Mutagenetix > Incidental Mutation

Incidental Mutation 'R8078:Zfp606'

629146

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

067512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12212220-12230162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12214942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 57 (A57T)

Ref Sequence

ENSEMBL: ENSMUSP00000096421 (fasta)

Gene Model

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

AlphaFold

Q7TSV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098822
AA Change: A57T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: A57T

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

probably damaging
Transcript: ENSMUST00000123589
AA Change: A57T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000151933
AA Change: A57T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122197
Gene: ENSMUSG00000030386
AA Change: A57T

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

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,251,279 (GRCm39)	V2884I	probably benign	Het
Actl10	T	A	2: 154,394,490 (GRCm39)	N147K	probably benign	Het
Agpat2	C	A	2: 26,494,113 (GRCm39)	C37F	possibly damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,494,854 (GRCm39)		probably null	Het
Bcas1	T	C	2: 170,260,532 (GRCm39)	E49G	possibly damaging	Het
Birc2	A	G	9: 7,858,742 (GRCm39)	V331A	probably damaging	Het
Cadm3	A	G	1: 173,168,626 (GRCm39)	V314A	probably damaging	Het
Cep290	T	C	10: 100,408,749 (GRCm39)	V2407A	probably benign	Het
Chd5	C	A	4: 152,445,448 (GRCm39)	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,385,996 (GRCm39)	S27G	probably benign	Het
Coro1c	G	T	5: 114,020,164 (GRCm39)	A17E	probably damaging	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,704,451 (GRCm39)	V353M	probably damaging	Het
Farp1	T	A	14: 121,513,712 (GRCm39)	S836T	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Flg2	T	G	3: 93,107,582 (GRCm39)	D22E	probably damaging	Het
Glis1	T	A	4: 107,425,099 (GRCm39)	C237S	probably damaging	Het
Gm5519	T	C	19: 33,800,357 (GRCm39)	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,674,919 (GRCm39)	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,235,333 (GRCm39)	Y123H	probably damaging	Het
Idh1	T	A	1: 65,200,225 (GRCm39)	I380F	probably damaging	Het
Il23r	A	T	6: 67,400,577 (GRCm39)	N584K	probably damaging	Het
Irag1	T	C	7: 110,498,942 (GRCm39)	E363G	probably damaging	Het
Lama1	A	T	17: 68,098,289 (GRCm39)	T1829S		Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Luzp2	T	A	7: 54,702,510 (GRCm39)	Y24*	probably null	Het
Masp2	A	T	4: 148,698,235 (GRCm39)	T439S	probably benign	Het
Meioc	G	A	11: 102,559,226 (GRCm39)	W49*	probably null	Het
Mtor	T	G	4: 148,552,744 (GRCm39)	I749S	probably benign	Het
Myo16	T	A	8: 10,612,078 (GRCm39)	V1241D	unknown	Het
Ncam2	G	T	16: 81,240,136 (GRCm39)	R199L	possibly damaging	Het
Nyap2	A	G	1: 81,218,772 (GRCm39)	S265G	possibly damaging	Het
Or4f15	T	A	2: 111,813,615 (GRCm39)	D268V	probably damaging	Het
Parp8	A	T	13: 117,061,519 (GRCm39)	F175I	probably damaging	Het
Pcnx1	A	G	12: 82,022,054 (GRCm39)	T823A		Het
Phc2	T	A	4: 128,604,855 (GRCm39)	I197N	probably damaging	Het
Plaat3	C	T	19: 7,556,526 (GRCm39)	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,107 (GRCm39)	I518M	probably benign	Het
Prg2	T	A	2: 84,812,604 (GRCm39)	C105S	probably benign	Het
Rab39	A	G	9: 53,617,255 (GRCm39)	L54P	possibly damaging	Het
Rell1	T	A	5: 64,097,064 (GRCm39)		probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc4a4	T	C	5: 89,327,566 (GRCm39)	Y668H	probably benign	Het
Sncg	C	A	14: 34,096,727 (GRCm39)		probably benign	Het
Spata31d1b	A	G	13: 59,863,263 (GRCm39)	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,112,803 (GRCm39)	G750D	probably damaging	Het
Tcea3	A	T	4: 135,981,825 (GRCm39)	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,393,392 (GRCm39)	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,335,306 (GRCm39)	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,745,409 (GRCm39)	D149V	probably damaging	Het
Tsc22d2	C	A	3: 58,323,453 (GRCm39)	A115E	probably benign	Het
Vmn2r101	T	A	17: 19,810,507 (GRCm39)	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,265,364 (GRCm39)	E40*	probably null	Het
Zfp760	T	C	17: 21,942,436 (GRCm39)	V537A	probably benign	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
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
R8701:Zfp606	UTSW	7	12,215,025 (GRCm39)	missense	unknown
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'- CTGTGGGGTAAAGAAGTAGCTTTC -3'
(R):5'- GACTGGATTCCCATACCTGC -3'

Sequencing Primer
(F):5'- AGAAGTAGCTTTCTTCCTTACTGG -3'
(R):5'- CTGCATTCAGGAATCGCTAATTGGC -3'

Posted On

2020-06-30