Incidental Mutation 'IGL01096:Zfp518b'
| ID |
51095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp518b
|
| Ensembl Gene |
ENSMUSG00000046572 |
| Gene Name |
zinc finger protein 518B |
| Synonyms |
6820424L24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL01096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38830131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 625
(T625A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057258]
[ENSMUST00000178760]
[ENSMUST00000179555]
[ENSMUST00000180214]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057258
AA Change: T625A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: T625A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
138 |
160 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.16e-1 |
SMART |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1044 |
1066 |
1.2e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179555
AA Change: T625A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: T625A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
138 |
160 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.16e-1 |
SMART |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1044 |
1066 |
1.2e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180214
|
| SMART Domains |
Protein: ENSMUSP00000136948
Gene: ENSMUSG00000046572
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
138 |
160 |
2.32e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,228,891 (GRCm39) |
K725E |
possibly damaging |
Het |
| Castor1 |
A |
C |
11: 4,171,850 (GRCm39) |
E309A |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,323,233 (GRCm39) |
H125Q |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,138,907 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,190,912 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
A |
G |
5: 138,794,910 (GRCm39) |
E513G |
possibly damaging |
Het |
| Gm9839 |
G |
T |
1: 32,559,917 (GRCm39) |
T55N |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,228,879 (GRCm39) |
M228L |
probably damaging |
Het |
| Hp |
A |
T |
8: 110,302,033 (GRCm39) |
M305K |
probably benign |
Het |
| Ifng |
T |
A |
10: 118,281,174 (GRCm39) |
|
probably benign |
Het |
| Igkv9-123 |
T |
C |
6: 67,931,449 (GRCm39) |
D39G |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,347,262 (GRCm39) |
F431I |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,653 (GRCm39) |
V136A |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,097 (GRCm39) |
S92T |
probably damaging |
Het |
| Or4p19 |
A |
G |
2: 88,242,135 (GRCm39) |
M289T |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,321 (GRCm39) |
L196W |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,129,412 (GRCm39) |
G253D |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,107,553 (GRCm39) |
Y655H |
probably damaging |
Het |
| Prss58 |
A |
T |
6: 40,872,399 (GRCm39) |
I208N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,718,430 (GRCm39) |
I2720F |
probably damaging |
Het |
| Slc13a1 |
G |
T |
6: 24,104,076 (GRCm39) |
T322K |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,970,691 (GRCm39) |
F1292L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,091 (GRCm39) |
T366A |
probably benign |
Het |
| Tmeff2 |
G |
A |
1: 50,969,705 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
C |
A |
11: 102,045,378 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
C |
A |
1: 44,000,048 (GRCm39) |
P389T |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,020,159 (GRCm39) |
Y1000H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,410,574 (GRCm39) |
N2407K |
probably damaging |
Het |
| Vmn1r94 |
C |
T |
7: 19,901,561 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,125 (GRCm39) |
I696F |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,313,662 (GRCm39) |
E90G |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,060 (GRCm39) |
|
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,187 (GRCm39) |
E445G |
probably benign |
Het |
|
| Other mutations in Zfp518b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Zfp518b
|
APN |
5 |
38,831,109 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02150:Zfp518b
|
APN |
5 |
38,831,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02150:Zfp518b
|
APN |
5 |
38,830,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Zfp518b
|
APN |
5 |
38,831,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02643:Zfp518b
|
APN |
5 |
38,831,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Zfp518b
|
APN |
5 |
38,830,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Zfp518b
|
UTSW |
5 |
38,832,002 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R0284:Zfp518b
|
UTSW |
5 |
38,829,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Zfp518b
|
UTSW |
5 |
38,830,113 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0421:Zfp518b
|
UTSW |
5 |
38,831,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Zfp518b
|
UTSW |
5 |
38,830,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Zfp518b
|
UTSW |
5 |
38,830,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Zfp518b
|
UTSW |
5 |
38,829,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Zfp518b
|
UTSW |
5 |
38,829,084 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1853:Zfp518b
|
UTSW |
5 |
38,830,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2015:Zfp518b
|
UTSW |
5 |
38,829,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Zfp518b
|
UTSW |
5 |
38,828,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3687:Zfp518b
|
UTSW |
5 |
38,831,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Zfp518b
|
UTSW |
5 |
38,829,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Zfp518b
|
UTSW |
5 |
38,830,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4603:Zfp518b
|
UTSW |
5 |
38,830,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4739:Zfp518b
|
UTSW |
5 |
38,831,841 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5519:Zfp518b
|
UTSW |
5 |
38,831,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Zfp518b
|
UTSW |
5 |
38,828,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Zfp518b
|
UTSW |
5 |
38,830,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7263:Zfp518b
|
UTSW |
5 |
38,829,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Zfp518b
|
UTSW |
5 |
38,831,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7354:Zfp518b
|
UTSW |
5 |
38,840,122 (GRCm39) |
start gained |
probably benign |
|
|
R7554:Zfp518b
|
UTSW |
5 |
38,830,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7738:Zfp518b
|
UTSW |
5 |
38,829,530 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7817:Zfp518b
|
UTSW |
5 |
38,829,741 (GRCm39) |
missense |
not run |
|
|
R8166:Zfp518b
|
UTSW |
5 |
38,831,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8471:Zfp518b
|
UTSW |
5 |
38,831,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8505:Zfp518b
|
UTSW |
5 |
38,830,119 (GRCm39) |
missense |
probably benign |
|
|
R9102:Zfp518b
|
UTSW |
5 |
38,831,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9205:Zfp518b
|
UTSW |
5 |
38,831,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Zfp518b
|
UTSW |
5 |
38,829,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9511:Zfp518b
|
UTSW |
5 |
38,829,395 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9574:Zfp518b
|
UTSW |
5 |
38,830,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9648:Zfp518b
|
UTSW |
5 |
38,830,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Zfp518b
|
UTSW |
5 |
38,831,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Zfp518b
|
UTSW |
5 |
38,831,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-06-21 |
Incidental Mutation