Mutagenetix > Incidental Mutation

Incidental Mutation 'R8724:Zfp143'

662284

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

068573-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R8724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109660898-109694603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109681110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 318 (I318T)

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: I318T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: I318T

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: I290T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: I290T

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: I317T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000211798
AA Change: I317T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ank2	A	T	3: 126,737,405 (GRCm39)	D2826E	unknown	Het
Asb3	A	T	11: 31,051,120 (GRCm39)	I486F	probably damaging	Het
Atg4b	A	T	1: 93,696,023 (GRCm39)	Y54F	probably damaging	Het
Atp1a2	T	A	1: 172,106,945 (GRCm39)	I792F	probably benign	Het
Bltp1	G	A	3: 36,945,042 (GRCm39)	V334I	probably damaging	Het
Ccser1	A	C	6: 61,288,199 (GRCm39)	S121R	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cep120	A	T	18: 53,856,199 (GRCm39)	V406E	possibly damaging	Het
Ces2g	C	A	8: 105,692,955 (GRCm39)	A331D	probably benign	Het
Csnk1g2	G	A	10: 80,474,760 (GRCm39)	R299H	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dock10	T	G	1: 80,570,344 (GRCm39)	I371L	probably benign	Het
Dpp9	T	A	17: 56,512,867 (GRCm39)	T114S	probably benign	Het
Dusp13b	T	C	14: 21,796,475 (GRCm39)	R160G	probably benign	Het
Dync2i2	T	C	2: 29,923,961 (GRCm39)	D188G	probably benign	Het
Edem3	A	G	1: 151,651,624 (GRCm39)	K122R	possibly damaging	Het
Ehbp1l1	A	G	19: 5,765,886 (GRCm39)	S1486P	possibly damaging	Het
Elf3	A	G	1: 135,182,098 (GRCm39)	I361T	probably damaging	Het
Epha3	C	T	16: 63,403,818 (GRCm39)	C761Y	probably damaging	Het
Ephb2	A	G	4: 136,498,368 (GRCm39)	I237T	probably damaging	Het
Eya1	A	T	1: 14,279,206 (GRCm39)	D346E	probably benign	Het
Fat2	T	C	11: 55,173,786 (GRCm39)	Y2309C	probably damaging	Het
Fbn1	T	C	2: 125,202,066 (GRCm39)	D1269G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fnbp4	T	C	2: 90,577,097 (GRCm39)	V143A	probably damaging	Het
Foxo6	A	G	4: 120,144,109 (GRCm39)	I114T	probably damaging	Het
Gm6741	T	C	17: 91,544,564 (GRCm39)	I109T	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Hsf1	C	T	15: 76,381,999 (GRCm39)	S199L	probably damaging	Het
Htr3a	T	C	9: 48,815,981 (GRCm39)	N152S	probably damaging	Het
Ikzf2	T	A	1: 69,617,100 (GRCm39)	E82D	probably benign	Het
Kank2	T	G	9: 21,705,917 (GRCm39)	K367T	possibly damaging	Het
Kif20b	T	A	19: 34,916,146 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,931,335 (GRCm39)	V643I	probably benign	Het
Lipk	G	A	19: 33,996,120 (GRCm39)	V11M	probably benign	Het
Med4	T	A	14: 73,751,249 (GRCm39)	L66*	probably null	Het
Mtus1	T	C	8: 41,451,500 (GRCm39)	K379E	probably damaging	Het
Nat1	T	A	8: 67,944,443 (GRCm39)	I276N	probably damaging	Het
Nav2	G	A	7: 49,141,184 (GRCm39)	V910M	possibly damaging	Het
Or10ag53	T	A	2: 87,082,704 (GRCm39)	I141N	probably damaging	Het
Or4a80	A	T	2: 89,582,373 (GRCm39)	D266E	probably damaging	Het
Pcdh9	A	G	14: 94,124,583 (GRCm39)	V529A	probably benign	Het
Pcdhga7	C	T	18: 37,848,146 (GRCm39)	T51I	probably benign	Het
Pdcd1	A	G	1: 93,968,956 (GRCm39)	Y121H	probably damaging	Het
Pdia6	A	G	12: 17,333,982 (GRCm39)	D438G	unknown	Het
Pgm1	A	G	4: 99,786,964 (GRCm39)	T68A	probably benign	Het
Pik3c2g	G	A	6: 139,913,619 (GRCm39)	V1006I	unknown	Het
Plk4	C	T	3: 40,768,022 (GRCm39)	T855I	probably damaging	Het
Pnldc1	T	A	17: 13,111,703 (GRCm39)	N335Y	probably damaging	Het
Prkcq	C	T	2: 11,304,784 (GRCm39)	P658S	probably benign	Het
Rbl2	T	C	8: 91,841,837 (GRCm39)	I1011T	possibly damaging	Het
Rev1	A	C	1: 38,127,150 (GRCm39)	V370G	probably damaging	Het
Rtn4	A	G	11: 29,643,316 (GRCm39)	E43G	unknown	Het
Rtp2	C	T	16: 23,746,064 (GRCm39)	G189D	possibly damaging	Het
Ryr1	G	A	7: 28,816,802 (GRCm39)	A78V	probably benign	Het
Sel1l3	A	C	5: 53,293,165 (GRCm39)	Y850*	probably null	Het
Senp3	T	C	11: 69,564,419 (GRCm39)	Q547R	probably damaging	Het
Siglecf	T	C	7: 43,004,976 (GRCm39)	L402P	probably damaging	Het
Slc24a1	T	C	9: 64,855,453 (GRCm39)	I485V	probably benign	Het
Slc45a2	T	A	15: 11,012,610 (GRCm39)	H204Q	probably benign	Het
Slc9a4	T	G	1: 40,623,301 (GRCm39)	I180S	probably damaging	Het
Smyd1	T	A	6: 71,193,767 (GRCm39)	Y420F	probably damaging	Het
Sorcs1	A	G	19: 50,139,658 (GRCm39)	I1168T	probably benign	Het
Syne1	T	C	10: 5,033,861 (GRCm39)	E7737G	possibly damaging	Het
Trappc4	T	A	9: 44,316,560 (GRCm39)	H145L	probably benign	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h13	T	C	14: 75,569,512 (GRCm39)	V1453A	probably benign	Het
Zfp846	G	A	9: 20,505,352 (GRCm39)	R404H	possibly 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
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
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'- GATATCTGCCTAGGATTTGATTCTTCC -3'
(R):5'- AGGCCCAGATAATGACTCCTTTC -3'

Sequencing Primer
(F):5'- TCCCTAGGTTAATCTCCAAAAACATG -3'
(R):5'- CTCAGATTAAGAATTCCAGGCCTG -3'

Posted On

2021-03-08