Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Zfp189'

617513

Institutional Source

Beutler Lab

Gene Symbol

Zfp189

Ensembl Gene

ENSMUSG00000039634

Gene Name

zinc finger protein 189

Synonyms

C430015I23Rik

MMRRC Submission

067462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49521176-49531517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49530312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 472 (G472R)

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: G472R

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

SMART Domains

Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: G472R

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: G472R

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

SMART Domains

Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: G472R

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 57,152,448 (GRCm39)	Y665H	probably damaging	Het
Acte1	T	C	7: 143,445,528 (GRCm39)	S192P	probably damaging	Het
Agbl4	T	A	4: 111,474,345 (GRCm39)	V378E	probably benign	Het
Card9	T	C	2: 26,247,327 (GRCm39)	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,533,847 (GRCm39)	S843A	unknown	Het
Cux1	T	A	5: 136,402,251 (GRCm39)	I111F	probably damaging	Het
Fam24b	A	C	7: 130,927,869 (GRCm39)	S107A	probably benign	Het
Fndc7	C	T	3: 108,774,461 (GRCm39)	C599Y	probably damaging	Het
Gm3604	G	A	13: 62,517,683 (GRCm39)	A225V	probably damaging	Het
Grhl3	A	G	4: 135,277,640 (GRCm39)	V475A	probably benign	Het
H2ac20	A	G	3: 96,128,106 (GRCm39)	S19P	unknown	Het
Heg1	T	A	16: 33,550,895 (GRCm39)	V958E	possibly damaging	Het
Hibch	T	C	1: 52,899,197 (GRCm39)	M30T	probably benign	Het
Hk2	T	A	6: 82,705,790 (GRCm39)	M838L	probably benign	Het
Hpd	A	G	5: 123,314,297 (GRCm39)	F206S	probably damaging	Het
Il34	C	T	8: 111,469,284 (GRCm39)	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,820,260 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,088,988 (GRCm39)	I2240T	probably damaging	Het
Med24	A	G	11: 98,609,321 (GRCm39)		probably null	Het
Mpz	A	G	1: 170,987,602 (GRCm39)	D246G	probably damaging	Het
Ncam1	C	A	9: 49,421,057 (GRCm39)	A753S	probably benign	Het
Ndufs2	A	T	1: 171,064,263 (GRCm39)	M375K	probably damaging	Het
Obox2	A	G	7: 15,131,145 (GRCm39)	K84E	possibly damaging	Het
Or4c31	A	G	2: 88,292,022 (GRCm39)	I132V	probably benign	Het
Or51k1	A	G	7: 103,661,006 (GRCm39)	I301T	probably damaging	Het
Or7e178	C	T	9: 20,225,545 (GRCm39)	V224I	probably benign	Het
Pds5a	A	T	5: 65,795,241 (GRCm39)	L665Q	probably damaging	Het
Prr29	A	G	11: 106,267,099 (GRCm39)	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688 (GRCm39)	D215E	probably benign	Het
Ptprq	G	A	10: 107,488,477 (GRCm39)	Q987*	probably null	Het
Ranbp6	T	C	19: 29,789,222 (GRCm39)	S377G	possibly damaging	Het
Rps6ka1	A	T	4: 133,594,506 (GRCm39)	L168Q	probably damaging	Het
Sall1	A	G	8: 89,759,171 (GRCm39)	I311T	probably damaging	Het
Satb2	T	C	1: 56,930,390 (GRCm39)	Y211C	probably damaging	Het
Sis	T	A	3: 72,859,813 (GRCm39)	Y314F	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,489,657 (GRCm39)	N129D	probably damaging	Het
Slu7	G	A	11: 43,336,975 (GRCm39)	R572Q	probably benign	Het
Tbx6	C	T	7: 126,382,031 (GRCm39)	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,877,579 (GRCm39)	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,439,224 (GRCm39)	D180G	probably benign	Het
Tln2	A	G	9: 67,131,346 (GRCm39)	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,863,571 (GRCm39)	T588A	probably benign	Het
Ttn	A	G	2: 76,769,564 (GRCm39)	V2741A	unknown	Het
Txlna	A	T	4: 129,533,278 (GRCm39)	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,488,272 (GRCm39)	Q382*	probably null	Het
Vmn2r76	A	G	7: 85,879,028 (GRCm39)	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,256,553 (GRCm39)	L1508I	probably damaging	Het
Zfp462	G	A	4: 55,073,106 (GRCm39)		probably null	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
R7800:Zfp189	UTSW	4	49,529,367 (GRCm39)	missense	possibly damaging	0.95
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'- AGTCGGAGCTCATTCCTTATTG -3'
(R):5'- CTGACAAGTAAAGGCTTCGC -3'

Sequencing Primer
(F):5'- GTAGAAGCTCAGGTCTCATTCAGC -3'
(R):5'- GCTGCGCTGTTGACTAAAAC -3'

Posted On

2020-01-23