Incidental Mutation 'R3108:Zfp169'
| ID |
263676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp169
|
| Ensembl Gene |
ENSMUSG00000050954 |
| Gene Name |
zinc finger protein 169 |
| Synonyms |
4930429A13Rik, 1700025J14Rik |
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48641123-48666927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48643472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 552
(S552P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110110]
[ENSMUST00000167682]
[ENSMUST00000176176]
[ENSMUST00000176949]
[ENSMUST00000176996]
[ENSMUST00000177530]
|
| AlphaFold |
E9Q3R6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110110
AA Change: S552P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: S552P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
5.5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167682
|
| SMART Domains |
Protein: ENSMUSP00000127591
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176176
|
| SMART Domains |
Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176949
|
| SMART Domains |
Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176996
|
| SMART Domains |
Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177474
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177530
AA Change: S552P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: S552P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
5.5e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.2625 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this locus does not result in an overt phenotype early in life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,973,333 (GRCm39) |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,119,453 (GRCm39) |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,898,226 (GRCm39) |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,918,132 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,669 (GRCm39) |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,050,670 (GRCm39) |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,076 (GRCm39) |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,256,903 (GRCm39) |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,146,790 (GRCm39) |
T210K |
probably null |
Het |
| Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,875 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,263,769 (GRCm39) |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,532,545 (GRCm39) |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,119,257 (GRCm39) |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,274,840 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,943,583 (GRCm39) |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,965,797 (GRCm39) |
C676S |
probably damaging |
Het |
|
| Other mutations in Zfp169 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Zfp169
|
APN |
13 |
48,644,239 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03329:Zfp169
|
APN |
13 |
48,644,270 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03382:Zfp169
|
APN |
13 |
48,644,639 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03394:Zfp169
|
APN |
13 |
48,643,400 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB010:Zfp169
|
UTSW |
13 |
48,643,957 (GRCm39) |
missense |
unknown |
|
|
BB020:Zfp169
|
UTSW |
13 |
48,643,957 (GRCm39) |
missense |
unknown |
|
|
R0571:Zfp169
|
UTSW |
13 |
48,643,166 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1714:Zfp169
|
UTSW |
13 |
48,652,330 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1784:Zfp169
|
UTSW |
13 |
48,643,295 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3689:Zfp169
|
UTSW |
13 |
48,660,377 (GRCm39) |
splice site |
probably benign |
|
|
R4444:Zfp169
|
UTSW |
13 |
48,643,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4665:Zfp169
|
UTSW |
13 |
48,644,339 (GRCm39) |
unclassified |
probably benign |
|
|
R4719:Zfp169
|
UTSW |
13 |
48,643,634 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4745:Zfp169
|
UTSW |
13 |
48,643,708 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5288:Zfp169
|
UTSW |
13 |
48,643,751 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5384:Zfp169
|
UTSW |
13 |
48,643,751 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5979:Zfp169
|
UTSW |
13 |
48,644,516 (GRCm39) |
unclassified |
probably benign |
|
|
R6053:Zfp169
|
UTSW |
13 |
48,652,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Zfp169
|
UTSW |
13 |
48,644,472 (GRCm39) |
unclassified |
probably benign |
|
|
R7084:Zfp169
|
UTSW |
13 |
48,652,339 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7679:Zfp169
|
UTSW |
13 |
48,651,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7933:Zfp169
|
UTSW |
13 |
48,643,957 (GRCm39) |
missense |
unknown |
|
|
R8298:Zfp169
|
UTSW |
13 |
48,651,853 (GRCm39) |
nonsense |
probably null |
|
|
R8322:Zfp169
|
UTSW |
13 |
48,644,575 (GRCm39) |
missense |
unknown |
|
|
R9047:Zfp169
|
UTSW |
13 |
48,652,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Zfp169
|
UTSW |
13 |
48,644,557 (GRCm39) |
missense |
unknown |
|
|
R9126:Zfp169
|
UTSW |
13 |
48,644,557 (GRCm39) |
missense |
unknown |
|
|
R9131:Zfp169
|
UTSW |
13 |
48,644,557 (GRCm39) |
missense |
unknown |
|
|
R9132:Zfp169
|
UTSW |
13 |
48,644,557 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACACAGGAATGGCTTC -3'
(R):5'- GAAGTTCAACCTCATCGGGCAC -3'
Sequencing Primer
(F):5'- CTAGCGAGGTTGAACTTCTGCC -3'
(R):5'- CCAGAGGATTCATACAGGGGAGTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation