Mutagenetix > Incidental Mutation

Incidental Mutation 'R4326:Zfp184'

324377

Institutional Source

Beutler Lab

Gene Symbol

Zfp184

Ensembl Gene

ENSMUSG00000006720

Gene Name

zinc finger protein 184 (Kruppel-like)

Synonyms

MMRRC Submission

041096-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R4326 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21945094-21960779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21959902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 593 (Y593H)

Ref Sequence

ENSEMBL: ENSMUSP00000135173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006903] [ENSMUST00000102978] [ENSMUST00000176511] [ENSMUST00000176580]

AlphaFold

Q7TSH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000006903
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: Y593H

Domain	Start	End	E-Value	Type
KRAB	28	88	1.14e-36	SMART
ZnF_C2H2	201	223	5.42e-2	SMART
ZnF_C2H2	229	251	1.22e-4	SMART
ZnF_C2H2	257	279	2.09e-3	SMART
ZnF_C2H2	285	307	5.29e-5	SMART
ZnF_C2H2	313	335	8.6e-5	SMART
ZnF_C2H2	341	363	1.28e-3	SMART
ZnF_C2H2	369	391	1.12e-3	SMART
ZnF_C2H2	397	419	1.84e-4	SMART
ZnF_C2H2	425	447	2.4e-3	SMART
ZnF_C2H2	453	475	4.79e-3	SMART
ZnF_C2H2	481	503	3.69e-4	SMART
ZnF_C2H2	509	531	7.37e-4	SMART
ZnF_C2H2	537	559	6.88e-4	SMART
ZnF_C2H2	565	587	2.43e-4	SMART
ZnF_C2H2	593	615	2.75e-3	SMART
ZnF_C2H2	621	643	5.99e-4	SMART
ZnF_C2H2	649	671	8.94e-3	SMART
ZnF_C2H2	679	698	4.27e1	SMART
ZnF_C2H2	704	726	1.23e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102978
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: Y593H

Domain	Start	End	E-Value	Type
KRAB	28	88	1.14e-36	SMART
ZnF_C2H2	201	223	5.42e-2	SMART
ZnF_C2H2	229	251	1.22e-4	SMART
ZnF_C2H2	257	279	2.09e-3	SMART
ZnF_C2H2	285	307	5.29e-5	SMART
ZnF_C2H2	313	335	8.6e-5	SMART
ZnF_C2H2	341	363	1.28e-3	SMART
ZnF_C2H2	369	391	1.12e-3	SMART
ZnF_C2H2	397	419	1.84e-4	SMART
ZnF_C2H2	425	447	2.4e-3	SMART
ZnF_C2H2	453	475	4.79e-3	SMART
ZnF_C2H2	481	503	3.69e-4	SMART
ZnF_C2H2	509	531	7.37e-4	SMART
ZnF_C2H2	537	559	6.88e-4	SMART
ZnF_C2H2	565	587	2.43e-4	SMART
ZnF_C2H2	593	615	2.75e-3	SMART
ZnF_C2H2	621	643	5.99e-4	SMART
ZnF_C2H2	649	671	8.94e-3	SMART
ZnF_C2H2	679	698	4.27e1	SMART
ZnF_C2H2	704	726	1.23e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176003

Predicted Effect

probably damaging
Transcript: ENSMUST00000176511
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: Y593H

Domain	Start	End	E-Value	Type
KRAB	28	88	1.14e-36	SMART
ZnF_C2H2	201	223	5.42e-2	SMART
ZnF_C2H2	229	251	1.22e-4	SMART
ZnF_C2H2	257	279	2.09e-3	SMART
ZnF_C2H2	285	307	5.29e-5	SMART
ZnF_C2H2	313	335	8.6e-5	SMART
ZnF_C2H2	341	363	1.28e-3	SMART
ZnF_C2H2	369	391	1.12e-3	SMART
ZnF_C2H2	397	419	1.84e-4	SMART
ZnF_C2H2	425	447	2.4e-3	SMART
ZnF_C2H2	453	475	4.79e-3	SMART
ZnF_C2H2	481	503	3.69e-4	SMART
ZnF_C2H2	509	531	7.37e-4	SMART
ZnF_C2H2	537	559	6.88e-4	SMART
ZnF_C2H2	565	587	2.43e-4	SMART
ZnF_C2H2	593	615	2.75e-3	SMART
ZnF_C2H2	621	643	5.99e-4	SMART
ZnF_C2H2	649	671	8.94e-3	SMART
ZnF_C2H2	679	698	4.27e1	SMART
ZnF_C2H2	704	726	1.23e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176580

SMART Domains

Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720

Domain	Start	End	E-Value	Type
KRAB	28	84	1.96e-17	SMART

Meta Mutation Damage Score

0.6692

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,421,226		probably benign	Het
3110043O21Rik	T	A	4: 35,225,985		probably benign	Het
Abcd3	A	G	3: 121,761,470	V616A	probably benign	Het
Abhd17a	A	G	10: 80,584,050	S241P	probably benign	Het
Adamts15	T	C	9: 30,904,518	S681G	probably benign	Het
Arap2	A	T	5: 62,621,863	H1461Q	possibly damaging	Het
Armc3	A	G	2: 19,300,473	K681E	probably damaging	Het
Arrdc5	T	C	17: 56,294,420	E235G	possibly damaging	Het
Atxn1	T	C	13: 45,965,967		probably benign	Het
Capn13	C	A	17: 73,331,108	K433N	probably benign	Het
Ccdc113	G	A	8: 95,557,268	M323I	probably benign	Het
Cd55	A	T	1: 130,452,483	C253S	probably damaging	Het
Cyp2j8	T	A	4: 96,507,329	T20S	probably benign	Het
Dnah8	G	A	17: 30,752,092	V2707M	probably benign	Het
Erlec1	C	T	11: 30,949,972	E166K	probably benign	Het
Fastkd2	A	G	1: 63,752,357	K675E	probably benign	Het
Gid4	G	A	11: 60,417,836	V61M	possibly damaging	Het
Glt28d2	G	A	3: 85,872,086	Q27*	probably null	Het
Ipo8	A	T	6: 148,800,164		probably benign	Het
Isx	A	G	8: 74,873,656	I6V	probably benign	Het
Itsn1	A	G	16: 91,853,855		probably benign	Het
Klhl40	A	G	9: 121,778,890	D372G	probably benign	Het
Krt80	C	T	15: 101,352,308	V19M	possibly damaging	Het
Lingo2	T	A	4: 35,708,462	D506V	probably damaging	Het
Lmo7	A	T	14: 101,900,074	E504D	possibly damaging	Het
Lpcat4	G	A	2: 112,246,392	E454K	probably benign	Het
Macf1	C	T	4: 123,382,212	A4176T	probably damaging	Het
Noxo1	G	A	17: 24,698,963	R81H	probably benign	Het
Olfr479	T	C	7: 108,055,155	Y58H	probably damaging	Het
Olfr854	T	A	9: 19,567,022	M121L	possibly damaging	Het
Pafah1b1	T	C	11: 74,682,240	T333A	probably benign	Het
Pak1ip1	A	G	13: 41,004,756	D35G	possibly damaging	Het
Pak3	T	C	X: 143,733,209		probably null	Het
Pcdhb9	A	T	18: 37,401,822	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,401,823	S290I	probably benign	Het
Ppp2r2d	T	A	7: 138,868,485	V25D	probably damaging	Het
Prdm15	G	T	16: 97,806,515	N709K	probably damaging	Het
Ptprs	C	A	17: 56,447,468	A191S	possibly damaging	Het
Rrs1	G	T	1: 9,546,341	R273L	possibly damaging	Het
Sin3a	T	C	9: 57,095,358	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,479	V355A	probably benign	Het
Spen	T	G	4: 141,477,372	N1315H	unknown	Het
Ssrp1	A	G	2: 85,040,217		probably benign	Het
St7	G	A	6: 17,819,288	V64M	probably damaging	Het
Syne2	C	A	12: 75,952,742	A2304E	probably damaging	Het
Tcf25	T	A	8: 123,401,143	L622*	probably null	Het
Tmem107	G	T	11: 69,071,475		probably null	Het
Tmem62	T	A	2: 120,980,510	N156K	probably damaging	Het
Wdr90	G	T	17: 25,853,731	R884S	probably benign	Het
Zfp934	T	G	13: 62,517,559	N312H	probably benign	Het

Other mutations in Zfp184

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Zfp184	APN	13	21950225	splice site	probably benign
R0393:Zfp184	UTSW	13	21947082	splice site	probably benign
R0636:Zfp184	UTSW	13	21949749	missense	probably damaging	1.00
R1657:Zfp184	UTSW	13	21959273	missense	probably damaging	1.00
R1718:Zfp184	UTSW	13	21959272	missense	possibly damaging	0.76
R4237:Zfp184	UTSW	13	21958778	missense	probably damaging	1.00
R4327:Zfp184	UTSW	13	21959902	missense	probably damaging	1.00
R4328:Zfp184	UTSW	13	21959902	missense	probably damaging	1.00
R4877:Zfp184	UTSW	13	21960328	missense	possibly damaging	0.92
R4941:Zfp184	UTSW	13	21949721	missense	probably damaging	1.00
R5014:Zfp184	UTSW	13	21958424	missense	probably benign	0.37
R5054:Zfp184	UTSW	13	21959282	missense	possibly damaging	0.74
R5105:Zfp184	UTSW	13	21959629	missense	possibly damaging	0.58
R5216:Zfp184	UTSW	13	21950236	missense	probably damaging	1.00
R5379:Zfp184	UTSW	13	21959881	missense	probably damaging	1.00
R5387:Zfp184	UTSW	13	21949640	intron	probably benign
R5490:Zfp184	UTSW	13	21958577	missense	probably benign	0.40
R6220:Zfp184	UTSW	13	21960207	missense	probably damaging	1.00
R6752:Zfp184	UTSW	13	21959408	missense	probably damaging	0.99
R7088:Zfp184	UTSW	13	21959992	missense	probably damaging	1.00
R7653:Zfp184	UTSW	13	21959717	missense	probably damaging	1.00
R7980:Zfp184	UTSW	13	21960206	missense	probably damaging	1.00
R8056:Zfp184	UTSW	13	21958838	missense	probably damaging	1.00
R8214:Zfp184	UTSW	13	21958825	missense	probably damaging	1.00
R8235:Zfp184	UTSW	13	21959883	missense	probably damaging	1.00
R8748:Zfp184	UTSW	13	21960047	missense	probably benign	0.00
R8891:Zfp184	UTSW	13	21959342	missense	probably damaging	1.00
R9024:Zfp184	UTSW	13	21958958	missense	probably damaging	1.00
R9082:Zfp184	UTSW	13	21959466	missense	probably damaging	1.00
R9344:Zfp184	UTSW	13	21960241	missense	probably damaging	1.00
R9436:Zfp184	UTSW	13	21949728	missense	probably benign	0.03
R9568:Zfp184	UTSW	13	21958727	missense	probably benign	0.25
R9664:Zfp184	UTSW	13	21959926	missense	probably benign
R9709:Zfp184	UTSW	13	21959495	missense	possibly damaging	0.67
X0057:Zfp184	UTSW	13	21959548	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAGTTCATCTCTTGCTAAGC -3'
(R):5'- TGAGAGCAGAGTGACACTGG -3'

Sequencing Primer
(F):5'- CTGGAGAGAAGCCTTATCAATGTC -3'
(R):5'- GACACTGGAAGGCTTTTTCACAGTC -3'

Posted On

2015-06-24