Incidental Mutation 'IGL03197:Zfp326'
| ID |
412848 |
| 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 # |
IGL03197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
106024431-106063684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106039059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 231
(I231V)
|
| 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 benign
Transcript: ENSMUST00000031227
AA Change: I231V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: I231V
| 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
AA Change: I142V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118976
Gene: ENSMUSG00000029290
AA Change: I142V
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
| Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
| Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
| Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
| Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
| Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
| Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
| Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
| Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
| Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
| Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
| Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation