Mutagenetix > Incidental Mutation

Incidental Mutation 'R7193:Zfp606'

559718

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

045334-MU

Accession Numbers

Essential gene?

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

Stock #

R7193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12212220-12230162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12227966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 696 (S696A)

Ref Sequence

ENSEMBL: ENSMUSP00000096421 (fasta)

Gene Model

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

AlphaFold

Q7TSV0

Predicted Effect

probably benign
Transcript: ENSMUST00000098822
AA Change: S696A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: S696A

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: S638A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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
2700049A03Rik	A	G	12: 71,265,963 (GRCm39)		probably null	Het
Abca16	T	C	7: 120,026,409 (GRCm39)	S124P	probably damaging	Het
Acan	A	T	7: 78,736,090 (GRCm39)	S179C	probably damaging	Het
Atg2b	A	C	12: 105,630,967 (GRCm39)	H319Q	probably damaging	Het
Bptf	G	A	11: 106,945,635 (GRCm39)	Q2535*	probably null	Het
Brpf3	T	C	17: 29,055,665 (GRCm39)	*1205R	probably null	Het
Cabyr	C	A	18: 12,884,815 (GRCm39)	P434Q	probably damaging	Het
Cacna1g	C	A	11: 94,300,057 (GRCm39)	D2268Y	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cct4	A	G	11: 22,947,111 (GRCm39)	T201A	probably benign	Het
Cdyl2	A	C	8: 117,350,733 (GRCm39)	S133A	probably benign	Het
Cep76	A	G	18: 67,774,204 (GRCm39)	L14P	possibly damaging	Het
Cert1	T	A	13: 96,767,341 (GRCm39)		probably null	Het
Crybg3	A	T	16: 59,379,956 (GRCm39)	S433T	possibly damaging	Het
Cul9	T	C	17: 46,849,423 (GRCm39)	K574R	probably damaging	Het
Cyp2u1	T	C	3: 131,084,792 (GRCm39)	I527V	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
F5	A	G	1: 164,046,966 (GRCm39)	N2142S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Flnc	A	G	6: 29,450,870 (GRCm39)	Y1506C	probably damaging	Het
Foxred2	T	A	15: 77,836,230 (GRCm39)	S376C	probably damaging	Het
Gbe1	T	C	16: 70,292,258 (GRCm39)	L530P	probably damaging	Het
Hmcn1	T	C	1: 150,525,331 (GRCm39)	R3398G	probably null	Het
Igf1r	T	C	7: 67,836,905 (GRCm39)	L587P	probably damaging	Het
Ints15	A	G	5: 143,293,598 (GRCm39)	V293A	probably benign	Het
Kcna3	T	C	3: 106,943,853 (GRCm39)	Y39H	probably benign	Het
Krtap5-2	GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA	GCTACAGCCTCCCTTGCA	7: 141,728,980 (GRCm39)		probably benign	Het
Mbl1	T	C	14: 40,880,669 (GRCm39)	F186L	probably damaging	Het
Ncam2	A	T	16: 81,386,683 (GRCm39)	K687N	probably damaging	Het
Nedd4l	T	C	18: 65,130,441 (GRCm39)	V24A	probably damaging	Het
Nek1	A	G	8: 61,526,612 (GRCm39)	E661G	probably damaging	Het
Nudt14	G	T	12: 112,902,940 (GRCm39)	D28E	probably benign	Het
Or13n4	T	C	7: 106,423,798 (GRCm39)		probably benign	Het
Or1j15	T	A	2: 36,459,248 (GRCm39)	C213S	probably benign	Het
Or2n1	T	A	17: 38,485,987 (GRCm39)	I4N	probably benign	Het
Or4k47	A	T	2: 111,451,600 (GRCm39)	V273E	probably damaging	Het
Pdk4	A	T	6: 5,487,089 (GRCm39)	M319K	probably benign	Het
Pfkp	T	C	13: 6,643,252 (GRCm39)	N522S	probably benign	Het
Pias2	T	C	18: 77,207,817 (GRCm39)	V234A	possibly damaging	Het
Pik3c2b	C	A	1: 133,007,512 (GRCm39)	H625Q	probably benign	Het
Pnpla7	T	C	2: 24,941,627 (GRCm39)	S1117P	probably damaging	Het
Prdm2	A	T	4: 142,907,464 (GRCm39)	V36D	probably damaging	Het
Prep	C	T	10: 44,968,795 (GRCm39)	R98C	probably benign	Het
Rae1	T	C	2: 172,850,110 (GRCm39)		probably null	Het
Rgs3	T	A	4: 62,533,573 (GRCm39)	V138E	probably damaging	Het
Rnf185	T	C	11: 3,375,329 (GRCm39)	T142A	possibly damaging	Het
Rsph6a	C	A	7: 18,799,572 (GRCm39)	P401Q	probably damaging	Het
Runx3	A	T	4: 134,848,456 (GRCm39)	T14S	probably benign	Het
Scaf11	A	G	15: 96,317,042 (GRCm39)	S841P	probably damaging	Het
Spta1	T	A	1: 174,012,178 (GRCm39)	L328Q	probably damaging	Het
Sqor	G	A	2: 122,645,929 (GRCm39)	V318M	probably damaging	Het
Stox2	T	C	8: 47,639,489 (GRCm39)	T902A	probably benign	Het
Susd3	T	C	13: 49,384,679 (GRCm39)	H248R	probably damaging	Het
Syne1	T	C	10: 5,183,406 (GRCm39)	Y4133C	probably damaging	Het
Tbc1d20	C	T	2: 152,153,337 (GRCm39)	T289M	probably benign	Het
Unc80	T	A	1: 66,588,943 (GRCm39)	F1036Y	possibly damaging	Het
Zbtb7c	T	C	18: 76,271,009 (GRCm39)	C366R	probably damaging	Het
Zeb1	A	T	18: 5,772,756 (GRCm39)	D1015V	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
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'- GATGGCTCATCTTGTTAGGCATC -3'
(R):5'- TGATGTTGAAGTAAGGCCGAATGAC -3'

Sequencing Primer
(F):5'- GCTCATCTTGTTAGGCATCAAAGGAC -3'
(R):5'- AAAGGCTCTTCCACACTGATTG -3'

Posted On

2019-06-26