Incidental Mutation 'R0945:Zfp329'
ID |
82054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp329
|
Ensembl Gene |
ENSMUSG00000057894 |
Gene Name |
zinc finger protein 329 |
Synonyms |
4632409L22Rik, 2810439M05Rik |
MMRRC Submission |
039084-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0945 (G1)
|
Quality Score |
225 |
Status
|
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: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
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 |
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 |
|
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 |
|
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 |