Mutagenetix > Incidental Mutation

Incidental Mutation 'R1943:Zfp606'

216373

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

039961-MU

Accession Numbers

Essential gene?

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

Stock #

R1943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12212220-12230162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12227615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 521 (S521P)

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: S579P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: S579P

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

noncoding transcript
Transcript: ENSMUST00000133515

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: S521P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,506 (GRCm39)	N1017S	possibly damaging	Het
Abca8a	T	C	11: 109,960,689 (GRCm39)	I610V	probably benign	Het
Acp5	C	T	9: 22,040,900 (GRCm39)	V108M	probably damaging	Het
Adam23	T	C	1: 63,516,916 (GRCm39)		probably null	Het
Adam34	T	A	8: 44,103,864 (GRCm39)	T594S	possibly damaging	Het
Adam34	A	T	8: 44,104,852 (GRCm39)	N264K	probably damaging	Het
Arsa	G	A	15: 89,357,742 (GRCm39)	T407I	probably damaging	Het
Bicc1	A	G	10: 70,995,353 (GRCm39)	S32P	probably damaging	Het
Cacna1i	T	A	15: 80,279,245 (GRCm39)	D1995E	probably benign	Het
Cemip2	G	A	19: 21,825,404 (GRCm39)		probably null	Het
Chst15	A	T	7: 131,864,579 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,542,128 (GRCm39)	F754I	probably benign	Het
Cpz	C	T	5: 35,669,772 (GRCm39)	E302K	probably damaging	Het
Daw1	A	T	1: 83,186,987 (GRCm39)	I371F	possibly damaging	Het
Dennd1b	C	A	1: 139,096,690 (GRCm39)		probably benign	Het
Dhtkd1	T	G	2: 5,937,293 (GRCm39)	Q73P	probably benign	Het
Dmgdh	T	C	13: 93,847,878 (GRCm39)	I525T	probably benign	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc3	A	G	18: 32,379,663 (GRCm39)	Y290C	probably damaging	Het
Fh1	C	T	1: 175,437,344 (GRCm39)	V252I	probably benign	Het
Gm13199	C	T	2: 5,867,517 (GRCm39)		probably benign	Het
Il1rn	T	C	2: 24,238,611 (GRCm39)	S82P	possibly damaging	Het
Lama4	T	C	10: 38,973,134 (GRCm39)	V1567A	possibly damaging	Het
Lamtor4	A	G	5: 138,254,054 (GRCm39)		probably null	Het
Llgl1	A	G	11: 60,596,842 (GRCm39)	N148D	probably benign	Het
Lmo7	G	T	14: 102,139,738 (GRCm39)	G774V	probably damaging	Het
Luzp2	A	T	7: 54,914,050 (GRCm39)	K293M	possibly damaging	Het
Mknk1	T	C	4: 115,720,223 (GRCm39)	V83A	probably damaging	Het
Mug2	T	C	6: 122,056,598 (GRCm39)	V1181A	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Or1ad8	A	G	11: 50,898,502 (GRCm39)	I234M	probably benign	Het
Or2aj4	A	T	16: 19,385,187 (GRCm39)	W149R	probably benign	Het
Osbpl3	A	G	6: 50,297,054 (GRCm39)	I548T	probably benign	Het
Parp14	A	G	16: 35,656,499 (GRCm39)	Y1676H	probably damaging	Het
Phtf1	A	T	3: 103,901,198 (GRCm39)	K416*	probably null	Het
Pmp2	T	C	3: 10,247,570 (GRCm39)	T40A	probably benign	Het
Ptpra	T	C	2: 130,386,024 (GRCm39)	M541T	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rdh14	T	C	12: 10,441,162 (GRCm39)	V108A	probably benign	Het
Rnf38	A	T	4: 44,138,748 (GRCm39)	H248Q	probably damaging	Het
Rsph6a	A	C	7: 18,808,001 (GRCm39)	Y388S	probably damaging	Het
Ryr2	T	C	13: 11,746,609 (GRCm39)	D1981G	probably benign	Het
Sf3a3	A	G	4: 124,609,694 (GRCm39)	K97E	possibly damaging	Het
Shisa9	A	G	16: 12,085,620 (GRCm39)	T394A	probably benign	Het
Slc43a2	T	A	11: 75,436,567 (GRCm39)		probably null	Het
Slc45a1	A	G	4: 150,728,734 (GRCm39)	F23S	probably benign	Het
Slc7a10	T	A	7: 34,899,723 (GRCm39)	V435E	probably benign	Het
Snx15	A	G	19: 6,178,096 (GRCm39)	Y28H	probably damaging	Het
Spef2	T	G	15: 9,663,280 (GRCm39)	K834Q	possibly damaging	Het
Tdpoz2	G	T	3: 93,559,230 (GRCm39)	Y247*	probably null	Het
Tedc2	G	A	17: 24,436,923 (GRCm39)	R271W	possibly damaging	Het
Tfr2	C	A	5: 137,577,183 (GRCm39)	H378Q	probably benign	Het
Tigit	T	A	16: 43,469,581 (GRCm39)	H170L	probably benign	Het
Tmem62	A	T	2: 120,817,107 (GRCm39)	Q91L	probably benign	Het
Tmtc1	G	T	6: 148,327,416 (GRCm39)	C32*	probably null	Het
Txndc12	G	A	4: 108,713,407 (GRCm39)	V90I	probably benign	Het
Vmn2r93	C	A	17: 18,546,063 (GRCm39)	T645K	probably benign	Het
Vmn2r96	C	T	17: 18,806,664 (GRCm39)	T345I	probably benign	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Xirp2	A	G	2: 67,342,959 (GRCm39)	I1733M	probably benign	Het
Zfp512b	T	C	2: 181,230,208 (GRCm39)	H516R	probably damaging	Het
Zfp715	A	T	7: 42,949,054 (GRCm39)	V302E	possibly 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
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
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'- CATCAGAGAACTCACACTGGAGA -3'
(R):5'- AGTTCTCCGGTGTGCAATTAGG -3'

Sequencing Primer
(F):5'- TGCACTGAATGTGGCAAGTC -3'
(R):5'- CACCAGTGTGAATTCTCCGATGAG -3'

Posted On

2014-08-01