Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Zfp606'

188416

Institutional Source

Beutler Lab

Gene Symbol

Zfp606

Ensembl Gene

ENSMUSG00000030386

Gene Name

zinc finger protein 606

Synonyms

2410022M24Rik

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12478293-12496235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12493971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 615 (H615L)

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: H673L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: H673L

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: H615L

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528 (GRCm38)	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963 (GRCm38)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651 (GRCm38)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954 (GRCm38)	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628 (GRCm38)	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746 (GRCm38)	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766 (GRCm38)	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824 (GRCm38)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726 (GRCm38)	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361 (GRCm38)	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668 (GRCm38)		probably null	Het
Csmd3	G	A	15: 47,741,170 (GRCm38)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976 (GRCm38)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361 (GRCm38)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103 (GRCm38)	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941 (GRCm38)	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024 (GRCm38)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761 (GRCm38)	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851 (GRCm38)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868 (GRCm38)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493 (GRCm38)	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448 (GRCm38)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793 (GRCm38)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162 (GRCm38)		probably null	Het
Ireb2	C	T	9: 54,881,518 (GRCm38)	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189 (GRCm38)	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011 (GRCm38)	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636 (GRCm38)	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643 (GRCm38)	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622 (GRCm38)	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998 (GRCm38)	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174 (GRCm38)	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802 (GRCm38)	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944 (GRCm38)	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161 (GRCm38)	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733 (GRCm38)	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516 (GRCm38)	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000 (GRCm38)	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812 (GRCm38)	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250 (GRCm38)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750 (GRCm38)		probably null	Het
Plxnc1	A	C	10: 94,841,551 (GRCm38)	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831 (GRCm38)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223 (GRCm38)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147 (GRCm38)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783 (GRCm38)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881 (GRCm38)	S219T	possibly damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Sdk2	T	C	11: 113,791,436 (GRCm38)	D2039G	possibly damaging	Het
Slc5a6	A	G	5: 31,042,644 (GRCm38)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080 (GRCm38)	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839 (GRCm38)	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616 (GRCm38)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371 (GRCm38)	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579 (GRCm38)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605 (GRCm38)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm38)	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961 (GRCm38)	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233 (GRCm38)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176 (GRCm38)	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669 (GRCm38)	R361*	probably null	Het
Vcan	T	C	13: 89,703,547 (GRCm38)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381 (GRCm38)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423 (GRCm38)	R6K	probably benign	Het
Zan	T	A	5: 137,403,050 (GRCm38)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zp3r	A	T	1: 130,582,880 (GRCm38)	N433K	probably benign	Het

Other mutations in Zfp606

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1861:Zfp606	UTSW	7	12,480,931 (GRCm38)	unclassified	probably benign
R1943:Zfp606	UTSW	7	12,493,688 (GRCm38)	missense	probably damaging	1.00
R2142:Zfp606	UTSW	7	12,479,726 (GRCm38)	missense	probably damaging	0.99
R2340:Zfp606	UTSW	7	12,493,089 (GRCm38)	missense	possibly damaging	0.91
R3426:Zfp606	UTSW	7	12,489,664 (GRCm38)	missense	probably damaging	0.99
R4208:Zfp606	UTSW	7	12,494,175 (GRCm38)	missense	probably damaging	1.00
R4258:Zfp606	UTSW	7	12,494,340 (GRCm38)	splice site	probably null
R4383:Zfp606	UTSW	7	12,494,001 (GRCm38)	missense	probably damaging	1.00
R4393:Zfp606	UTSW	7	12,492,849 (GRCm38)	missense	probably damaging	1.00
R4782:Zfp606	UTSW	7	12,494,005 (GRCm38)	missense	probably damaging	1.00
R4858:Zfp606	UTSW	7	12,493,056 (GRCm38)	missense	possibly damaging	0.89
R5668:Zfp606	UTSW	7	12,492,552 (GRCm38)	missense	probably benign	0.28
R5704:Zfp606	UTSW	7	12,493,529 (GRCm38)	missense	probably damaging	0.99
R6064:Zfp606	UTSW	7	12,481,033 (GRCm38)	missense	possibly damaging	0.82
R6080:Zfp606	UTSW	7	12,494,116 (GRCm38)	missense	probably damaging	1.00
R6190:Zfp606	UTSW	7	12,494,001 (GRCm38)	missense	probably damaging	1.00
R6383:Zfp606	UTSW	7	12,492,944 (GRCm38)	missense	probably benign	0.18
R6964:Zfp606	UTSW	7	12,489,592 (GRCm38)	missense	probably damaging	1.00
R7193:Zfp606	UTSW	7	12,494,039 (GRCm38)	missense	probably benign	0.32
R7507:Zfp606	UTSW	7	12,492,941 (GRCm38)	missense	probably benign	0.18
R7997:Zfp606	UTSW	7	12,494,207 (GRCm38)	missense	possibly damaging	0.86
R7997:Zfp606	UTSW	7	12,489,592 (GRCm38)	missense	probably damaging	1.00
R8078:Zfp606	UTSW	7	12,481,015 (GRCm38)	missense	possibly damaging	0.85
R8209:Zfp606	UTSW	7	12,493,307 (GRCm38)	missense	probably benign	0.13
R8254:Zfp606	UTSW	7	12,492,861 (GRCm38)	missense	possibly damaging	0.51
R8701:Zfp606	UTSW	7	12,481,098 (GRCm38)	missense	unknown
R8904:Zfp606	UTSW	7	12,489,579 (GRCm38)	missense	possibly damaging	0.71
R9196:Zfp606	UTSW	7	12,494,008 (GRCm38)	nonsense	probably null
R9214:Zfp606	UTSW	7	12,481,099 (GRCm38)	missense	unknown
R9321:Zfp606	UTSW	7	12,492,683 (GRCm38)	missense	possibly damaging	0.53
R9384:Zfp606	UTSW	7	12,494,008 (GRCm38)	nonsense	probably null
R9416:Zfp606	UTSW	7	12,493,980 (GRCm38)	missense	possibly damaging	0.86
Z1176:Zfp606	UTSW	7	12,481,025 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGAACGGACAcacactggagtaa -3'
(R):5'- TTTCTGATGTTGAAGTAAGGCCGAATGA -3'

Sequencing Primer
(F):5'- agttcccatctcattgccc -3'
(R):5'- gtttctcgccactatgcattc -3'

Posted On

2014-05-09