm39)	missense	probably benign	0.15
R9496:Zfp114	UTSW	7	23,880,463 (GRCm39)	missense	possibly damaging	0.89
R9619:Zfp114	UTSW	7	23,880,077 (GRCm39)	missense	probably benign	0.00
X0026:Zfp114	UTSW	7	23,879,830 (GRCm39)	missense	possibly damaging	0.92
X0061:Zfp114	UTSW	7	23,879,885 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGTTGCATTTCCCACCATAACAAC -3'
(R):5'- CGGCAGTGGATGTTGAGATC -3'

Sequencing Primer
(F):5'- GACTGTGGCAAAGTCATTTTTCCAG -3'
(R):5'- ATCTGAGGTGCGGCTGAAGC -3'

Posted On

2019-12-20