Incidental Mutation 'R4383:Zfp606'
| ID |
325410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp606
|
| Ensembl Gene |
ENSMUSG00000030386 |
| Gene Name |
zinc finger protein 606 |
| Synonyms |
2410022M24Rik |
| MMRRC Submission |
041123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12212220-12230162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12227928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 625
(Y625F)
|
| 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: Y683F
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: Y683F
| 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: Y625F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1480 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
89% (32/36) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arih2 |
T |
G |
9: 108,521,476 (GRCm39) |
M1L |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,618,932 (GRCm39) |
T75A |
probably damaging |
Het |
| Baat |
C |
T |
4: 49,499,731 (GRCm39) |
A192T |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,081 (GRCm39) |
I552V |
probably benign |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Des |
T |
C |
1: 75,337,413 (GRCm39) |
F118L |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,280,128 (GRCm39) |
S130P |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,920,305 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Inmt |
C |
A |
6: 55,148,203 (GRCm39) |
C142F |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,060 (GRCm39) |
D1228E |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Msh2 |
G |
A |
17: 87,996,566 (GRCm39) |
E425K |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,043 (GRCm39) |
Y60H |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,992,161 (GRCm39) |
D326G |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,683 (GRCm39) |
K1272R |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,267,606 (GRCm39) |
A264T |
probably damaging |
Het |
| Ubr2 |
G |
C |
17: 47,250,313 (GRCm39) |
H1545D |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,678,529 (GRCm39) |
C1151S |
probably damaging |
Het |
| Zap70 |
C |
T |
1: 36,820,042 (GRCm39) |
R471W |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
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 |
|
|
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'- CGTTCAGCCCTTACAAAACATG -3'
(R):5'- TCTGATGTTGAAGTAAGGCCG -3'
Sequencing Primer
(F):5'- CCATTCTGGAATTAAGCCCTATG -3'
(R):5'- AAAGGCTCTTCCACACTGATTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation