Incidental Mutation 'B5639:Zfp667'
ID |
551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp667
|
Ensembl Gene |
ENSMUSG00000054893 |
Gene Name |
zinc finger protein 667 |
Synonyms |
A830025F02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
B5639
of strain
3d
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
6289578-6310882 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6293544 bp (GRCm39)
|
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 |
|
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: 20,819,264 (GRCm39) |
|
probably benign |
Het |
Eno1 |
A |
G |
4: 150,329,569 (GRCm39) |
|
probably benign |
Het |
Ercc8 |
G |
A |
13: 108,297,257 (GRCm39) |
G56R |
probably damaging |
Homo |
Fam237b |
C |
T |
5: 5,624,060 (GRCm39) |
|
probably benign |
Homo |
Idh1 |
A |
G |
1: 65,204,257 (GRCm39) |
|
probably null |
Homo |
Incenp |
G |
A |
19: 9,871,182 (GRCm39) |
T149I |
unknown |
Het |
Or5d16 |
G |
A |
2: 87,773,942 (GRCm39) |
S10F |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,889 (GRCm39) |
I15K |
probably benign |
Homo |
Pdk2 |
T |
C |
11: 94,923,324 (GRCm39) |
D100G |
possibly damaging |
Homo |
Prss56 |
T |
C |
1: 87,114,892 (GRCm39) |
L465P |
probably benign |
Homo |
Slc10a3 |
G |
A |
X: 73,413,145 (GRCm39) |
P416L |
probably damaging |
Homo |
Syne2 |
C |
A |
12: 75,976,564 (GRCm39) |
T1243K |
probably benign |
Het |
Vwf |
T |
C |
6: 125,619,947 (GRCm39) |
Y1542H |
probably damaging |
Homo |
Zc3h13 |
G |
A |
14: 75,553,479 (GRCm39) |
R302Q |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,468,235 (GRCm39) |
G2798W |
probably damaging |
Homo |
|
Other mutations in Zfp667 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:Zfp667
|
APN |
7 |
6,308,396 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01325:Zfp667
|
APN |
7 |
6,293,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01386:Zfp667
|
APN |
7 |
6,307,869 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01960:Zfp667
|
APN |
7 |
6,308,336 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03394:Zfp667
|
APN |
7 |
6,292,438 (GRCm39) |
critical splice donor site |
probably null |
|
R0458:Zfp667
|
UTSW |
7 |
6,307,844 (GRCm39) |
missense |
probably benign |
0.40 |
R0845:Zfp667
|
UTSW |
7 |
6,309,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1768:Zfp667
|
UTSW |
7 |
6,308,066 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1953:Zfp667
|
UTSW |
7 |
6,308,087 (GRCm39) |
missense |
probably benign |
0.04 |
R2023:Zfp667
|
UTSW |
7 |
6,308,416 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3159:Zfp667
|
UTSW |
7 |
6,308,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Zfp667
|
UTSW |
7 |
6,308,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4476:Zfp667
|
UTSW |
7 |
6,307,598 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4584:Zfp667
|
UTSW |
7 |
6,293,624 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4783:Zfp667
|
UTSW |
7 |
6,308,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5037:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5300:Zfp667
|
UTSW |
7 |
6,307,635 (GRCm39) |
missense |
probably benign |
|
R5311:Zfp667
|
UTSW |
7 |
6,308,715 (GRCm39) |
missense |
probably benign |
0.10 |
R5312:Zfp667
|
UTSW |
7 |
6,308,466 (GRCm39) |
missense |
probably benign |
|
R5340:Zfp667
|
UTSW |
7 |
6,308,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6262:Zfp667
|
UTSW |
7 |
6,307,973 (GRCm39) |
missense |
probably benign |
0.03 |
R7386:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8383:Zfp667
|
UTSW |
7 |
6,308,370 (GRCm39) |
missense |
probably damaging |
0.98 |
R8919:Zfp667
|
UTSW |
7 |
6,308,256 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9099:Zfp667
|
UTSW |
7 |
6,308,322 (GRCm39) |
missense |
probably benign |
0.00 |
R9422:Zfp667
|
UTSW |
7 |
6,308,321 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Zfp667
|
UTSW |
7 |
6,307,856 (GRCm39) |
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 |