Incidental Mutation 'R3687:Zfp518b'
ID |
269558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp518b
|
Ensembl Gene |
ENSMUSG00000046572 |
Gene Name |
zinc finger protein 518B |
Synonyms |
6820424L24Rik |
MMRRC Submission |
040683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R3687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38831455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 183
(H183Q)
|
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: H183Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061753 Gene: ENSMUSG00000046572 AA Change: H183Q
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: H183Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137381 Gene: ENSMUSG00000046572 AA Change: H183Q
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 |
0.7896 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,432,506 (GRCm39) |
V115M |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
C2cd3 |
C |
T |
7: 100,085,040 (GRCm39) |
P1544L |
probably benign |
Het |
Cd44 |
G |
A |
2: 102,731,695 (GRCm39) |
|
probably null |
Het |
Col10a1 |
A |
G |
10: 34,271,494 (GRCm39) |
T489A |
probably benign |
Het |
Dgkk |
T |
C |
X: 6,804,631 (GRCm39) |
|
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Elmo3 |
G |
A |
8: 106,035,468 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
T |
2: 54,770,074 (GRCm39) |
T289S |
probably benign |
Het |
Gm16485 |
T |
C |
9: 8,972,382 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
A |
T |
5: 105,428,132 (GRCm39) |
V143D |
probably damaging |
Het |
Gpr18 |
T |
C |
14: 122,149,873 (GRCm39) |
T51A |
probably damaging |
Het |
Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
Ighv1-24 |
T |
A |
12: 114,736,700 (GRCm39) |
I67F |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,075,658 (GRCm39) |
E554G |
probably benign |
Het |
Or10u4 |
A |
T |
10: 129,802,581 (GRCm39) |
|
probably null |
Het |
Or5b99 |
G |
A |
19: 12,976,466 (GRCm39) |
G39R |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,177 (GRCm39) |
Y60C |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,009 (GRCm39) |
T1049A |
unknown |
Het |
Pkhd1l1 |
T |
C |
15: 44,409,983 (GRCm39) |
S2497P |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,741,747 (GRCm39) |
V407A |
probably damaging |
Het |
Ppox |
A |
G |
1: 171,105,066 (GRCm39) |
L374S |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,617,831 (GRCm39) |
Y3221H |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,349,039 (GRCm39) |
I520F |
probably damaging |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rab3d |
A |
T |
9: 21,826,204 (GRCm39) |
M101K |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Tas2r114 |
T |
C |
6: 131,666,231 (GRCm39) |
T266A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trem3 |
T |
A |
17: 48,564,955 (GRCm39) |
V152D |
probably damaging |
Het |
Vmn2r4 |
T |
A |
3: 64,296,896 (GRCm39) |
I630F |
possibly damaging |
Het |
Vwa5b2 |
C |
A |
16: 20,410,308 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCCATGCTCTGCTTTGG -3'
(R):5'- CTGCGCATGTCAGAAATGAAAC -3'
Sequencing Primer
(F):5'- CCATGCTCTGCTTTGGGATGC -3'
(R):5'- GGAAACCATCTCGAGCCCTG -3'
|
Posted On |
2015-02-19 |