Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Zfp143'

635159

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

067614-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109660898-109694603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109676364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 249 (T249I)

Ref Sequence

ENSEMBL: ENSMUSP00000081778 (fasta)

Gene Model

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

AlphaFold

O70230

Predicted Effect

probably damaging
Transcript: ENSMUST00000084727
AA Change: T249I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: T249I

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 damaging
Transcript: ENSMUST00000169638
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: T221I

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 damaging
Transcript: ENSMUST00000209505
AA Change: T248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211798
AA Change: T248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Gpsm3	A	T	17: 34,809,451 (GRCm39)	D19V	probably benign	Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Scarf1	T	C	11: 75,413,065 (GRCm39)	M437T	probably benign	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Stac3	T	A	10: 127,344,068 (GRCm39)	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,769,838 (GRCm39)	S130R	probably benign	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	probably damaging	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
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
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'- AGGATGGTCTGAGTTATAGCTCATG -3'
(R):5'- TCCAGGCTCTTAAGAGAACAGAC -3'

Sequencing Primer
(F):5'- TCTGAGTTATAGCTCATGATCTGG -3'
(R):5'- GCTCTTAAGAGAACAGACAGTTGTTG -3'

Posted On

2020-07-13