Mutagenetix > Incidental Mutation

Incidental Mutation 'R7800:Zfp189'

600466

Institutional Source

Beutler Lab

Gene Symbol

Zfp189

Ensembl Gene

ENSMUSG00000039634

Gene Name

zinc finger protein 189

Synonyms

C430015I23Rik

MMRRC Submission

045855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49521176-49531517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49529367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 157 (P157S)

Ref Sequence

ENSEMBL: ENSMUSP00000103324 (fasta)

Gene Model

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

AlphaFold

Q8BKP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042964
AA Change: P157S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: P157S

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

possibly damaging
Transcript: ENSMUST00000107696
AA Change: P157S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: P157S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,078,698 (GRCm39)	D1264G	probably benign	Het
Ace	T	C	11: 105,876,884 (GRCm39)	F1122S	probably damaging	Het
Actr10	T	G	12: 70,990,283 (GRCm39)	Y112D	probably benign	Het
Cacnb1	T	G	11: 97,900,121 (GRCm39)	I346L	possibly damaging	Het
Camsap2	T	C	1: 136,209,639 (GRCm39)	T607A	probably damaging	Het
Cby3	T	C	11: 50,250,175 (GRCm39)	F32S	probably damaging	Het
Cers5	G	T	15: 99,634,122 (GRCm39)	H409N	probably benign	Het
Ces1h	A	T	8: 94,106,322 (GRCm39)	L11H		Het
Clcnkb	T	C	4: 141,141,833 (GRCm39)	Y51C	probably benign	Het
Cnnm2	A	G	19: 46,866,420 (GRCm39)	E856G	probably benign	Het
Cnot1	A	G	8: 96,491,690 (GRCm39)	V378A	probably benign	Het
Crisp4	A	C	1: 18,198,973 (GRCm39)	S154A	probably benign	Het
Disp1	C	T	1: 182,880,550 (GRCm39)	R241Q	probably benign	Het
Ermard	G	A	17: 15,277,065 (GRCm39)	R429H	probably benign	Het
Extl1	C	T	4: 134,098,929 (GRCm39)	G34D	probably benign	Het
Gen1	T	C	12: 11,291,863 (GRCm39)	D707G	probably benign	Het
H1f3	C	A	13: 23,739,541 (GRCm39)	T93N	possibly damaging	Het
Igkv5-37	A	C	6: 69,940,499 (GRCm39)	S48R	possibly damaging	Het
Ilvbl	C	T	10: 78,419,809 (GRCm39)	A571V	possibly damaging	Het
Itgb1	A	G	8: 129,439,718 (GRCm39)	K136E	possibly damaging	Het
Lhx8	A	G	3: 154,027,284 (GRCm39)	F253L	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Nr3c2	A	G	8: 77,636,621 (GRCm39)	Y574C	probably damaging	Het
Nrxn1	C	T	17: 91,396,635 (GRCm39)		probably benign	Het
Ntrk3	T	A	7: 77,952,488 (GRCm39)	R576S	probably benign	Het
Nup210l	A	G	3: 90,041,904 (GRCm39)	Y403C	probably damaging	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or8b53	T	G	9: 38,667,914 (GRCm39)	L310W	probably damaging	Het
Otogl	T	A	10: 107,722,376 (GRCm39)	Y326F	probably damaging	Het
Pcdha1	T	A	18: 37,064,426 (GRCm39)	D363E	probably damaging	Het
Pcdhb3	T	A	18: 37,434,974 (GRCm39)	N313K	probably benign	Het
Pcdhb9	A	C	18: 37,534,602 (GRCm39)	S199R	probably benign	Het
Pde4dip	C	T	3: 97,622,599 (GRCm39)	D1537N	probably damaging	Het
Pinx1	A	G	14: 64,156,984 (GRCm39)	K304E	probably benign	Het
Pnlip	T	C	19: 58,670,134 (GRCm39)	V458A	probably benign	Het
Polr3a	C	A	14: 24,534,455 (GRCm39)	M60I	probably null	Het
Qrich2	G	T	11: 116,347,686 (GRCm39)	S1046*	probably null	Het
Rigi	T	C	4: 40,211,618 (GRCm39)	E650G	probably benign	Het
Rps6ka5	G	A	12: 100,524,824 (GRCm39)	P638S	probably damaging	Het
Slc6a13	T	A	6: 121,298,658 (GRCm39)	N158K	probably damaging	Het
Sord	T	C	2: 122,089,561 (GRCm39)	V187A	probably damaging	Het
Sult2a2	A	G	7: 13,468,710 (GRCm39)	T59A	probably benign	Het
Thbs2	T	C	17: 14,896,558 (GRCm39)	D777G	probably damaging	Het
Tmed9	A	G	13: 55,743,345 (GRCm39)	D159G	probably benign	Het
Trbc1	A	G	6: 41,516,195 (GRCm39)	I142V		Het
Usp17ld	A	G	7: 102,900,041 (GRCm39)	V297A	probably damaging	Het
Vmn1r167	A	T	7: 23,204,069 (GRCm39)	*316R	probably null	Het
Wdr59	C	A	8: 112,248,570 (GRCm39)	R15L		Het
Zfp407	C	T	18: 84,578,800 (GRCm39)	G771D	probably damaging	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
R6814:Zfp189	UTSW	4	49,529,026 (GRCm39)	missense	probably damaging	0.99
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
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'- AATACCACGTGACTCTCTGAGTG -3'
(R):5'- ATGAGCTCCGACTGAAACTC -3'

Sequencing Primer
(F):5'- CACGTGACTCTCTGAGTGAGGAAC -3'
(R):5'- CCACAGTCACTGCATTTATGGGG -3'

Posted On

2019-11-26