Incidental Mutation 'R4275:Zfp518b'
ID |
324749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp518b
|
Ensembl Gene |
ENSMUSG00000046572 |
Gene Name |
zinc finger protein 518B |
Synonyms |
6820424L24Rik |
MMRRC Submission |
041646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R4275 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38829071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 978
(V978A)
|
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: V978A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061753 Gene: ENSMUSG00000046572 AA Change: V978A
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: V978A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137381 Gene: ENSMUSG00000046572 AA Change: V978A
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 |
|
Meta Mutation Damage Score |
0.5283 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
D3Ertd751e |
C |
A |
3: 41,710,589 (GRCm39) |
|
probably benign |
Het |
Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
Fam131b |
G |
A |
6: 42,298,241 (GRCm39) |
L43F |
probably damaging |
Het |
Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
Or5g27 |
T |
C |
2: 85,410,207 (GRCm39) |
V208A |
probably benign |
Het |
Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,493,684 (GRCm39) |
L245P |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,595,605 (GRCm39) |
V576D |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTAAAGACACACTGGGCG -3'
(R):5'- AATCCCGGCCGTTATTTCAAAG -3'
Sequencing Primer
(F):5'- GGTCGTCCGGCATCGAG -3'
(R):5'- GGCCGTTATTTCAAAGACCCC -3'
|
Posted On |
2015-06-24 |