Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Zfp606'

541883

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

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

Stock #

R6964 (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 12223519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 10 (V10E)

Ref Sequence

ENSEMBL: ENSMUSP00000148075 (fasta)

Gene Model

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

AlphaFold

Q7TSV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098822
AA Change: V68E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: V68E

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 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 damaging
Transcript: ENSMUST00000209403
AA Change: V10E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	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
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
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'- TGCTGTGCTACTCAGTTAAACTTG -3'
(R):5'- CATACTTCTTTCACAGGATAGCTG -3'

Sequencing Primer
(F):5'- GAACTCACTATGTAGTCCAGACTGG -3'
(R):5'- CTTTCACAGGATAGCTGAAGACACTG -3'

Posted On

2018-11-28