Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Zfp114'

661445

Institutional Source

Beutler Lab

Gene Symbol

Zfp114

Ensembl Gene

ENSMUSG00000068962

Gene Name

zinc finger protein 114

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24175060-24183188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24180645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 140 (N140D)

Ref Sequence

ENSEMBL: ENSMUSP00000083173 (fasta)

Gene Model

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

AlphaFold

B2RRA8

Predicted Effect

probably benign
Transcript: ENSMUST00000086010
AA Change: N140D

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000083173
Gene: ENSMUSG00000068962
AA Change: N140D

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: N139D

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000206547
AA Change: N139D

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,595,471	D474G	probably benign	Het
1190007I07Rik	G	T	10: 82,620,216	T37K	possibly damaging	Het
2610507B11Rik	C	T	11: 78,284,156	R1706C	probably damaging	Het
Acd	A	C	8: 105,700,944	S25R	probably damaging	Het
Acly	A	T	11: 100,519,743	H136Q	probably damaging	Het
Adrm1	C	T	2: 180,172,039	T2M	probably benign	Het
Ankrd12	A	T	17: 66,024,214	L246M	probably damaging	Het
Cacnb3	T	C	15: 98,642,050	L258P	probably damaging	Het
Ccdc129	A	G	6: 55,872,594	H37R	probably benign	Het
Cd36	C	T	5: 17,820,495	V76M	probably damaging	Het
Cep120	A	G	18: 53,738,561	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,290,585		probably null	Het
Col17a1	T	C	19: 47,651,801	T1042A	probably benign	Het
Comp	A	T	8: 70,380,260	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272	L653P	probably benign	Het
Cx3cl1	G	T	8: 94,779,815	R149S	probably benign	Het
Dbndd2	T	A	2: 164,488,602	N58K	probably damaging	Het
Dclk1	A	G	3: 55,502,419	I595V	probably damaging	Het
Dhx15	T	C	5: 52,184,544	D144G	probably benign	Het
Dlat	T	C	9: 50,658,707	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,220,315	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,457,027	V778D	probably benign	Het
Grn	T	C	11: 102,433,567	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,110,414	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,724,785	I317V	probably benign	Het
Heca	T	C	10: 17,915,676	N211D	probably benign	Het
Htr1f	T	C	16: 64,926,051	T293A	possibly damaging	Het
Ifitm10	T	A	7: 142,356,012	I116F	probably benign	Het
Ivl	A	T	3: 92,572,679	D26E	probably benign	Het
Kcnma1	T	A	14: 23,386,350	E761V	probably benign	Het
Ltbp1	G	T	17: 75,348,758	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,923,809	F32L	probably benign	Het
Micu2	T	C	14: 57,923,963	R301G	possibly damaging	Het
Miip	C	T	4: 147,863,046	C219Y	probably damaging	Het
Mn1	T	A	5: 111,419,019	L285*	probably null	Het
Mthfd1l	T	A	10: 4,048,250	N664K	possibly damaging	Het
Mttp	A	T	3: 138,104,676	H659Q	probably benign	Het
Myadml2	G	A	11: 120,647,989	P7S	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,072,645	T645I	probably damaging	Het
Notch1	C	T	2: 26,469,924	V1260I	probably damaging	Het
Numa1	T	C	7: 102,000,941	L1293P	probably damaging	Het
Olfr403	A	T	11: 74,195,589	I29F	probably benign	Het
Olfr684	A	G	7: 105,157,568	L38P	probably benign	Het
Pcdh12	G	T	18: 38,282,138	H645N	probably benign	Het
Pdcd1	A	T	1: 94,041,227	L122H	probably damaging	Het
Pknox2	G	A	9: 36,910,591	P246L	probably damaging	Het
Polr2a	A	T	11: 69,735,555	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Proser1	A	G	3: 53,477,701	T335A	probably benign	Het
Ptprc	A	G	1: 138,083,597	I598T	probably damaging	Het
Rasal3	T	C	17: 32,396,854	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,512,060	T415S	probably benign	Het
Rbm7	T	A	9: 48,489,973	R152*	probably null	Het
Sf3b2	C	T	19: 5,286,229	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,386,671	S214P	probably benign	Het
Spam1	A	G	6: 24,796,985	T312A	probably benign	Het
Ssh2	A	G	11: 77,455,193	T1335A	possibly damaging	Het
Tef	T	A	15: 81,814,968	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,928,702	V700G	probably damaging	Het
Twsg1	A	G	17: 65,926,407	S183P	probably damaging	Het
Unc13c	T	C	9: 73,932,961	T203A	probably benign	Het
Vmn2r75	G	T	7: 86,165,202	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,516,634	N3073I	probably damaging	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
R2169:Zfp114	UTSW	7	24181084	missense	probably benign	0.04
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
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'- TGACAAGCCATGATGCCAAC -3'
(R):5'- TGACTTTGCCACAGTCACCAC -3'

Sequencing Primer
(F):5'- ACAAACTGGCCGGAGCTC -3'
(R):5'- CACTGCTGTGGGCTTTGTCTC -3'

Posted On

2021-03-08