Incidental Mutation 'R9707:Zfp329'
ID |
729846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp329
|
Ensembl Gene |
ENSMUSG00000057894 |
Gene Name |
zinc finger protein 329 |
Synonyms |
4632409L22Rik, 2810439M05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9707 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12538904-12552785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12544129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 465
(Q465R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072222]
[ENSMUST00000108546]
[ENSMUST00000121215]
|
AlphaFold |
Q6GQR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072222
AA Change: Q465R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000072079 Gene: ENSMUSG00000057894 AA Change: Q465R
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 benign
Transcript: ENSMUST00000121215
AA Change: Q465R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000113355 Gene: ENSMUSG00000057894 AA Change: Q465R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambra1 |
G |
A |
2: 91,640,476 (GRCm39) |
R635H |
probably damaging |
Het |
Amz1 |
T |
C |
5: 140,733,949 (GRCm39) |
V175A |
possibly damaging |
Het |
Arsj |
T |
C |
3: 126,232,160 (GRCm39) |
I302T |
possibly damaging |
Het |
Asxl3 |
A |
G |
18: 22,656,304 (GRCm39) |
E1438G |
probably benign |
Het |
BC016579 |
C |
T |
16: 45,460,760 (GRCm39) |
E103K |
probably damaging |
Het |
Ccdc54 |
T |
A |
16: 50,411,163 (GRCm39) |
K34N |
possibly damaging |
Het |
Chac2 |
T |
C |
11: 30,929,572 (GRCm39) |
D55G |
possibly damaging |
Het |
Cts3 |
T |
A |
13: 61,714,649 (GRCm39) |
I219F |
possibly damaging |
Het |
Des |
A |
G |
1: 75,337,533 (GRCm39) |
M158V |
possibly damaging |
Het |
Dohh |
T |
C |
10: 81,223,565 (GRCm39) |
F206S |
probably damaging |
Het |
Dst |
T |
C |
1: 34,228,934 (GRCm39) |
S2176P |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,824,816 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
G |
A |
10: 25,378,235 (GRCm39) |
V836M |
probably damaging |
Het |
Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
Ighd |
T |
A |
12: 113,378,108 (GRCm39) |
N164Y |
|
Het |
Ighv1-53 |
A |
T |
12: 115,122,035 (GRCm39) |
Y113* |
probably null |
Het |
Ildr1 |
A |
G |
16: 36,529,892 (GRCm39) |
D93G |
probably damaging |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,408,414 (GRCm39) |
E1754G |
probably benign |
Het |
Mbd4 |
T |
A |
6: 115,826,559 (GRCm39) |
H144L |
probably benign |
Het |
Mcm7 |
C |
A |
5: 138,170,000 (GRCm39) |
A7S |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,794,605 (GRCm39) |
N532K |
possibly damaging |
Het |
Msr1 |
T |
G |
8: 40,076,988 (GRCm39) |
E207D |
probably benign |
Het |
Neurl4 |
A |
T |
11: 69,799,679 (GRCm39) |
D994V |
probably damaging |
Het |
Or1e35 |
A |
G |
11: 73,798,090 (GRCm39) |
V76A |
possibly damaging |
Het |
Or6c69b |
T |
C |
10: 129,627,444 (GRCm39) |
T5A |
probably damaging |
Het |
Or8s5 |
C |
T |
15: 98,238,154 (GRCm39) |
V239I |
probably benign |
Het |
Pcdhgb6 |
T |
C |
18: 37,876,768 (GRCm39) |
I492T |
possibly damaging |
Het |
Pde4c |
A |
G |
8: 71,202,701 (GRCm39) |
D669G |
probably benign |
Het |
Phf3 |
C |
A |
1: 30,868,923 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
T |
A |
5: 21,207,620 (GRCm39) |
T279S |
probably damaging |
Het |
Rbbp6 |
A |
T |
7: 122,589,061 (GRCm39) |
T287S |
probably damaging |
Het |
Slc22a21 |
T |
C |
11: 53,851,186 (GRCm39) |
N192S |
probably benign |
Het |
Slc46a3 |
G |
T |
5: 147,821,022 (GRCm39) |
H377N |
probably benign |
Het |
Smg9 |
G |
T |
7: 24,102,869 (GRCm39) |
R16L |
probably damaging |
Het |
Spmip2 |
A |
G |
3: 79,313,167 (GRCm39) |
I80M |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,758,300 (GRCm39) |
V848A |
possibly damaging |
Het |
Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,189 (GRCm39) |
E77G |
probably benign |
Het |
Usp16 |
T |
C |
16: 87,263,235 (GRCm39) |
S146P |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,890 (GRCm39) |
I29K |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,664,328 (GRCm39) |
C486R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGTCCATTATGTTTCCGTGGG -3'
(R):5'- ATATCTCATCAGGCATCAGAGGG -3'
Sequencing Primer
(F):5'- TCCGTGGGCTGCTCTTCAAG -3'
(R):5'- TGAGAAGCCGTACGGTTGTAACC -3'
|
Posted On |
2022-10-06 |