Incidental Mutation 'IGL02830:Zfp329'
| ID |
361407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp329
|
| Ensembl Gene |
ENSMUSG00000057894 |
| Gene Name |
zinc finger protein 329 |
| Synonyms |
4632409L22Rik, 2810439M05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12538904-12552785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 12544043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 494
(C494G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072222]
[ENSMUST00000108546]
[ENSMUST00000121215]
|
| AlphaFold |
Q6GQR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072222
AA Change: C494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072079
Gene: ENSMUSG00000057894
AA Change: C494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
184 |
206 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.2e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108546
|
| SMART Domains |
Protein: ENSMUSP00000104186
Gene: ENSMUSG00000057894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
184 |
206 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
1.22e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121215
AA Change: C494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113355
Gene: ENSMUSG00000057894
AA Change: C494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
184 |
206 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.2e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129647
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,348,235 (GRCm39) |
E67D |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,118 (GRCm39) |
F116I |
probably damaging |
Het |
| Acox2 |
G |
A |
14: 8,255,298 (GRCm38) |
T160I |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,506,608 (GRCm39) |
M444K |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,297,711 (GRCm39) |
D423G |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,128,946 (GRCm39) |
N282S |
probably benign |
Het |
| Cyp2c50 |
G |
A |
19: 40,086,500 (GRCm39) |
V296I |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,862,348 (GRCm39) |
H2471Q |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,107 (GRCm39) |
|
probably benign |
Het |
| Gfus |
C |
T |
15: 75,797,437 (GRCm39) |
V275I |
probably benign |
Het |
| Gimap8 |
G |
A |
6: 48,633,239 (GRCm39) |
A353T |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,702,787 (GRCm39) |
M900L |
possibly damaging |
Het |
| H1f0 |
T |
G |
15: 78,913,511 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,441,093 (GRCm39) |
V1456A |
possibly damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,096 (GRCm39) |
S157T |
possibly damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,341 (GRCm39) |
Y223H |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,214 (GRCm39) |
V672M |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,592,393 (GRCm39) |
L34F |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,530,881 (GRCm39) |
V1386I |
probably damaging |
Het |
| Or14c39 |
T |
G |
7: 86,344,382 (GRCm39) |
C239W |
probably damaging |
Het |
| Or4b13 |
A |
T |
2: 90,083,125 (GRCm39) |
I69N |
probably damaging |
Het |
| Or51b6 |
C |
T |
7: 103,555,651 (GRCm39) |
P2S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,416 (GRCm39) |
S205P |
possibly damaging |
Het |
| Orc5 |
A |
T |
5: 22,734,265 (GRCm39) |
L173Q |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,930 (GRCm39) |
D880E |
probably benign |
Het |
| Pde12 |
T |
C |
14: 26,389,740 (GRCm39) |
Y323C |
probably damaging |
Het |
| Pde8b |
G |
T |
13: 95,189,409 (GRCm39) |
D198E |
probably benign |
Het |
| Prom2 |
T |
A |
2: 127,376,989 (GRCm39) |
I542F |
possibly damaging |
Het |
| Ptprj |
G |
A |
2: 90,283,488 (GRCm39) |
T952I |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,016,458 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,520,142 (GRCm39) |
R214K |
probably damaging |
Het |
| Senp5 |
G |
A |
16: 31,802,303 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,271,517 (GRCm39) |
R249W |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,711,441 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,183,180 (GRCm39) |
T241A |
probably benign |
Het |
| Tac1 |
G |
A |
6: 7,555,650 (GRCm39) |
V13I |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,430 (GRCm39) |
D138V |
probably null |
Het |
| Tspan32 |
T |
A |
7: 142,571,329 (GRCm39) |
M159K |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,105 (GRCm39) |
T2380S |
probably benign |
Het |
| Ubc |
T |
A |
5: 125,464,377 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,204,584 (GRCm39) |
S268P |
possibly damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,884 (GRCm39) |
H850Q |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,900,234 (GRCm39) |
|
probably null |
Het |
| Zfp54 |
T |
C |
17: 21,653,718 (GRCm39) |
S71P |
probably damaging |
Het |
|
| Other mutations in Zfp329 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02501:Zfp329
|
APN |
7 |
12,545,106 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0069:Zfp329
|
UTSW |
7 |
12,544,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0069:Zfp329
|
UTSW |
7 |
12,544,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0122:Zfp329
|
UTSW |
7 |
12,544,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Zfp329
|
UTSW |
7 |
12,544,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Zfp329
|
UTSW |
7 |
12,544,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Zfp329
|
UTSW |
7 |
12,540,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0570:Zfp329
|
UTSW |
7 |
12,544,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0682:Zfp329
|
UTSW |
7 |
12,544,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R0812:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R0944:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R0945:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R0946:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R0948:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R1632:Zfp329
|
UTSW |
7 |
12,544,876 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1980:Zfp329
|
UTSW |
7 |
12,545,395 (GRCm39) |
missense |
probably benign |
|
|
R2172:Zfp329
|
UTSW |
7 |
12,544,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Zfp329
|
UTSW |
7 |
12,544,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Zfp329
|
UTSW |
7 |
12,541,840 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4383:Zfp329
|
UTSW |
7 |
12,545,584 (GRCm39) |
start gained |
probably benign |
|
|
R4384:Zfp329
|
UTSW |
7 |
12,545,584 (GRCm39) |
start gained |
probably benign |
|
|
R4692:Zfp329
|
UTSW |
7 |
12,544,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Zfp329
|
UTSW |
7 |
12,540,453 (GRCm39) |
unclassified |
probably benign |
|
|
R5327:Zfp329
|
UTSW |
7 |
12,545,421 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5679:Zfp329
|
UTSW |
7 |
12,543,958 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6886:Zfp329
|
UTSW |
7 |
12,544,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6904:Zfp329
|
UTSW |
7 |
12,540,457 (GRCm39) |
unclassified |
probably benign |
|
|
R7304:Zfp329
|
UTSW |
7 |
12,544,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7564:Zfp329
|
UTSW |
7 |
12,544,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Zfp329
|
UTSW |
7 |
12,544,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Zfp329
|
UTSW |
7 |
12,544,116 (GRCm39) |
nonsense |
probably null |
|
|
R8788:Zfp329
|
UTSW |
7 |
12,544,490 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9206:Zfp329
|
UTSW |
7 |
12,545,085 (GRCm39) |
missense |
probably benign |
|
|
R9497:Zfp329
|
UTSW |
7 |
12,544,215 (GRCm39) |
nonsense |
probably null |
|
|
R9656:Zfp329
|
UTSW |
7 |
12,544,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Zfp329
|
UTSW |
7 |
12,544,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation