Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Zfp184'

503968

Institutional Source

Beutler Lab

Gene Symbol

Zfp184

Ensembl Gene

ENSMUSG00000006720

Gene Name

zinc finger protein 184 (Kruppel-like)

Synonyms

4930500C15Rik

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

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

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22129264-22144949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22144377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 694 (H694Q)

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: H694Q

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

SMART Domains

Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: H694Q

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: H694Q

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

SMART Domains

Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: H694Q

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: H694Q

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

SMART Domains

Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: H694Q

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	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
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
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'- GGAAGACCTTTCGACACTGTTC -3'
(R):5'- CATCCCACCATGTGACAGAG -3'

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

Posted On

2018-02-27