Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Zfp143'

577469

Institutional Source

Beutler Lab

Gene Symbol

Zfp143

Ensembl Gene

ENSMUSG00000061079

Gene Name

zinc finger protein 143

Synonyms

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

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109660898-109694603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109669705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 45 (M45V)

Ref Sequence

ENSEMBL: ENSMUSP00000081778 (fasta)

Gene Model

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

AlphaFold

O70230

Predicted Effect

probably benign
Transcript: ENSMUST00000084727
AA Change: M45V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: M45V

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: M45V

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: M45V

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: M45V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000211798
AA Change: M45V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,360,186 (GRCm39)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,746,605 (GRCm39)	K1242E		Het
Alpi	T	A	1: 87,029,257 (GRCm39)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,329,982 (GRCm39)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm39)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,760,193 (GRCm39)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,420,634 (GRCm39)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,533,427 (GRCm39)	E671G	probably damaging	Het
Bmp3	A	T	5: 99,020,077 (GRCm39)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,072,105 (GRCm39)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,198,644 (GRCm39)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm39)	S1016T	possibly damaging	Het
Castor1	A	G	11: 4,171,897 (GRCm39)	S325G	not run	Het
Ccdc134	T	A	15: 82,025,149 (GRCm39)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,246,245 (GRCm39)	R559S	probably benign	Het
Cd276	T	C	9: 58,442,895 (GRCm39)	T187A	probably benign	Het
Ciao1	C	T	2: 127,087,678 (GRCm39)	R219H	probably damaging	Het
Clmn	T	C	12: 104,751,687 (GRCm39)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,206,225 (GRCm39)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,044,118 (GRCm39)	T117S	probably benign	Het
Cx3cr1	G	A	9: 119,881,282 (GRCm39)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,440,344 (GRCm39)	C72R	probably damaging	Het
Dab2	T	A	15: 6,451,747 (GRCm39)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,898,990 (GRCm39)	Y820C	probably damaging	Het
Dele1	A	G	18: 38,390,319 (GRCm39)	N256D	probably damaging	Het
Ech1	T	A	7: 28,525,623 (GRCm39)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,358,734 (GRCm39)	V25G	probably benign	Het
Fbp1	A	C	13: 63,020,564 (GRCm39)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,014,471 (GRCm39)	Y101H	unknown	Het
Fcsk	C	T	8: 111,616,963 (GRCm39)	G396S	possibly damaging	Het
Fhip1a	G	A	3: 85,579,871 (GRCm39)	S778L	probably benign	Het
Fmnl1	T	A	11: 103,077,453 (GRCm39)	V271E	probably damaging	Het
Galnt1	T	A	18: 24,417,866 (GRCm39)	S545T	probably benign	Het
Galnt13	G	A	2: 54,406,576 (GRCm39)	V9M	possibly damaging	Het
Gm7995	A	T	14: 42,132,302 (GRCm39)	I45F		Het
Gpr137	C	T	19: 6,917,726 (GRCm39)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,759,514 (GRCm39)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,784,457 (GRCm39)	Y324H	not run	Het
Hcn4	G	A	9: 58,751,582 (GRCm39)	E403K	unknown	Het
Hddc2	T	A	10: 31,189,412 (GRCm39)	M1K	probably null	Het
Hps3	A	G	3: 20,089,329 (GRCm39)	F34S	probably damaging	Het
Ift56	T	A	6: 38,381,422 (GRCm39)	Y319*	probably null	Het
Igdcc4	G	T	9: 65,031,276 (GRCm39)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,231,006 (GRCm39)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,742,339 (GRCm39)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,289,713 (GRCm39)	C260S	probably damaging	Het
Lhfpl6	A	G	3: 53,168,020 (GRCm39)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,699,439 (GRCm39)	D282G	probably benign	Het
Lrpprc	T	C	17: 85,079,567 (GRCm39)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,297,784 (GRCm39)	W86R	probably benign	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Magi2	G	A	5: 20,563,954 (GRCm39)	G199D	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Marchf7	T	A	2: 60,077,858 (GRCm39)		probably null	Het
Morc1	A	G	16: 48,251,708 (GRCm39)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm39)	F539L	probably damaging	Het
Muc13	A	T	16: 33,634,951 (GRCm39)	I502F	probably damaging	Het
Myh13	A	G	11: 67,255,286 (GRCm39)		probably null	Het
Nat10	C	G	2: 103,578,390 (GRCm39)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,354,885 (GRCm39)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,409,260 (GRCm39)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,815,389 (GRCm39)	M1L	unknown	Het
Or13d1	T	A	4: 52,971,207 (GRCm39)	N195K	probably damaging	Het
Or14a257	G	A	7: 86,138,417 (GRCm39)	T114I	probably damaging	Het
Or4f14	T	A	2: 111,742,637 (GRCm39)	I213L	probably benign	Het
Or8d1	C	A	9: 38,766,412 (GRCm39)	T18K	probably damaging	Het
Or8u8	T	C	2: 86,011,678 (GRCm39)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 37,079,266 (GRCm39)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,808,917 (GRCm39)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,719,631 (GRCm39)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,157,543 (GRCm39)	R2389H	probably damaging	Het
Pml	G	T	9: 58,154,496 (GRCm39)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,376,563 (GRCm39)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 66,147,936 (GRCm39)	V926A	probably damaging	Het
Psg29	A	G	7: 16,945,648 (GRCm39)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,092,864 (GRCm39)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Pttg1ip2	T	C	5: 5,505,952 (GRCm39)	I110V	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,122,178 (GRCm39)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,315,727 (GRCm39)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,719,847 (GRCm39)		probably null	Het
Rhobtb2	C	T	14: 70,033,397 (GRCm39)	W524*	probably null	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rims1	A	G	1: 22,474,699 (GRCm39)	S211P		Het
Ripor2	A	T	13: 24,854,054 (GRCm39)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,372,117 (GRCm39)	I4903V		Het
Robo3	T	A	9: 37,336,111 (GRCm39)	I452F	possibly damaging	Het
Rpl27rt	A	G	18: 34,870,580 (GRCm39)	K38R	probably damaging	Het
Seh1l	C	T	18: 67,916,988 (GRCm39)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,480,162 (GRCm39)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,106,763 (GRCm39)	C222*	probably null	Het
Skor1	A	G	9: 63,053,385 (GRCm39)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,259,642 (GRCm39)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,729,696 (GRCm39)	K217E	probably benign	Het
Socs7	C	A	11: 97,267,917 (GRCm39)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Spg11	T	C	2: 121,924,026 (GRCm39)		probably null	Het
Ssb	A	G	2: 69,693,624 (GRCm39)	T11A	probably benign	Het
Sun1	A	G	5: 139,232,589 (GRCm39)	S837G	probably damaging	Het
Szt2	A	C	4: 118,220,668 (GRCm39)	S3385A	unknown	Het
Tapbp	T	C	17: 34,139,391 (GRCm39)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,733,349 (GRCm39)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,530,589 (GRCm39)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,036,267 (GRCm39)	M343K	probably benign	Het
Trank1	C	A	9: 111,195,417 (GRCm39)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,773,757 (GRCm39)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,698,834 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,680,422 (GRCm39)	E1086G	unknown	Het
Ubr4	A	T	4: 139,189,778 (GRCm39)	M853L	unknown	Het
Ubxn11	A	T	4: 133,852,466 (GRCm39)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,656,219 (GRCm39)		probably benign	Het
Vmn2r107	C	T	17: 20,595,994 (GRCm39)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,546,248 (GRCm39)	L707I	probably benign	Het
Wwc1	G	A	11: 35,766,533 (GRCm39)	T574I	probably benign	Het
Zfp518a	T	A	19: 40,902,601 (GRCm39)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,665,163 (GRCm39)	M433K	probably benign	Het
Zfp873	C	A	10: 81,896,461 (GRCm39)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,116,110 (GRCm39)		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
IGL02505:Zfp143	APN	7	109,690,993 (GRCm39)	missense	possibly damaging	0.54
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
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

Predicted Primers

PCR Primer
(F):5'- CTGACCTTTTCAGTTTGGCTAG -3'
(R):5'- GGGCAGGCCAAAACTATCACTG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- ACTCCAAGAATCGTATTCAACACAG -3'

Posted On

2019-10-07