Mutagenetix > Incidental Mutation

Incidental Mutation 'R5522:Zfp189'

431596

Institutional Source

Beutler Lab

Gene Symbol

Zfp189

Ensembl Gene

ENSMUSG00000039634

Gene Name

zinc finger protein 189

Synonyms

C430015I23Rik

MMRRC Submission

043081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49521176-49531517 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 49529739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 281 (R281*)

Ref Sequence

ENSEMBL: ENSMUSP00000103324 (fasta)

Gene Model

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

AlphaFold

Q8BKP2

Predicted Effect

probably null
Transcript: ENSMUST00000042964
AA Change: R281*

SMART Domains

Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: R281*

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 null
Transcript: ENSMUST00000107696
AA Change: R281*

SMART Domains

Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: R281*

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: 99.0%
3x: 97.4%
10x: 93.9%
20x: 85.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,649,704 (GRCm39)	Y121H	possibly damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,731,671 (GRCm39)		probably null	Het
Cd69	A	T	6: 129,248,379 (GRCm39)	S36T	probably damaging	Het
Ceacam5	A	T	7: 17,449,005 (GRCm39)	I124L	probably benign	Het
Cerkl	T	C	2: 79,223,328 (GRCm39)	H131R	probably benign	Het
Cfap57	A	T	4: 118,453,085 (GRCm39)	N539K	probably benign	Het
Cyp4x1	C	A	4: 114,979,174 (GRCm39)	W141L	probably damaging	Het
Dlgap1	T	C	17: 70,823,993 (GRCm39)		probably null	Het
Dnaaf9	G	A	2: 130,656,222 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,296,954 (GRCm39)	I5781T	possibly damaging	Het
Epha2	T	A	4: 141,035,867 (GRCm39)	V101E	probably damaging	Het
Exph5	T	C	9: 53,285,613 (GRCm39)	F898S	possibly damaging	Het
Fyco1	G	A	9: 123,623,836 (GRCm39)	R1398*	probably null	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grb10	T	C	11: 11,886,746 (GRCm39)	I508V	probably benign	Het
Igf1r	C	A	7: 67,833,258 (GRCm39)	Q473K	probably damaging	Het
Ighv1-66	T	A	12: 115,556,755 (GRCm39)	D109V	probably damaging	Het
Ipmk	C	A	10: 71,199,304 (GRCm39)	T55K	probably benign	Het
Kdm2b	A	G	5: 123,087,225 (GRCm39)	Y192H	probably damaging	Het
Krt32	A	T	11: 99,977,497 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,620 (GRCm39)	L178Q	possibly damaging	Het
Mchr1	A	T	15: 81,122,211 (GRCm39)	K320N	possibly damaging	Het
Mdn1	T	C	4: 32,685,783 (GRCm39)	L858S	probably damaging	Het
Myo3a	T	A	2: 22,464,353 (GRCm39)	F198Y	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfatc1	T	C	18: 80,696,744 (GRCm39)	T647A	probably benign	Het
Nuf2	A	G	1: 169,326,453 (GRCm39)	Y433H	probably damaging	Het
Nup210l	T	C	3: 90,061,972 (GRCm39)	V717A	probably benign	Het
Or3a1b	A	G	11: 74,012,484 (GRCm39)	Y123C	probably damaging	Het
Or5h17	A	T	16: 58,820,268 (GRCm39)	L73F	probably benign	Het
Or6c35	A	T	10: 129,168,798 (GRCm39)	D16V	probably damaging	Het
Pbrm1	A	G	14: 30,811,520 (GRCm39)	Y1210C	probably damaging	Het
Pcdhb6	A	G	18: 37,467,402 (GRCm39)	I108V	probably benign	Het
Plac8	T	A	5: 100,710,584 (GRCm39)	T6S	probably benign	Het
Plbd1	A	T	6: 136,594,298 (GRCm39)	V317E	probably benign	Het
Rars1	A	T	11: 35,708,195 (GRCm39)	Y406*	probably null	Het
Scamp3	T	C	3: 89,084,929 (GRCm39)	F11L	possibly damaging	Het
Sctr	A	G	1: 119,964,146 (GRCm39)	N142S	probably benign	Het
Sh2d4a	T	C	8: 68,749,349 (GRCm39)	S128P	probably benign	Het
Snrnp70	C	T	7: 45,026,601 (GRCm39)		probably benign	Het
Taf3	T	C	2: 9,945,816 (GRCm39)	K596R	probably damaging	Het
Tango6	T	C	8: 107,422,230 (GRCm39)		probably null	Het
Taok3	A	G	5: 117,411,822 (GRCm39)	T414A	probably benign	Het
Tmem104	G	A	11: 115,079,149 (GRCm39)		probably null	Het
Tmem231	T	A	8: 112,645,042 (GRCm39)	S155C	possibly damaging	Het
Tssk3	G	A	4: 129,383,343 (GRCm39)	R110W	possibly damaging	Het
Ugt2b37	T	C	5: 87,388,759 (GRCm39)	T485A	probably benign	Het
Unc5b	T	C	10: 60,613,974 (GRCm39)	K292E	possibly damaging	Het
Upf3a	T	A	8: 13,845,497 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,229,918 (GRCm39)	V797E	probably damaging	Het
Vcan	T	C	13: 89,839,929 (GRCm39)	T1872A	possibly damaging	Het
Vmn1r195	A	G	13: 22,463,120 (GRCm39)	M197V	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Xab2	A	T	8: 3,661,718 (GRCm39)	D578E	probably benign	Het
Xpo7	A	T	14: 70,909,090 (GRCm39)	Y810*	probably null	Het
Zcchc2	A	G	1: 105,951,426 (GRCm39)	N587S	probably benign	Het
Zranb1	T	C	7: 132,585,678 (GRCm39)	*735R	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
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
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'- CGCAAGGCCCATTTCATTC -3'
(R):5'- AGCTCCGACTGAAACTCTTTC -3'

Sequencing Primer
(F):5'- AGGCCTTACCAGTGTAATCAGTG -3'
(R):5'- CGACTGAAACTCTTTCCACATTC -3'

Posted On

2016-10-05