Incidental Mutation 'IGL01551:Zfp326'
| ID |
93263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp326
|
| Ensembl Gene |
ENSMUSG00000029290 |
| Gene Name |
zinc finger protein 326 |
| Synonyms |
5730470H14Rik, ZAN75 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
106024431-106063684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106036451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031227]
[ENSMUST00000138615]
[ENSMUST00000150440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031227
AA Change: S121P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: S121P
| 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 benign
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
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 |
|
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 |
|
R3702:Zfp326
|
UTSW |
5 |
106,036,709 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation