Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Zfp184'

56701

Institutional Source

Beutler Lab

Gene Symbol

Zfp184

Ensembl Gene

ENSMUSG00000006720

Gene Name

zinc finger protein 184 (Kruppel-like)

Synonyms

4930500C15Rik

MMRRC Submission

038825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22129264-22144949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22133919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

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: D55E

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

SMART Domains

Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: D55E

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: D55E

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

SMART Domains

Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: D55E

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: D55E

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

SMART Domains

Protein: ENSMUSP00000135102
Gene: ENSMUSG00000006720
AA Change: D55E

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: D55E

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

SMART Domains

Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: D55E

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: D55E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720
AA Change: D55E

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

Meta Mutation Damage Score

0.2384

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,414 (GRCm39)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm39)	E146G	probably damaging	Het
Adam2	T	G	14: 66,272,265 (GRCm39)	D639A	probably benign	Het
Adh4	G	T	3: 138,133,835 (GRCm39)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,298,702 (GRCm39)	D76G	probably damaging	Het
Akip1	T	C	7: 109,306,726 (GRCm39)		probably benign	Het
Ap3d1	T	A	10: 80,555,216 (GRCm39)	K370*	probably null	Het
Arfgef1	C	A	1: 10,270,076 (GRCm39)	V358L	probably benign	Het
Arpp21	A	T	9: 112,012,566 (GRCm39)	D85E	probably benign	Het
Azi2	A	T	9: 117,891,125 (GRCm39)	L383F	probably benign	Het
Bpgm	T	A	6: 34,481,222 (GRCm39)	D206E	probably benign	Het
Bsn	T	C	9: 107,985,033 (GRCm39)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,084,179 (GRCm39)		probably benign	Het
Cep135	T	C	5: 76,763,504 (GRCm39)	V498A	probably benign	Het
Cntn6	A	T	6: 104,840,109 (GRCm39)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,273,642 (GRCm39)		probably benign	Het
Csf2rb2	G	A	15: 78,176,160 (GRCm39)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,399,895 (GRCm39)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,173,713 (GRCm39)	T152A	probably benign	Het
Def8	G	A	8: 124,181,096 (GRCm39)	W176*	probably null	Het
Dgkg	A	G	16: 22,398,479 (GRCm39)		probably benign	Het
Ear10	T	C	14: 44,160,451 (GRCm39)		probably null	Het
Fbxw2	A	T	2: 34,712,859 (GRCm39)	Y67*	probably null	Het
Flii	T	A	11: 60,606,378 (GRCm39)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,590,303 (GRCm39)	R270K	probably benign	Het
Gnl3	T	A	14: 30,739,110 (GRCm39)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,861,905 (GRCm39)	M274L	probably benign	Het
Ifi47	A	G	11: 48,987,478 (GRCm39)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,532,259 (GRCm39)	T130A	probably benign	Het
Itpr2	T	A	6: 146,072,910 (GRCm39)	D2373V	probably damaging	Het
Kat6a	T	C	8: 23,429,339 (GRCm39)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,766,823 (GRCm39)		probably benign	Het
Klra2	T	C	6: 131,197,067 (GRCm39)		probably benign	Het
Lama5	A	G	2: 179,831,124 (GRCm39)		probably null	Het
Mapk4	A	G	18: 74,063,525 (GRCm39)	S566P	probably benign	Het
Mindy4	C	A	6: 55,253,570 (GRCm39)	R480S	possibly damaging	Het
Mterf3	T	C	13: 67,070,817 (GRCm39)		probably benign	Het
Mtmr2	A	G	9: 13,713,209 (GRCm39)		probably null	Het
Myef2l	T	C	3: 10,153,843 (GRCm39)	L204P	possibly damaging	Het
Naip5	T	C	13: 100,356,196 (GRCm39)	T1140A	probably benign	Het
Nf1	A	G	11: 79,426,529 (GRCm39)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,586,670 (GRCm39)	D141E	probably benign	Het
Noxa1	C	A	2: 24,976,106 (GRCm39)		probably benign	Het
Or4g16	A	G	2: 111,136,757 (GRCm39)	N69S	probably benign	Het
Or5b121	A	T	19: 13,507,613 (GRCm39)	Y236F	possibly damaging	Het
Or5p55	T	C	7: 107,566,679 (GRCm39)	V25A	probably benign	Het
Otog	G	A	7: 45,913,652 (GRCm39)		probably null	Het
Pebp4	T	C	14: 70,285,796 (GRCm39)		probably benign	Het
Phgdh	G	T	3: 98,240,607 (GRCm39)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,702,242 (GRCm39)	H346R	probably benign	Het
Rsf1	T	C	7: 97,311,226 (GRCm39)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,649,056 (GRCm39)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,887,870 (GRCm39)	R74G	probably benign	Het
Setdb2	T	C	14: 59,644,153 (GRCm39)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,483,076 (GRCm39)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,340,222 (GRCm39)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,742,904 (GRCm39)	S206P	probably benign	Het
Susd2	T	A	10: 75,475,184 (GRCm39)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm39)	Q2063*	probably null	Het
Syne2	G	A	12: 75,977,757 (GRCm39)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,834,803 (GRCm39)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,188,272 (GRCm39)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,745,834 (GRCm39)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,163,613 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,554,935 (GRCm39)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,562,030 (GRCm39)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,852,825 (GRCm39)	D712N	probably damaging	Het
Vcan	C	A	13: 89,860,386 (GRCm39)	R327L	probably damaging	Het
Vps8	A	G	16: 21,253,683 (GRCm39)	E8G	probably benign	Het
Washc5	T	C	15: 59,231,258 (GRCm39)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,578,704 (GRCm39)	N426S	probably benign	Het
Zfp882	T	C	8: 72,668,181 (GRCm39)	V336A	probably benign	Het

Other mutations in Zfp184

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Zfp184	APN	13	22,134,395 (GRCm39)	splice site	probably benign
R0393:Zfp184	UTSW	13	22,131,252 (GRCm39)	splice site	probably benign
R1657:Zfp184	UTSW	13	22,143,443 (GRCm39)	missense	probably damaging	1.00
R1718:Zfp184	UTSW	13	22,143,442 (GRCm39)	missense	possibly damaging	0.76
R4237:Zfp184	UTSW	13	22,142,948 (GRCm39)	missense	probably damaging	1.00
R4326:Zfp184	UTSW	13	22,144,072 (GRCm39)	missense	probably damaging	1.00
R4327:Zfp184	UTSW	13	22,144,072 (GRCm39)	missense	probably damaging	1.00
R4328:Zfp184	UTSW	13	22,144,072 (GRCm39)	missense	probably damaging	1.00
R4877:Zfp184	UTSW	13	22,144,498 (GRCm39)	missense	possibly damaging	0.92
R4941:Zfp184	UTSW	13	22,133,891 (GRCm39)	missense	probably damaging	1.00
R5014:Zfp184	UTSW	13	22,142,594 (GRCm39)	missense	probably benign	0.37
R5054:Zfp184	UTSW	13	22,143,452 (GRCm39)	missense	possibly damaging	0.74
R5105:Zfp184	UTSW	13	22,143,799 (GRCm39)	missense	possibly damaging	0.58
R5216:Zfp184	UTSW	13	22,134,406 (GRCm39)	missense	probably damaging	1.00
R5379:Zfp184	UTSW	13	22,144,051 (GRCm39)	missense	probably damaging	1.00
R5387:Zfp184	UTSW	13	22,133,810 (GRCm39)	intron	probably benign
R5490:Zfp184	UTSW	13	22,142,747 (GRCm39)	missense	probably benign	0.40
R6220:Zfp184	UTSW	13	22,144,377 (GRCm39)	missense	probably damaging	1.00
R6752:Zfp184	UTSW	13	22,143,578 (GRCm39)	missense	probably damaging	0.99
R7088:Zfp184	UTSW	13	22,144,162 (GRCm39)	missense	probably damaging	1.00
R7653:Zfp184	UTSW	13	22,143,887 (GRCm39)	missense	probably damaging	1.00
R7980:Zfp184	UTSW	13	22,144,376 (GRCm39)	missense	probably damaging	1.00
R8056:Zfp184	UTSW	13	22,143,008 (GRCm39)	missense	probably damaging	1.00
R8214:Zfp184	UTSW	13	22,142,995 (GRCm39)	missense	probably damaging	1.00
R8235:Zfp184	UTSW	13	22,144,053 (GRCm39)	missense	probably damaging	1.00
R8748:Zfp184	UTSW	13	22,144,217 (GRCm39)	missense	probably benign	0.00
R8891:Zfp184	UTSW	13	22,143,512 (GRCm39)	missense	probably damaging	1.00
R9024:Zfp184	UTSW	13	22,143,128 (GRCm39)	missense	probably damaging	1.00
R9082:Zfp184	UTSW	13	22,143,636 (GRCm39)	missense	probably damaging	1.00
R9344:Zfp184	UTSW	13	22,144,411 (GRCm39)	missense	probably damaging	1.00
R9436:Zfp184	UTSW	13	22,133,898 (GRCm39)	missense	probably benign	0.03
R9568:Zfp184	UTSW	13	22,142,897 (GRCm39)	missense	probably benign	0.25
R9664:Zfp184	UTSW	13	22,144,096 (GRCm39)	missense	probably benign
R9709:Zfp184	UTSW	13	22,143,665 (GRCm39)	missense	possibly damaging	0.67
X0057:Zfp184	UTSW	13	22,143,718 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCACATTAAGCACTTCACAGG -3'
(R):5'- GGCAACCGAGAAGCTCATCTAAGG -3'

Sequencing Primer
(F):5'- acctttctcatgctctgcc -3'
(R):5'- CTGGTCCCGAAATTTAGATGC -3'

Posted On

2013-07-11