Incidental Mutation 'R3108:Zfp229'
| ID |
263682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp229
|
| Ensembl Gene |
ENSMUSG00000061544 |
| Gene Name |
zinc finger protein 229 |
| Synonyms |
|
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21949936-21967950 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21965797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 676
(C676S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065871]
[ENSMUST00000182603]
[ENSMUST00000182827]
[ENSMUST00000183192]
|
| AlphaFold |
E9PWT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065871
AA Change: C676S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065379
Gene: ENSMUSG00000061544
AA Change: C676S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
7.74e-30 |
SMART |
|
ZnF_C2H2
|
229 |
249 |
1.88e2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
562 |
584 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
590 |
612 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
618 |
640 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
646 |
668 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
674 |
696 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182603
AA Change: C676S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138107
Gene: ENSMUSG00000061544
AA Change: C676S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
7.74e-30 |
SMART |
|
Pfam:zf-C2H2_6
|
205 |
219 |
3.9e-1 |
PFAM |
|
ZnF_C2H2
|
229 |
249 |
1.88e2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
562 |
584 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
590 |
612 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
618 |
640 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
646 |
668 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
674 |
696 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182827
|
| SMART Domains |
Protein: ENSMUSP00000138478
Gene: ENSMUSG00000061544
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
7.74e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183192
|
| SMART Domains |
Protein: ENSMUSP00000138265
Gene: ENSMUSG00000061544
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
7.74e-30 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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 |
| Zfp169 |
A |
G |
13: 48,643,472 (GRCm39) |
S552P |
possibly damaging |
Het |
|
| Other mutations in Zfp229 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00733:Zfp229
|
APN |
17 |
21,958,483 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0268:Zfp229
|
UTSW |
17 |
21,964,822 (GRCm39) |
missense |
probably benign |
|
|
R0344:Zfp229
|
UTSW |
17 |
21,964,822 (GRCm39) |
missense |
probably benign |
|
|
R0608:Zfp229
|
UTSW |
17 |
21,965,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Zfp229
|
UTSW |
17 |
21,964,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Zfp229
|
UTSW |
17 |
21,965,258 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2519:Zfp229
|
UTSW |
17 |
21,964,568 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2937:Zfp229
|
UTSW |
17 |
21,964,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Zfp229
|
UTSW |
17 |
21,965,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Zfp229
|
UTSW |
17 |
21,964,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Zfp229
|
UTSW |
17 |
21,964,183 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3850:Zfp229
|
UTSW |
17 |
21,964,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Zfp229
|
UTSW |
17 |
21,965,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4731:Zfp229
|
UTSW |
17 |
21,964,267 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4732:Zfp229
|
UTSW |
17 |
21,964,267 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4733:Zfp229
|
UTSW |
17 |
21,964,267 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4818:Zfp229
|
UTSW |
17 |
21,962,885 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4929:Zfp229
|
UTSW |
17 |
21,965,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Zfp229
|
UTSW |
17 |
21,964,017 (GRCm39) |
splice site |
probably null |
|
|
R7124:Zfp229
|
UTSW |
17 |
21,961,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7511:Zfp229
|
UTSW |
17 |
21,964,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Zfp229
|
UTSW |
17 |
21,964,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Zfp229
|
UTSW |
17 |
21,965,131 (GRCm39) |
nonsense |
probably null |
|
|
R8396:Zfp229
|
UTSW |
17 |
21,965,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Zfp229
|
UTSW |
17 |
21,965,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Zfp229
|
UTSW |
17 |
21,964,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Zfp229
|
UTSW |
17 |
21,964,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Zfp229
|
UTSW |
17 |
21,964,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Zfp229
|
UTSW |
17 |
21,965,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9029:Zfp229
|
UTSW |
17 |
21,964,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9162:Zfp229
|
UTSW |
17 |
21,964,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Zfp229
|
UTSW |
17 |
21,964,573 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9726:Zfp229
|
UTSW |
17 |
21,965,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Zfp229
|
UTSW |
17 |
21,965,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp229
|
UTSW |
17 |
21,962,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAGGCCTTCTATCAACTATCTC -3'
(R):5'- AGGCCTTCTCAGATTTCCCATG -3'
Sequencing Primer
(F):5'- AGGCCTTCTATCAACTATCTCATCTG -3'
(R):5'- CCCATGTTCATAATGTTTTTCTGGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation