Incidental Mutation 'R3702:Zfp326'
ID |
258556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp326
|
Ensembl Gene |
ENSMUSG00000029290 |
Gene Name |
zinc finger protein 326 |
Synonyms |
5730470H14Rik, ZAN75 |
MMRRC Submission |
040695-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.496)
|
Stock # |
R3702 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
106024431-106063684 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 106036709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031227]
[ENSMUST00000031227]
[ENSMUST00000138615]
[ENSMUST00000150440]
[ENSMUST00000150440]
[ENSMUST00000150440]
[ENSMUST00000150440]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031227
|
SMART Domains |
Protein: ENSMUSP00000031227 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
1.09e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
1.09e-7 |
PROSPERO |
low complexity region
|
63 |
69 |
N/A |
INTRINSIC |
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
coiled coil region
|
277 |
304 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
336 |
4.12e0 |
SMART |
ZnF_C2H2
|
405 |
430 |
1.78e2 |
SMART |
low complexity region
|
483 |
561 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000031227
|
SMART Domains |
Protein: ENSMUSP00000031227 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
1.09e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
1.09e-7 |
PROSPERO |
low complexity region
|
63 |
69 |
N/A |
INTRINSIC |
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
coiled coil region
|
277 |
304 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
336 |
4.12e0 |
SMART |
ZnF_C2H2
|
405 |
430 |
1.78e2 |
SMART |
low complexity region
|
483 |
561 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136558
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150109
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150440
|
SMART Domains |
Protein: ENSMUSP00000118976 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
2.38e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
2.38e-7 |
PROSPERO |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
ZnF_C2H2
|
223 |
247 |
4.12e0 |
SMART |
ZnF_C2H2
|
316 |
341 |
1.78e2 |
SMART |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150440
|
SMART Domains |
Protein: ENSMUSP00000118976 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
2.38e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
2.38e-7 |
PROSPERO |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
ZnF_C2H2
|
223 |
247 |
4.12e0 |
SMART |
ZnF_C2H2
|
316 |
341 |
1.78e2 |
SMART |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150440
|
SMART Domains |
Protein: ENSMUSP00000118976 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
2.38e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
2.38e-7 |
PROSPERO |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
ZnF_C2H2
|
223 |
247 |
4.12e0 |
SMART |
ZnF_C2H2
|
316 |
341 |
1.78e2 |
SMART |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150440
|
SMART Domains |
Protein: ENSMUSP00000118976 Gene: ENSMUSG00000029290
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
19 |
39 |
2.38e-7 |
PROSPERO |
internal_repeat_1
|
31 |
58 |
2.38e-7 |
PROSPERO |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
ZnF_C2H2
|
223 |
247 |
4.12e0 |
SMART |
ZnF_C2H2
|
316 |
341 |
1.78e2 |
SMART |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
|
Other mutations in Zfp326 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Zfp326
|
APN |
5 |
106,054,911 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00432:Zfp326
|
APN |
5 |
106,044,399 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01551:Zfp326
|
APN |
5 |
106,036,451 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03197:Zfp326
|
APN |
5 |
106,039,059 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4508001:Zfp326
|
UTSW |
5 |
106,062,556 (GRCm39) |
missense |
probably benign |
0.02 |
R0326:Zfp326
|
UTSW |
5 |
106,058,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Zfp326
|
UTSW |
5 |
106,026,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0634:Zfp326
|
UTSW |
5 |
106,034,069 (GRCm39) |
nonsense |
probably null |
|
R0850:Zfp326
|
UTSW |
5 |
106,026,663 (GRCm39) |
splice site |
probably null |
|
R1833:Zfp326
|
UTSW |
5 |
106,039,035 (GRCm39) |
nonsense |
probably null |
|
R2108:Zfp326
|
UTSW |
5 |
106,062,646 (GRCm39) |
utr 3 prime |
probably benign |
|
R2857:Zfp326
|
UTSW |
5 |
106,036,395 (GRCm39) |
missense |
probably benign |
0.11 |
R4690:Zfp326
|
UTSW |
5 |
106,054,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R5614:Zfp326
|
UTSW |
5 |
106,036,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R6212:Zfp326
|
UTSW |
5 |
106,058,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R6262:Zfp326
|
UTSW |
5 |
106,036,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R6274:Zfp326
|
UTSW |
5 |
106,053,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R6439:Zfp326
|
UTSW |
5 |
106,036,584 (GRCm39) |
missense |
probably null |
0.69 |
R6963:Zfp326
|
UTSW |
5 |
106,059,359 (GRCm39) |
nonsense |
probably null |
|
R8073:Zfp326
|
UTSW |
5 |
106,062,682 (GRCm39) |
missense |
unknown |
|
R8496:Zfp326
|
UTSW |
5 |
106,036,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R9781:Zfp326
|
UTSW |
5 |
106,062,825 (GRCm39) |
missense |
unknown |
|
Z1088:Zfp326
|
UTSW |
5 |
106,036,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAAATTGAGGCCTGGGTTTATG -3'
(R):5'- TCCATGAATAATCATCTCACACTGC -3'
Sequencing Primer
(F):5'- CCTGGGTTTATGGAGGACAGAG -3'
(R):5'- CTCACACTGCAACTTATTTTCTAAGG -3'
|
Posted On |
2015-01-23 |