Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Zfp606'

669065

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

068555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12212220-12230162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12215025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 84 (D84E)

Ref Sequence

ENSEMBL: ENSMUSP00000147558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098822] [ENSMUST00000123589] [ENSMUST00000151933] [ENSMUST00000209403]

AlphaFold

Q7TSV0

Predicted Effect

probably benign
Transcript: ENSMUST00000098822

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386

Domain	Start	End	E-Value	Type
KRAB	63	123	3.36e-39	SMART
ZnF_C2H2	291	313	1.83e2	SMART
ZnF_C2H2	403	425	2.89e1	SMART
ZnF_C2H2	431	453	2.3e-5	SMART
ZnF_C2H2	459	481	1.28e-3	SMART
ZnF_C2H2	487	509	3.95e-4	SMART
ZnF_C2H2	515	537	5.67e-5	SMART
ZnF_C2H2	543	565	6.88e-4	SMART
ZnF_C2H2	571	593	9.22e-5	SMART
ZnF_C2H2	599	621	1.95e-3	SMART
ZnF_C2H2	627	649	1.47e-3	SMART
ZnF_C2H2	655	677	3.39e-3	SMART
ZnF_C2H2	683	705	4.11e-2	SMART
ZnF_C2H2	711	733	4.87e-4	SMART
ZnF_C2H2	739	761	1.67e-2	SMART
ZnF_C2H2	767	789	2.4e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000123589
AA Change: D84E

Predicted Effect

probably benign
Transcript: ENSMUST00000151933

SMART Domains

Protein: ENSMUSP00000122197
Gene: ENSMUSG00000030386

Domain	Start	End	E-Value	Type
KRAB	5	65	3.36e-39	SMART
ZnF_C2H2	233	255	1.83e2	SMART
ZnF_C2H2	345	367	2.89e1	SMART
ZnF_C2H2	373	395	2.3e-5	SMART
ZnF_C2H2	401	423	1.28e-3	SMART
ZnF_C2H2	429	451	3.95e-4	SMART
ZnF_C2H2	457	479	5.67e-5	SMART
ZnF_C2H2	485	507	6.88e-4	SMART
ZnF_C2H2	513	535	9.22e-5	SMART
ZnF_C2H2	541	563	1.95e-3	SMART
ZnF_C2H2	569	591	1.47e-3	SMART
ZnF_C2H2	597	619	3.39e-3	SMART
ZnF_C2H2	625	647	4.11e-2	SMART
ZnF_C2H2	653	675	4.87e-4	SMART
ZnF_C2H2	681	703	1.67e-2	SMART
ZnF_C2H2	709	731	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209403

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,836,785 (GRCm39)	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,592,276 (GRCm39)	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,370,256 (GRCm39)	F117I	probably damaging	Het
Aldh3b2	A	G	19: 4,028,448 (GRCm39)	E116G	probably damaging	Het
Alox5	T	A	6: 116,390,787 (GRCm39)	I455F	possibly damaging	Het
Arnt	C	T	3: 95,401,076 (GRCm39)	S675F	possibly damaging	Het
Camkv	A	G	9: 107,825,240 (GRCm39)	T414A	possibly damaging	Het
Ccn5	G	T	2: 163,670,786 (GRCm39)	G98W	probably damaging	Het
Cd209c	C	T	8: 3,995,892 (GRCm39)	R6H	probably benign	Het
Cip2a	T	A	16: 48,827,504 (GRCm39)	Y456*	probably null	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,009,810 (GRCm39)	K183M	possibly damaging	Het
Dact3	G	T	7: 16,619,201 (GRCm39)	R232L	probably damaging	Het
Dlg5	G	A	14: 24,226,768 (GRCm39)	T378M	probably benign	Het
Dnah10	T	A	5: 124,803,911 (GRCm39)	D79E	probably benign	Het
Dsc1	A	T	18: 20,240,739 (GRCm39)	Y195*	probably null	Het
Elovl1	A	T	4: 118,287,707 (GRCm39)	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755 (GRCm38)	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283 (GRCm39)	M155T	probably damaging	Het
Gm28308	C	G	6: 52,140,430 (GRCm39)		probably benign	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,245,077 (GRCm39)	I445N	probably damaging	Het
Gzmb	A	T	14: 56,497,817 (GRCm39)	V141E	probably benign	Het
Hmcn1	A	T	1: 150,631,008 (GRCm39)	M930K	probably benign	Het
Hunk	T	A	16: 90,183,498 (GRCm39)	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,578,501 (GRCm39)	E304G	probably benign	Het
Klk14	A	G	7: 43,343,566 (GRCm39)	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,821,782 (GRCm39)	S695P	probably damaging	Het
Mccc1	A	T	3: 36,049,933 (GRCm39)	D86E	probably benign	Het
Mcu	T	A	10: 59,303,475 (GRCm39)	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,136,045 (GRCm39)	F90S	possibly damaging	Het
Muc2	A	G	7: 141,281,850 (GRCm39)	D536G	probably damaging	Het
Naa11	T	C	5: 97,539,817 (GRCm39)	S114G	possibly damaging	Het
Ncaph	T	C	2: 126,948,058 (GRCm39)	K676E	probably benign	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Nup210l	T	C	3: 90,030,121 (GRCm39)	M278T	probably benign	Het
Or10g6	A	G	9: 39,933,815 (GRCm39)	N42S	probably damaging	Het
Or4p4	A	G	2: 88,482,831 (GRCm39)	I112V	possibly damaging	Het
Or51r1	A	T	7: 102,227,899 (GRCm39)	M66L	possibly damaging	Het
Or8c19-ps1	A	T	9: 38,220,734 (GRCm39)	L214F	unknown	Het
Or8g4	A	T	9: 39,662,210 (GRCm39)	H176L	probably damaging	Het
Pcdh20	A	T	14: 88,705,849 (GRCm39)	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,438,079 (GRCm39)	Y3598C	probably damaging	Het
Plcg2	T	A	8: 118,308,416 (GRCm39)	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,557,953 (GRCm39)	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615 (GRCm39)	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,862,495 (GRCm39)	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,003,507 (GRCm39)	K291M	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf220	T	C	4: 117,347,190 (GRCm39)	H74R	probably damaging	Het
Sp6	A	T	11: 96,913,090 (GRCm39)	T268S	probably damaging	Het
Spata31e2	A	T	1: 26,724,526 (GRCm39)	V218D	probably benign	Het
Sphk2	A	T	7: 45,360,249 (GRCm39)	V585E	probably damaging	Het
Syne1	G	A	10: 5,155,026 (GRCm39)	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,945,503 (GRCm39)	V573I	probably benign	Het
Tdrd1	T	C	19: 56,839,916 (GRCm39)	S659P	possibly damaging	Het
Tead4	T	A	6: 128,219,529 (GRCm39)	K237N	probably damaging	Het
Tex24	T	A	8: 27,835,152 (GRCm39)	C227S	probably benign	Het
Tom1	A	T	8: 75,778,796 (GRCm39)	T174S	probably benign	Het
Tpm3	C	T	3: 89,994,987 (GRCm39)	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,169,762 (GRCm39)	E111G	possibly damaging	Het
Unc80	A	G	1: 66,677,191 (GRCm39)	D2040G	possibly damaging	Het
Usp47	A	G	7: 111,692,402 (GRCm39)	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,195,556 (GRCm39)	A590V	probably damaging	Het
Zfp112	A	G	7: 23,825,165 (GRCm39)	R382G	probably damaging	Het

Other mutations in Zfp606

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Zfp606	APN	7	12,228,159 (GRCm39)	missense	probably damaging	0.99
F5770:Zfp606	UTSW	7	12,215,123 (GRCm39)	splice site	probably benign
R1680:Zfp606	UTSW	7	12,227,898 (GRCm39)	missense	probably damaging	1.00
R1861:Zfp606	UTSW	7	12,214,858 (GRCm39)	unclassified	probably benign
R1943:Zfp606	UTSW	7	12,227,615 (GRCm39)	missense	probably damaging	1.00
R2142:Zfp606	UTSW	7	12,213,653 (GRCm39)	missense	probably damaging	0.99
R2340:Zfp606	UTSW	7	12,227,016 (GRCm39)	missense	possibly damaging	0.91
R3426:Zfp606	UTSW	7	12,223,591 (GRCm39)	missense	probably damaging	0.99
R4208:Zfp606	UTSW	7	12,228,102 (GRCm39)	missense	probably damaging	1.00
R4258:Zfp606	UTSW	7	12,228,267 (GRCm39)	splice site	probably null
R4383:Zfp606	UTSW	7	12,227,928 (GRCm39)	missense	probably damaging	1.00
R4393:Zfp606	UTSW	7	12,226,776 (GRCm39)	missense	probably damaging	1.00
R4782:Zfp606	UTSW	7	12,227,932 (GRCm39)	missense	probably damaging	1.00
R4858:Zfp606	UTSW	7	12,226,983 (GRCm39)	missense	possibly damaging	0.89
R5668:Zfp606	UTSW	7	12,226,479 (GRCm39)	missense	probably benign	0.28
R5704:Zfp606	UTSW	7	12,227,456 (GRCm39)	missense	probably damaging	0.99
R6064:Zfp606	UTSW	7	12,214,960 (GRCm39)	missense	possibly damaging	0.82
R6080:Zfp606	UTSW	7	12,228,043 (GRCm39)	missense	probably damaging	1.00
R6190:Zfp606	UTSW	7	12,227,928 (GRCm39)	missense	probably damaging	1.00
R6383:Zfp606	UTSW	7	12,226,871 (GRCm39)	missense	probably benign	0.18
R6964:Zfp606	UTSW	7	12,223,519 (GRCm39)	missense	probably damaging	1.00
R7193:Zfp606	UTSW	7	12,227,966 (GRCm39)	missense	probably benign	0.32
R7507:Zfp606	UTSW	7	12,226,868 (GRCm39)	missense	probably benign	0.18
R7997:Zfp606	UTSW	7	12,228,134 (GRCm39)	missense	possibly damaging	0.86
R7997:Zfp606	UTSW	7	12,223,519 (GRCm39)	missense	probably damaging	1.00
R8078:Zfp606	UTSW	7	12,214,942 (GRCm39)	missense	possibly damaging	0.85
R8209:Zfp606	UTSW	7	12,227,234 (GRCm39)	missense	probably benign	0.13
R8254:Zfp606	UTSW	7	12,226,788 (GRCm39)	missense	possibly damaging	0.51
R8904:Zfp606	UTSW	7	12,223,506 (GRCm39)	missense	possibly damaging	0.71
R9196:Zfp606	UTSW	7	12,227,935 (GRCm39)	nonsense	probably null
R9214:Zfp606	UTSW	7	12,215,026 (GRCm39)	missense	unknown
R9321:Zfp606	UTSW	7	12,226,610 (GRCm39)	missense	possibly damaging	0.53
R9384:Zfp606	UTSW	7	12,227,935 (GRCm39)	nonsense	probably null
R9416:Zfp606	UTSW	7	12,227,907 (GRCm39)	missense	possibly damaging	0.86
Z1176:Zfp606	UTSW	7	12,214,952 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGGGTACATGATGAACTTCTGC -3'
(R):5'- AGCTGATGACAGAGATGTGTC -3'

Sequencing Primer
(F):5'- CATGATGAACTTCTGCTAGGAAG -3'
(R):5'- TCTCAGCTCTGTGGAGAGGC -3'

Posted On

2021-04-30