Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:Zfp143'

594978

Institutional Source

Beutler Lab

Gene Symbol

Zfp143

Ensembl Gene

ENSMUSG00000061079

Gene Name

zinc finger protein 143

Synonyms

D7Ertd805e, KRAB14, pHZ-1, Staf, Zfp79, Zfp80-rs1

Accession Numbers

NCBI RefSeq: NM_009281.3; MGI:1277969

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110061217-110095394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110086220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 419 (C419G)

Ref Sequence

ENSEMBL: ENSMUSP00000081778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084727] [ENSMUST00000169638] [ENSMUST00000209505] [ENSMUST00000211798]

AlphaFold

O70230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084727
AA Change: C419G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: C419G

Domain	Start	End	E-Value	Type
ZnF_C2H2	236	260	5.5e-3	SMART
ZnF_C2H2	266	290	6.42e-4	SMART
ZnF_C2H2	296	320	4.01e-5	SMART
ZnF_C2H2	326	350	1.38e-3	SMART
ZnF_C2H2	356	380	3.95e-4	SMART
ZnF_C2H2	386	410	2.4e-3	SMART
ZnF_C2H2	416	439	1.79e-2	SMART
low complexity region	443	457	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169638
AA Change: C391G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: C391G

Domain	Start	End	E-Value	Type
ZnF_C2H2	209	233	5.5e-3	SMART
ZnF_C2H2	239	263	6.42e-4	SMART
ZnF_C2H2	269	293	4.01e-5	SMART
ZnF_C2H2	299	323	1.38e-3	SMART
ZnF_C2H2	329	353	3.95e-4	SMART
ZnF_C2H2	359	383	2.4e-3	SMART
ZnF_C2H2	389	412	1.79e-2	SMART
low complexity region	416	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209505
AA Change: C418G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000211798
AA Change: C418G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

Strain: 2678408
PHENOTYPE: Homozygous disruption of this locus results in fertility defects. [provided by MGI curators]

Allele List at MGI

All alleles(86) : Targeted(2) Gene trapped(84)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Zfp143

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Zfp143	APN	7	110091772	missense	probably damaging	0.99
IGL01610:Zfp143	APN	7	110074126	nonsense	probably null
IGL01678:Zfp143	APN	7	110080351	splice site	probably benign
IGL01734:Zfp143	APN	7	110072209	splice site	probably benign
IGL02505:Zfp143	APN	7	110091786	missense	possibly damaging	0.54
IGL02577:Zfp143	APN	7	110091907	missense	probably damaging	1.00
IGL03084:Zfp143	APN	7	110069611	splice site	probably benign
H8786:Zfp143	UTSW	7	110094368	missense	probably damaging	1.00
P0015:Zfp143	UTSW	7	110086111	critical splice acceptor site	probably null
R0324:Zfp143	UTSW	7	110077147	missense	possibly damaging	0.94
R0445:Zfp143	UTSW	7	110061117	unclassified	probably benign
R0668:Zfp143	UTSW	7	110061274	unclassified	probably benign
R1178:Zfp143	UTSW	7	110075721	splice site	probably benign
R1587:Zfp143	UTSW	7	110074068	missense	probably benign	0.06
R1992:Zfp143	UTSW	7	110061282	unclassified	probably benign
R2110:Zfp143	UTSW	7	110086246	missense	probably damaging	1.00
R2364:Zfp143	UTSW	7	110083242	missense	probably damaging	0.97
R2417:Zfp143	UTSW	7	110069596	missense	possibly damaging	0.73
R2899:Zfp143	UTSW	7	110072129	missense	probably damaging	1.00
R3923:Zfp143	UTSW	7	110074191	missense	probably damaging	1.00
R4117:Zfp143	UTSW	7	110091913	missense	probably damaging	0.97
R4804:Zfp143	UTSW	7	110088769	missense	probably damaging	1.00
R5048:Zfp143	UTSW	7	110074118	missense	probably damaging	0.99
R5097:Zfp143	UTSW	7	110088791	missense	probably damaging	1.00
R5239:Zfp143	UTSW	7	110094352	missense	probably damaging	1.00
R5541:Zfp143	UTSW	7	110070480	missense	probably benign	0.02
R5543:Zfp143	UTSW	7	110083315	nonsense	probably null
R5630:Zfp143	UTSW	7	110088773	missense	probably damaging	1.00
R5806:Zfp143	UTSW	7	110086235	nonsense	probably null
R6334:Zfp143	UTSW	7	110086131	missense	probably damaging	1.00
R6736:Zfp143	UTSW	7	110091814	missense	probably damaging	1.00
R7201:Zfp143	UTSW	7	110093080	missense	possibly damaging	0.74
R7448:Zfp143	UTSW	7	110070498	missense	probably benign	0.00
R7635:Zfp143	UTSW	7	110088818	missense	probably benign	0.37
R7943:Zfp143	UTSW	7	110072474	splice site	probably null
R8191:Zfp143	UTSW	7	110077157	missense	probably damaging	1.00
R8268:Zfp143	UTSW	7	110091784	missense	probably benign	0.27
R8368:Zfp143	UTSW	7	110083248	missense	probably damaging	0.96
R8724:Zfp143	UTSW	7	110081903	missense	probably benign	0.00
R8935:Zfp143	UTSW	7	110070529	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTGTGGAGTAACTTTGTCTAC -3'
(R):5'- CTGGTGTCTTTCTGCAGCAC -3'

Sequencing Primer
(F):5'- CTGTGGAGTAACTTTGTCTACCTATG -3'
(R):5'- GCAGCACTTGTCATGACTATAC -3'

Posted On

2019-11-12