Mutagenetix > Incidental Mutations

Incidental Mutation 'B5639:Zfp667'

551

Institutional Source

Beutler Lab

Gene Symbol

Zfp667

Ensembl Gene

ENSMUSG00000054893

Gene Name

zinc finger protein 667

Synonyms

A830025F02Rik

Accession Numbers

Genbank: NM_001024928

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

B5639 of strain 3d

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6286579-6307883 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6290545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 15 (T15A)

Ref Sequence

ENSEMBL: ENSMUSP00000146573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086327] [ENSMUST00000108562] [ENSMUST00000153840] [ENSMUST00000170776]

AlphaFold

Q2TL60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086327
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000083507
Gene: ENSMUSG00000054893
AA Change: T15A

Domain	Start	End	E-Value	Type
KRAB	14	74	4.77e-30	SMART
ZnF_C2H2	144	166	5.42e-2	SMART
ZnF_C2H2	172	194	3.11e-2	SMART
ZnF_C2H2	200	222	1.67e-2	SMART
ZnF_C2H2	253	275	2.57e-3	SMART
ZnF_C2H2	329	351	2.4e-3	SMART
ZnF_C2H2	357	379	3.16e-3	SMART
ZnF_C2H2	385	407	8.94e-3	SMART
ZnF_C2H2	414	436	5.06e-2	SMART
ZnF_C2H2	442	464	2.4e-3	SMART
ZnF_C2H2	470	492	5.29e-5	SMART
ZnF_C2H2	498	520	7.37e-4	SMART
ZnF_C2H2	526	548	1.38e-3	SMART
ZnF_C2H2	554	576	1.13e-4	SMART
ZnF_C2H2	582	604	1.38e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108562
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104202
Gene: ENSMUSG00000054893
AA Change: T15A

Domain	Start	End	E-Value	Type
KRAB	14	74	4.77e-30	SMART
ZnF_C2H2	144	166	5.42e-2	SMART
ZnF_C2H2	172	194	3.11e-2	SMART
ZnF_C2H2	200	222	1.67e-2	SMART
ZnF_C2H2	253	275	2.57e-3	SMART
ZnF_C2H2	329	351	2.4e-3	SMART
ZnF_C2H2	357	379	3.16e-3	SMART
ZnF_C2H2	385	407	8.94e-3	SMART
ZnF_C2H2	414	436	5.06e-2	SMART
ZnF_C2H2	442	464	2.4e-3	SMART
ZnF_C2H2	470	492	5.29e-5	SMART
ZnF_C2H2	498	520	7.37e-4	SMART
ZnF_C2H2	526	548	1.38e-3	SMART
ZnF_C2H2	554	576	1.13e-4	SMART
ZnF_C2H2	582	604	1.38e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147784

Predicted Effect

probably damaging
Transcript: ENSMUST00000153840
AA Change: T15A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170776
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128658
Gene: ENSMUSG00000054893
AA Change: T15A

Domain	Start	End	E-Value	Type
KRAB	14	74	4.77e-30	SMART
ZnF_C2H2	144	166	5.42e-2	SMART
ZnF_C2H2	172	194	3.11e-2	SMART
ZnF_C2H2	200	222	1.67e-2	SMART
ZnF_C2H2	253	275	2.57e-3	SMART
ZnF_C2H2	329	351	2.4e-3	SMART
ZnF_C2H2	357	379	3.16e-3	SMART
ZnF_C2H2	385	407	8.94e-3	SMART
ZnF_C2H2	414	436	5.06e-2	SMART
ZnF_C2H2	442	464	2.4e-3	SMART
ZnF_C2H2	470	492	5.29e-5	SMART
ZnF_C2H2	498	520	7.37e-4	SMART
ZnF_C2H2	526	548	1.38e-3	SMART
ZnF_C2H2	554	576	1.13e-4	SMART
ZnF_C2H2	582	604	1.38e-3	SMART

Meta Mutation Damage Score

0.4318

Coding Region Coverage

1x: 89.7%
3x: 78.3%

Het Detection Efficiency

55.9%

Validation Efficiency

83% (206/248)

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt1	G	A	9: 20,907,968		probably benign	Het
Eno1	A	G	4: 150,245,112		probably benign	Het
Ercc8	G	A	13: 108,160,723	G56R	probably damaging	Homo
Gm8773	C	T	5: 5,574,060		probably benign	Homo
Idh1	A	G	1: 65,165,098		probably null	Homo
Incenp	G	A	19: 9,893,818	T149I	unknown	Het
Olfr1155	G	A	2: 87,943,598	S10F	probably benign	Het
Olfr181	A	T	16: 58,926,526	I15K	probably benign	Homo
Pdk2	T	C	11: 95,032,498	D100G	possibly damaging	Homo
Prss56	T	C	1: 87,187,170	L465P	probably benign	Homo
Slc10a3	G	A	X: 74,369,539	P416L	probably damaging	Homo
Syne2	C	A	12: 75,929,790	T1243K	probably benign	Het
Vwf	T	C	6: 125,642,984	Y1542H	probably damaging	Homo
Zc3h13	G	A	14: 75,316,039	R302Q	probably damaging	Het
Zfhx4	G	T	3: 5,403,175	G2798W	probably damaging	Homo

Other mutations in Zfp667

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Zfp667	APN	7	6305397	missense	possibly damaging	0.53
IGL01325:Zfp667	APN	7	6290546	missense	probably damaging	1.00
IGL01386:Zfp667	APN	7	6304870	missense	probably benign	0.00
IGL01960:Zfp667	APN	7	6305337	missense	probably benign	0.00
IGL03394:Zfp667	APN	7	6289439	critical splice donor site	probably null
R0458:Zfp667	UTSW	7	6304845	missense	probably benign	0.40
R0845:Zfp667	UTSW	7	6306092	missense	possibly damaging	0.85
R1768:Zfp667	UTSW	7	6305067	missense	possibly damaging	0.53
R1953:Zfp667	UTSW	7	6305088	missense	probably benign	0.04
R2023:Zfp667	UTSW	7	6305417	missense	possibly damaging	0.85
R3159:Zfp667	UTSW	7	6306000	missense	probably damaging	1.00
R4080:Zfp667	UTSW	7	6305106	missense	possibly damaging	0.71
R4476:Zfp667	UTSW	7	6304599	missense	possibly damaging	0.53
R4584:Zfp667	UTSW	7	6290625	missense	possibly damaging	0.84
R4783:Zfp667	UTSW	7	6305685	missense	possibly damaging	0.83
R5037:Zfp667	UTSW	7	6305950	missense	possibly damaging	0.71
R5300:Zfp667	UTSW	7	6304636	missense	probably benign
R5311:Zfp667	UTSW	7	6305716	missense	probably benign	0.10
R5312:Zfp667	UTSW	7	6305467	missense	probably benign
R5340:Zfp667	UTSW	7	6305253	missense	possibly damaging	0.53
R6262:Zfp667	UTSW	7	6304974	missense	probably benign	0.03
R7386:Zfp667	UTSW	7	6305950	missense	possibly damaging	0.86
R8383:Zfp667	UTSW	7	6305371	missense	probably damaging	0.98
R8919:Zfp667	UTSW	7	6305257	missense	possibly damaging	0.53
R9099:Zfp667	UTSW	7	6305323	missense	probably benign	0.00
R9422:Zfp667	UTSW	7	6305322	missense	probably benign	0.00
Z1177:Zfp667	UTSW	7	6304857	missense	possibly damaging	0.91

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 165 of the Zfp667 transcript, in exon 3 of 5 total exons (NM_001024928). Multiple transcripts are annotated in the Vega and Ensembl databases. The mutation causes a threonine to alanine change at amino acid 15 of the encoded protein (NP_001020099). The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The 609 amino acid Zfp667 protein is a member of the Kruppel C2H2 zinc finger protein family. It contains fourteen C2H2-type zinc fingers and one Kruppel-associated box (KRAB) domain. Zfp667 was first cloned from rat heart after a transient myocardial ischemia/reperfusion procedure. It is localized to the nucleus, and has been shown to act as a transcriptional repressor by binding to the consensus sequence 5'-TGTCTTATCGAA-3'.

The mutation is predicted to be probably damaging by the PolyPhen-2 program.

References

1. Wang, G., Zuo, X., Yuan, C., Zheng, Y., Jiang, L., Song, J., Liu, Y., Zhang, B., and Xiao, X. (2009) Mipu1, a Novel Rat Zinc-Finger Protein, Inhibits Transcriptional Activities of AP-1 and SRE in Mitogen-Activated Protein Kinase Signaling Pathway. Mol. Cell. Biochem.. 322, 93-102.

2. Jiang, L., Tang, D., Wang, K., Zhang, H., Yuan, C., Duan, D., and Xiao, X. (2007) Functional Analysis of a Novel KRAB/C2H2 Zinc Finger Protein Mipu1. Biochem. Biophys. Res. Commun.. 356, 829-835.

Posted On

2010-11-24