Mutagenetix > Incidental Mutation

Incidental Mutation 'R6814:Zfp189'

533993

Institutional Source

Beutler Lab

Gene Symbol

Zfp189

Ensembl Gene

ENSMUSG00000039634

Gene Name

zinc finger protein 189

Synonyms

C430015I23Rik

MMRRC Submission

044926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49521176-49531517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49529026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 43 (N43I)

Ref Sequence

ENSEMBL: ENSMUSP00000103324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042964] [ENSMUST00000107696]

AlphaFold

Q8BKP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000042964
AA Change: N43I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: N43I

Domain	Start	End	E-Value	Type
KRAB	11	61	1.98e-4	SMART
ZnF_C2H2	130	152	1.58e-3	SMART
ZnF_C2H2	158	180	1.47e-3	SMART
ZnF_C2H2	186	208	1.84e-4	SMART
ZnF_C2H2	214	236	2.43e-4	SMART
ZnF_C2H2	242	264	2.61e-4	SMART
ZnF_C2H2	270	292	2.75e-3	SMART
ZnF_C2H2	298	320	1.56e-2	SMART
ZnF_C2H2	326	348	7.26e-3	SMART
ZnF_C2H2	354	376	1.72e-4	SMART
ZnF_C2H2	382	404	3.21e-4	SMART
ZnF_C2H2	438	460	3.95e-4	SMART
ZnF_C2H2	466	488	1.12e-3	SMART
ZnF_C2H2	494	516	1.18e-2	SMART
ZnF_C2H2	522	544	4.24e-4	SMART
ZnF_C2H2	550	572	2.79e-4	SMART
ZnF_C2H2	581	603	2.05e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107696
AA Change: N43I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: N43I

Domain	Start	End	E-Value	Type
KRAB	11	61	1.98e-4	SMART
ZnF_C2H2	130	152	1.58e-3	SMART
ZnF_C2H2	158	180	1.47e-3	SMART
ZnF_C2H2	186	208	1.84e-4	SMART
ZnF_C2H2	214	236	2.43e-4	SMART
ZnF_C2H2	242	264	2.61e-4	SMART
ZnF_C2H2	270	292	2.75e-3	SMART
ZnF_C2H2	298	320	1.56e-2	SMART
ZnF_C2H2	326	348	7.26e-3	SMART
ZnF_C2H2	354	376	1.72e-4	SMART
ZnF_C2H2	382	404	3.21e-4	SMART
ZnF_C2H2	438	460	3.95e-4	SMART
ZnF_C2H2	466	488	1.12e-3	SMART
ZnF_C2H2	494	516	1.18e-2	SMART
ZnF_C2H2	522	544	4.24e-4	SMART
ZnF_C2H2	550	572	2.79e-4	SMART
ZnF_C2H2	581	603	2.05e-2	SMART

Meta Mutation Damage Score

0.0991

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abca7	G	A	10: 79,838,833 (GRCm39)	V669I	probably damaging	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Afap1l1	A	T	18: 61,866,812 (GRCm39)	V749E	probably benign	Het
Arfgef3	A	G	10: 18,470,767 (GRCm39)	L1666S	probably damaging	Het
Atp2b1	A	G	10: 98,858,877 (GRCm39)	N284D	possibly damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Cit	G	A	5: 116,023,022 (GRCm39)	C283Y	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Cspg4	A	G	9: 56,797,624 (GRCm39)	I1363V	possibly damaging	Het
D2hgdh	C	A	1: 93,763,025 (GRCm39)	T270N	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Fam53a	T	C	5: 33,767,829 (GRCm39)	Y27C	probably benign	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nr1h4	T	C	10: 89,290,607 (GRCm39)	T474A	probably damaging	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Pigq	A	T	17: 26,150,630 (GRCm39)		probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Slc24a3	C	T	2: 145,458,630 (GRCm39)	Q537*	probably null	Het
Slc34a1	T	C	13: 24,006,372 (GRCm39)	I466T	possibly damaging	Het
Slc7a10	T	C	7: 34,894,689 (GRCm39)	V116A	probably damaging	Het
Taf15	T	A	11: 83,389,915 (GRCm39)	N228K	probably damaging	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp36l2	A	G	17: 84,493,521 (GRCm39)		probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het

Other mutations in Zfp189

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02075:Zfp189	APN	4	49,522,445 (GRCm39)	missense	probably damaging	0.98
R1754:Zfp189	UTSW	4	49,529,342 (GRCm39)	missense	possibly damaging	0.87
R1848:Zfp189	UTSW	4	49,529,266 (GRCm39)	missense	probably benign	0.01
R1868:Zfp189	UTSW	4	49,529,283 (GRCm39)	missense	possibly damaging	0.90
R1903:Zfp189	UTSW	4	49,529,511 (GRCm39)	nonsense	probably null
R2247:Zfp189	UTSW	4	49,530,393 (GRCm39)	missense	possibly damaging	0.95
R2889:Zfp189	UTSW	4	49,521,547 (GRCm39)	start gained	probably benign
R4389:Zfp189	UTSW	4	49,529,934 (GRCm39)	missense	probably damaging	1.00
R4659:Zfp189	UTSW	4	49,530,342 (GRCm39)	missense	probably benign	0.33
R4704:Zfp189	UTSW	4	49,530,081 (GRCm39)	missense	probably damaging	0.98
R4840:Zfp189	UTSW	4	49,529,984 (GRCm39)	missense	probably damaging	1.00
R4920:Zfp189	UTSW	4	49,529,302 (GRCm39)	missense	probably damaging	0.98
R5011:Zfp189	UTSW	4	49,530,438 (GRCm39)	missense	probably damaging	1.00
R5013:Zfp189	UTSW	4	49,530,438 (GRCm39)	missense	probably damaging	1.00
R5522:Zfp189	UTSW	4	49,529,739 (GRCm39)	nonsense	probably null
R5639:Zfp189	UTSW	4	49,530,153 (GRCm39)	missense	probably benign	0.01
R7372:Zfp189	UTSW	4	49,530,417 (GRCm39)	missense	possibly damaging	0.95
R7491:Zfp189	UTSW	4	49,521,569 (GRCm39)	missense	probably benign	0.06
R7680:Zfp189	UTSW	4	49,521,547 (GRCm39)	start gained	probably benign
R7800:Zfp189	UTSW	4	49,529,367 (GRCm39)	missense	possibly damaging	0.95
R8023:Zfp189	UTSW	4	49,530,312 (GRCm39)	missense	probably damaging	1.00
R8320:Zfp189	UTSW	4	49,530,180 (GRCm39)	missense	probably benign	0.00
R9225:Zfp189	UTSW	4	49,530,193 (GRCm39)	missense	probably benign
R9410:Zfp189	UTSW	4	49,529,942 (GRCm39)	missense	possibly damaging	0.95
R9611:Zfp189	UTSW	4	49,530,058 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAAGAGTTCAGGCCAGTCTAG -3'
(R):5'- GAGAGTCACGTGGTATTTCCC -3'

Sequencing Primer
(F):5'- GGCCAGTCTAGGAAATATATCTTGCC -3'
(R):5'- TGGTATTTCCCACAAAAAGATCC -3'

Posted On

2018-09-12