Incidental Mutation 'R0134:Zfp518b'
ID |
21814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp518b
|
Ensembl Gene |
ENSMUSG00000046572 |
Gene Name |
zinc finger protein 518B |
Synonyms |
6820424L24Rik |
MMRRC Submission |
038419-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0134 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 38832002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
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 null
Transcript: ENSMUST00000057258
AA Change: M1T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061753 Gene: ENSMUSG00000046572 AA Change: M1T
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 null
Transcript: ENSMUST00000178760
AA Change: M1T
|
Predicted Effect |
probably null
Transcript: ENSMUST00000179555
AA Change: M1T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000137381 Gene: ENSMUSG00000046572 AA Change: M1T
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 null
Transcript: ENSMUST00000180214
AA Change: M1T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136948 Gene: ENSMUSG00000046572 AA Change: M1T
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
138 |
160 |
2.32e-1 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.4%
- 20x: 93.3%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
T |
C |
19: 21,575,565 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
Arhgap23 |
G |
T |
11: 97,335,154 (GRCm39) |
V70L |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
Ddx50 |
A |
T |
10: 62,457,156 (GRCm39) |
|
probably benign |
Het |
Dele1 |
G |
A |
18: 38,394,317 (GRCm39) |
V505I |
probably benign |
Het |
Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
Efcab14 |
T |
C |
4: 115,597,728 (GRCm39) |
F108L |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,331,330 (GRCm39) |
N736S |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,948,881 (GRCm39) |
D908G |
possibly damaging |
Het |
Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
Hes1 |
T |
C |
16: 29,886,068 (GRCm39) |
V224A |
probably damaging |
Het |
Hps1 |
G |
T |
19: 42,754,619 (GRCm39) |
Q277K |
probably damaging |
Het |
Ighv15-2 |
T |
G |
12: 114,528,657 (GRCm39) |
|
probably benign |
Het |
Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
Itgae |
A |
C |
11: 73,002,168 (GRCm39) |
M91L |
probably benign |
Het |
Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,514,295 (GRCm39) |
S1215T |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,479,006 (GRCm39) |
V278A |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,636 (GRCm39) |
M2835V |
possibly damaging |
Het |
Map9 |
G |
A |
3: 82,267,290 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,218,657 (GRCm39) |
|
probably benign |
Het |
Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 25,490,089 (GRCm39) |
C546Y |
probably damaging |
Het |
Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,327,172 (GRCm39) |
D123G |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
Pnp2 |
T |
C |
14: 51,200,634 (GRCm39) |
F100S |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,408,658 (GRCm39) |
L47P |
possibly damaging |
Het |
Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
Rxfp1 |
A |
G |
3: 79,564,783 (GRCm39) |
S327P |
probably damaging |
Het |
Siah2 |
A |
G |
3: 58,583,536 (GRCm39) |
V250A |
probably damaging |
Het |
Siglecg |
G |
A |
7: 43,060,595 (GRCm39) |
G325D |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,423,787 (GRCm39) |
|
probably null |
Het |
Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,548,620 (GRCm39) |
L302P |
probably damaging |
Het |
Smyd1 |
G |
T |
6: 71,193,749 (GRCm39) |
T392N |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 49,127,507 (GRCm39) |
L57Q |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,067,150 (GRCm39) |
V2269I |
possibly damaging |
Het |
Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
Tsfm |
A |
G |
10: 126,858,798 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
Zfp108 |
A |
G |
7: 23,959,892 (GRCm39) |
H161R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGAAGGCTGCACTTAAAGCAGAC -3'
(R):5'- TCTGTGTCCACTGAGCCATTACAAC -3'
Sequencing Primer
(F):5'- AGCAGACATAAGTGTCTTGGCTC -3'
(R):5'- TGTTGCCTGGAAACAGAATTG -3'
|
Posted On |
2013-04-12 |