Incidental Mutation 'IGL02501:Zfp329'
| ID |
296060 |
| 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 # |
IGL02501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12538904-12552785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12545106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 139
(H139Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072222]
[ENSMUST00000108546]
[ENSMUST00000121215]
|
| AlphaFold |
Q6GQR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072222
AA Change: H139Q
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072079
Gene: ENSMUSG00000057894
AA Change: H139Q
| 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 |
possibly damaging
Transcript: ENSMUST00000108546
AA Change: H139Q
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104186
Gene: ENSMUSG00000057894
AA Change: H139Q
| 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 |
possibly damaging
Transcript: ENSMUST00000121215
AA Change: H139Q
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113355
Gene: ENSMUSG00000057894
AA Change: H139Q
| 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 |
|---|
| Adad1 |
A |
T |
3: 37,137,489 (GRCm39) |
I307F |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
| Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
| Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,098,295 (GRCm39) |
T759S |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
| Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
| Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,542,712 (GRCm39) |
S371P |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
| Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
| Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
| Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
| Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
| Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
| Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
| Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
| Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
| Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,234,534 (GRCm39) |
V3E |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,632,873 (GRCm39) |
H285Q |
probably benign |
Het |
| Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
|
| Other mutations in Zfp329 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02830:Zfp329
|
APN |
7 |
12,544,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation