Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Zfp143'

296292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp143

Ensembl Gene

ENSMUSG00000061079

Gene Name

zinc finger protein 143

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

109660898-109694603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109690993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 515 (M515L)

Ref Sequence

ENSEMBL: ENSMUSP00000148235 (fasta)

Gene Model

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

AlphaFold

O70230

Predicted Effect

probably benign
Transcript: ENSMUST00000084727
AA Change: M516L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: M516L

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

probably benign
Transcript: ENSMUST00000169638
AA Change: M488L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: M488L

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

noncoding transcript
Transcript: ENSMUST00000185931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209252

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209505
AA Change: M515L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211798
AA Change: M515L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Zfp143

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Zfp143	APN	7	109,690,979 (GRCm39)	missense	probably damaging	0.99
IGL01610:Zfp143	APN	7	109,673,333 (GRCm39)	nonsense	probably null
IGL01678:Zfp143	APN	7	109,679,558 (GRCm39)	splice site	probably benign
IGL01734:Zfp143	APN	7	109,671,416 (GRCm39)	splice site	probably benign
IGL02577:Zfp143	APN	7	109,691,114 (GRCm39)	missense	probably damaging	1.00
IGL03084:Zfp143	APN	7	109,668,818 (GRCm39)	splice site	probably benign
H8786:Zfp143	UTSW	7	109,693,575 (GRCm39)	missense	probably damaging	1.00
P0015:Zfp143	UTSW	7	109,685,318 (GRCm39)	critical splice acceptor site	probably null
R0324:Zfp143	UTSW	7	109,676,354 (GRCm39)	missense	possibly damaging	0.94
R0445:Zfp143	UTSW	7	109,660,324 (GRCm39)	unclassified	probably benign
R0668:Zfp143	UTSW	7	109,660,481 (GRCm39)	unclassified	probably benign
R1178:Zfp143	UTSW	7	109,674,928 (GRCm39)	splice site	probably benign
R1587:Zfp143	UTSW	7	109,673,275 (GRCm39)	missense	probably benign	0.06
R1992:Zfp143	UTSW	7	109,660,489 (GRCm39)	unclassified	probably benign
R2110:Zfp143	UTSW	7	109,685,453 (GRCm39)	missense	probably damaging	1.00
R2364:Zfp143	UTSW	7	109,682,449 (GRCm39)	missense	probably damaging	0.97
R2417:Zfp143	UTSW	7	109,668,803 (GRCm39)	missense	possibly damaging	0.73
R2899:Zfp143	UTSW	7	109,671,336 (GRCm39)	missense	probably damaging	1.00
R3923:Zfp143	UTSW	7	109,673,398 (GRCm39)	missense	probably damaging	1.00
R4117:Zfp143	UTSW	7	109,691,120 (GRCm39)	missense	probably damaging	0.97
R4804:Zfp143	UTSW	7	109,687,976 (GRCm39)	missense	probably damaging	1.00
R5048:Zfp143	UTSW	7	109,673,325 (GRCm39)	missense	probably damaging	0.99
R5097:Zfp143	UTSW	7	109,687,998 (GRCm39)	missense	probably damaging	1.00
R5239:Zfp143	UTSW	7	109,693,559 (GRCm39)	missense	probably damaging	1.00
R5541:Zfp143	UTSW	7	109,669,687 (GRCm39)	missense	probably benign	0.02
R5543:Zfp143	UTSW	7	109,682,522 (GRCm39)	nonsense	probably null
R5630:Zfp143	UTSW	7	109,687,980 (GRCm39)	missense	probably damaging	1.00
R5806:Zfp143	UTSW	7	109,685,442 (GRCm39)	nonsense	probably null
R6334:Zfp143	UTSW	7	109,685,338 (GRCm39)	missense	probably damaging	1.00
R6736:Zfp143	UTSW	7	109,691,021 (GRCm39)	missense	probably damaging	1.00
R7201:Zfp143	UTSW	7	109,692,287 (GRCm39)	missense	possibly damaging	0.74
R7448:Zfp143	UTSW	7	109,669,705 (GRCm39)	missense	probably benign	0.00
R7635:Zfp143	UTSW	7	109,688,025 (GRCm39)	missense	probably benign	0.37
R7717:Zfp143	UTSW	7	109,685,427 (GRCm39)	missense	possibly damaging	0.93
R7943:Zfp143	UTSW	7	109,671,681 (GRCm39)	splice site	probably null
R8191:Zfp143	UTSW	7	109,676,364 (GRCm39)	missense	probably damaging	1.00
R8268:Zfp143	UTSW	7	109,690,991 (GRCm39)	missense	probably benign	0.27
R8368:Zfp143	UTSW	7	109,682,455 (GRCm39)	missense	probably damaging	0.96
R8724:Zfp143	UTSW	7	109,681,110 (GRCm39)	missense	probably benign	0.00
R8935:Zfp143	UTSW	7	109,669,736 (GRCm39)	missense	probably damaging	1.00
R9665:Zfp143	UTSW	7	109,692,414 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16