Mutagenetix > Incidental Mutation

Incidental Mutation 'R9410:Zfp189'

711741

Institutional Source

Beutler Lab

Gene Symbol

Zfp189

Ensembl Gene

ENSMUSG00000039634

Gene Name

zinc finger protein 189

Synonyms

C430015I23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49521176-49531517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49529942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 348 (H348Q)

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: H348Q

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: H348Q

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: H348Q

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: H348Q

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

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
Abcb5	G	A	12: 118,869,703 (GRCm39)	S772L	probably benign	Het
Ampd2	A	T	3: 107,982,590 (GRCm39)	V722E	probably damaging	Het
Appbp2	A	T	11: 85,106,067 (GRCm39)	F83Y	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
B020004C17Rik	A	T	14: 57,254,273 (GRCm39)	Y132F	possibly damaging	Het
Cnr1	A	G	4: 33,944,973 (GRCm39)	T454A	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctla4	A	T	1: 60,951,911 (GRCm39)	T147S	probably damaging	Het
Ctsa	T	C	2: 164,677,101 (GRCm39)	L152P	probably damaging	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dsg1a	A	T	18: 20,464,590 (GRCm39)	I362F	possibly damaging	Het
Dzank1	C	T	2: 144,324,050 (GRCm39)		probably null	Het
Ephb2	A	T	4: 136,386,948 (GRCm39)	C760S	probably null	Het
Exoc1	T	A	5: 76,706,989 (GRCm39)	V512E	probably benign	Het
Faiml	C	A	9: 99,111,587 (GRCm39)	K157N	probably benign	Het
Fpr2	C	T	17: 18,113,604 (GRCm39)	T200I	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Hcrtr1	A	T	4: 130,029,514 (GRCm39)	L189Q	probably damaging	Het
Igkv4-62	T	C	6: 69,376,832 (GRCm39)	T84A	probably benign	Het
Krtap2-4	C	A	11: 99,505,437 (GRCm39)	R58L	possibly damaging	Het
Meis1	C	T	11: 18,833,987 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,915,747 (GRCm39)	I422F	probably damaging	Het
Mre11a	G	A	9: 14,716,716 (GRCm39)	V304M	probably damaging	Het
Myo5a	A	G	9: 75,023,496 (GRCm39)	E19G	probably damaging	Het
Ndufa10	A	T	1: 92,367,614 (GRCm39)	Y339N	probably damaging	Het
Odad1	T	C	7: 45,597,821 (GRCm39)	V577A	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,615 (GRCm39)	P949L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plin4	A	G	17: 56,413,995 (GRCm39)	V210A	probably benign	Het
Rnf150	T	C	8: 83,762,722 (GRCm39)	M319T	possibly damaging	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Ruvbl2	G	A	7: 45,071,618 (GRCm39)	Q422*	probably null	Het
Shroom1	C	T	11: 53,354,217 (GRCm39)	R46C	probably damaging	Het
Slc22a2	T	C	17: 12,805,732 (GRCm39)	F161S	probably damaging	Het
Src	T	A	2: 157,311,676 (GRCm39)	M468K	probably damaging	Het
Stag3	T	C	5: 138,297,601 (GRCm39)	F606L	possibly damaging	Het
Stau1	T	C	2: 166,797,038 (GRCm39)	T120A	probably benign	Het
Sulf2	A	C	2: 165,936,444 (GRCm39)	L174R		Het
Sumf1	A	C	6: 108,150,363 (GRCm39)	F156C	probably damaging	Het
Tenm2	T	A	11: 36,032,396 (GRCm39)	D708V	probably damaging	Het
Tmprss12	A	C	15: 100,190,622 (GRCm39)	I331L	possibly damaging	Het
Tnfrsf10b	T	G	14: 70,010,849 (GRCm39)	C85G	probably damaging	Het
Trav10d	C	A	14: 53,048,845 (GRCm39)	Q79K	probably benign	Het
Vmn1r236	T	A	17: 21,507,756 (GRCm39)	Y291*	probably null	Het
Vmn2r115	T	C	17: 23,578,915 (GRCm39)	I796T	possibly damaging	Het
Zfp563	T	A	17: 33,321,320 (GRCm39)	L40Q	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
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
R9611:Zfp189	UTSW	4	49,530,058 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCAAGGCCCATTTCATTCAG -3'
(R):5'- TGAGCACTGACACTGAACGT -3'

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

Posted On

2022-05-16