Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Zfp184'

707704

Institutional Source

Beutler Lab

Gene Symbol

Zfp184

Ensembl Gene

ENSMUSG00000006720

Gene Name

zinc finger protein 184 (Kruppel-like)

Synonyms

4930500C15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22129264-22144949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22144411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 706 (C706R)

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: C706R

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

SMART Domains

Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: C706R

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: C706R

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

SMART Domains

Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: C706R

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: ENSMUST00000176511
AA Change: C706R

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

SMART Domains

Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: C706R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,903 (GRCm39)	S285P	probably damaging	Het
Arel1	C	T	12: 84,981,371 (GRCm39)	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Cnksr1	T	C	4: 133,963,508 (GRCm39)	E58G	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,428,825 (GRCm39)	A362S	possibly damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,325,130 (GRCm39)	C325Y	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	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
R0636:Zfp184	UTSW	13	22,133,919 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACCTTTCGACACTGTTCATC -3'
(R):5'- CATCCCACCATGTGACAGAG -3'

Sequencing Primer
(F):5'- GCATCAGCGAATTCATACGG -3'
(R):5'- CACCATGTGACAGAGAAAAATTTAC -3'

Posted On

2022-04-18