Incidental Mutation 'IGL02710:Zfp518b'
| ID |
304522 |
| 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: 0.087)
|
| Stock # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38830061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 648
(V648A)
|
| 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 damaging
Transcript: ENSMUST00000057258
AA Change: V648A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: V648A
| 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 damaging
Transcript: ENSMUST00000179555
AA Change: V648A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: V648A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
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 |
|
IGL01096:Zfp518b
|
APN |
5 |
38,830,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation