Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Zfp184'

383123

Institutional Source

Beutler Lab

Gene Symbol

Zfp184

Ensembl Gene

ENSMUSG00000006720

Gene Name

zinc finger protein 184 (Kruppel-like)

Synonyms

MMRRC Submission

042539-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21945094-21960779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21949721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 46 (D46G)

Ref Sequence

ENSEMBL: ENSMUSP00000135173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006903] [ENSMUST00000102978] [ENSMUST00000152258] [ENSMUST00000176511] [ENSMUST00000176580]

AlphaFold

Q7TSH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000006903
AA Change: D46G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: D46G

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: D46G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: D46G

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: ENSMUST00000124912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141391

Predicted Effect

probably damaging
Transcript: ENSMUST00000152258
AA Change: D46G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135102
Gene: ENSMUSG00000006720
AA Change: D46G

Domain	Start	End	E-Value	Type
KRAB	28	88	1.14e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176003

Predicted Effect

probably damaging
Transcript: ENSMUST00000176511
AA Change: D46G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: D46G

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: ENSMUST00000176580
AA Change: D46G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720
AA Change: D46G

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

Meta Mutation Damage Score

0.2886

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,917,702	H528P	probably damaging	Het
4932438A13Rik	G	A	3: 36,919,901	S600N	probably benign	Het
A4galt	T	A	15: 83,228,328	I85F	probably damaging	Het
Abcc6	T	A	7: 46,012,523	I435F	probably benign	Het
Adam3	T	C	8: 24,677,316		probably benign	Het
Adrb3	T	C	8: 27,227,422	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054	D43E	probably benign	Het
Agt	T	A	8: 124,556,988	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601	D230E	probably damaging	Het
Aplf	A	G	6: 87,668,423	I33T	probably damaging	Het
Aplf	A	T	6: 87,646,349	N249K	probably benign	Het
Arap2	A	G	5: 62,749,478	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233		probably benign	Het
AU019823	G	T	9: 50,607,509	Q268K	probably benign	Het
Bahcc1	A	C	11: 120,286,665	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Catsper1	C	A	19: 5,341,438	A616D	possibly damaging	Het
Ccdc94	A	G	17: 55,964,149	D97G	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969		probably benign	Het
Clca1	T	A	3: 145,015,653	I386L	probably damaging	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925	L149R	probably benign	Het
Cope	T	C	8: 70,302,934		probably null	Het
Cpa6	T	A	1: 10,409,337	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716	L592*	probably null	Het
Deup1	T	C	9: 15,588,027	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814		probably benign	Het
Eif4g3	A	C	4: 138,170,565	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767		probably benign	Het
Fam227a	C	A	15: 79,640,003		probably null	Het
Fat1	A	G	8: 45,036,275	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445	H140R	probably benign	Het
Flt3	T	A	5: 147,356,375		probably null	Het
Gabrb1	A	G	5: 72,136,778	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,733,266	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703		probably null	Het
Gm4956	T	A	1: 21,298,082		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450		probably benign	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063	D385G	probably benign	Het
Maf	T	C	8: 115,706,793	D24G	unknown	Het
Nell1	T	C	7: 50,062,638	S69P	probably benign	Het
Olfr1342	C	T	4: 118,689,892	V187I	possibly damaging	Het
Olfr1436	A	G	19: 12,298,896	S79P	possibly damaging	Het
Olfr531	T	A	7: 140,400,879	M56L	probably benign	Het
Olfr609	T	C	7: 103,492,251	D209G	probably damaging	Het
Olfr91	C	T	17: 37,093,592	G94E	probably damaging	Het
Olfr969	T	C	9: 39,795,864	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264		probably null	Het
Pparg	T	A	6: 115,490,110	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,401,142	K617E	probably damaging	Het
Xrcc6	T	C	15: 82,039,812	L229P	probably damaging	Het
Zfp790	T	A	7: 29,829,491	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837	N135I	probably damaging	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
R4326:Zfp184	UTSW	13	21959902	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
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'- CCAATCCTACGGGTAAGGTC -3'
(R):5'- AAACTTGGAGCTATCCTCACC -3'

Sequencing Primer
(F):5'- CCAATCCTACGGGTAAGGTCTATTTG -3'
(R):5'- AAGACAAGGTGTGTGTTTGCCAC -3'

Posted On

2016-04-27