Incidental Mutation 'R0948:Zfp329'
| ID |
81705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp329
|
| Ensembl Gene |
ENSMUSG00000057894 |
| Gene Name |
zinc finger protein 329 |
| Synonyms |
4632409L22Rik, 2810439M05Rik |
| MMRRC Submission |
039087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12538904-12552785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12545395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 43
(N43I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072222]
[ENSMUST00000108546]
[ENSMUST00000121215]
|
| AlphaFold |
Q6GQR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072222
AA Change: N43I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072079
Gene: ENSMUSG00000057894
AA Change: N43I
| 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
AA Change: N43I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104186
Gene: ENSMUSG00000057894
AA Change: N43I
| 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 benign
Transcript: ENSMUST00000121215
AA Change: N43I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113355
Gene: ENSMUSG00000057894
AA Change: N43I
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
| Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
| Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
| Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
| Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
| Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
| Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
| Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
| Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
| Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
| Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
| Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
| Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGCCGTCAGCAGTTCCCTTAAC -3'
(R):5'- AGCAGAGGTGTCTGACTCCTTGTC -3'
Sequencing Primer
(F):5'- CTTAACTGCATAACTTGGAGGGC -3'
(R):5'- CCTTTTCAGTATGGAACACGAGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation