Incidental Mutation 'R4256:Zfp329'
| ID |
371102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp329
|
| Ensembl Gene |
ENSMUSG00000057894 |
| Gene Name |
zinc finger protein 329 |
| Synonyms |
4632409L22Rik, 2810439M05Rik |
| MMRRC Submission |
041069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4256 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12538904-12552785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12541840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 284
(V284A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072222]
[ENSMUST00000108546]
[ENSMUST00000121215]
[ENSMUST00000210650]
|
| AlphaFold |
Q6GQR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072222
|
| SMART Domains |
Protein: ENSMUSP00000072079
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 |
|
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: V284A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104186
Gene: ENSMUSG00000057894
AA Change: V284A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113355
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 |
|
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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210650
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (41/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
| Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,881,510 (GRCm39) |
T281A |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,542,758 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
| Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
| Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
| Lgals12 |
T |
G |
19: 7,584,081 (GRCm39) |
E5D |
possibly damaging |
Het |
| Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
| Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
| Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
| Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Slc7a10 |
G |
T |
7: 34,898,140 (GRCm39) |
M297I |
probably damaging |
Het |
| Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
| Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
| Vmp1 |
T |
A |
11: 86,552,014 (GRCm39) |
I117L |
probably benign |
Het |
| Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly 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 |
|
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'- CTGAAAATTGCCCAGGTTGC -3'
(R):5'- AGGCATTAGCAAATACCTAGTGG -3'
Sequencing Primer
(F):5'- TGCACTGGAAGTCATCTGGAACTC -3'
(R):5'- GACTGTCTATATCACTCAAGGGTGC -3'
|
| Posted On |
2016-02-17 |
Incidental Mutation