Incidental Mutation 'R7738:Zfp518b'
ID |
596367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp518b
|
Ensembl Gene |
ENSMUSG00000046572 |
Gene Name |
zinc finger protein 518B |
Synonyms |
6820424L24Rik |
MMRRC Submission |
045794-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R7738 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
38825828-38842120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 38829530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 825
(T825I)
|
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: T825I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000061753 Gene: ENSMUSG00000046572 AA Change: T825I
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: T825I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137381 Gene: ENSMUSG00000046572 AA Change: T825I
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkal1 |
T |
A |
1: 6,459,728 (GRCm39) |
D101E |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,741,271 (GRCm39) |
A1538T |
|
Het |
Arhgap21 |
A |
G |
2: 20,854,290 (GRCm39) |
S1701P |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,855,169 (GRCm39) |
Y1408H |
probably damaging |
Het |
Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
Cep57l1 |
T |
A |
10: 41,616,842 (GRCm39) |
E148D |
probably damaging |
Het |
Clstn1 |
A |
C |
4: 149,719,811 (GRCm39) |
Q452P |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,151,004 (GRCm39) |
R1437L |
probably damaging |
Het |
Dcbld1 |
C |
T |
10: 52,188,922 (GRCm39) |
T249I |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,369,151 (GRCm39) |
E749G |
probably damaging |
Het |
Enox1 |
A |
C |
14: 77,815,220 (GRCm39) |
N126T |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,048,201 (GRCm39) |
L99Q |
probably damaging |
Het |
Fscn3 |
G |
A |
6: 28,434,445 (GRCm39) |
R340Q |
probably benign |
Het |
Glrb |
C |
T |
3: 80,767,491 (GRCm39) |
C243Y |
probably damaging |
Het |
Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,531,108 (GRCm39) |
K536E |
possibly damaging |
Het |
Igtp |
A |
G |
11: 58,097,906 (GRCm39) |
E359G |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,236,162 (GRCm39) |
D509G |
probably damaging |
Het |
Kbtbd2 |
C |
A |
6: 56,756,722 (GRCm39) |
S338I |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,253,986 (GRCm39) |
S1049P |
probably benign |
Het |
Ncoa3 |
C |
T |
2: 165,891,987 (GRCm39) |
A121V |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 56,069,414 (GRCm39) |
T647A |
possibly damaging |
Het |
Nip7 |
T |
C |
8: 107,783,997 (GRCm39) |
F79S |
probably damaging |
Het |
Nrxn3 |
A |
C |
12: 88,817,074 (GRCm39) |
E251D |
possibly damaging |
Het |
Olig2 |
T |
C |
16: 91,024,048 (GRCm39) |
I254T |
unknown |
Het |
Or55b4 |
C |
A |
7: 102,133,818 (GRCm39) |
V170F |
probably damaging |
Het |
Or5ac16 |
G |
A |
16: 59,022,318 (GRCm39) |
A157V |
probably benign |
Het |
Ostf1 |
A |
T |
19: 18,562,065 (GRCm39) |
L177* |
probably null |
Het |
Pabpc2 |
A |
T |
18: 39,907,319 (GRCm39) |
I195F |
possibly damaging |
Het |
Pacs1 |
A |
T |
19: 5,202,378 (GRCm39) |
M404K |
probably benign |
Het |
Pcdh1 |
A |
G |
18: 38,330,529 (GRCm39) |
S964P |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,436,012 (GRCm39) |
N659K |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,181,633 (GRCm39) |
Y537* |
probably null |
Het |
Plekhn1 |
G |
A |
4: 156,316,691 (GRCm39) |
T330M |
probably damaging |
Het |
Proc |
G |
A |
18: 32,260,532 (GRCm39) |
R198* |
probably null |
Het |
Rfx8 |
G |
T |
1: 39,722,091 (GRCm39) |
T298K |
probably damaging |
Het |
S1pr4 |
A |
C |
10: 81,334,341 (GRCm39) |
S378A |
probably benign |
Het |
Saxo5 |
T |
C |
8: 3,533,525 (GRCm39) |
F277S |
probably damaging |
Het |
Slfn2 |
T |
A |
11: 82,960,799 (GRCm39) |
F259L |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,289,527 (GRCm39) |
T242A |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,774,153 (GRCm39) |
N68S |
probably damaging |
Het |
Tmem44 |
A |
T |
16: 30,362,228 (GRCm39) |
S201T |
probably benign |
Het |
Ttc3 |
A |
T |
16: 94,188,241 (GRCm39) |
I177L |
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,559 (GRCm39) |
T106A |
probably damaging |
Het |
Vmn1r28 |
T |
C |
6: 58,243,039 (GRCm39) |
M294T |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,740,194 (GRCm39) |
N690K |
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 |
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 |
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'- GATGGAGTCACTGCTTCCTG -3'
(R):5'- GCAGGTCTGTCCCCAGTTTATC -3'
Sequencing Primer
(F):5'- TGGTGCCGTGCTGTACAC -3'
(R):5'- CCCCAGTTTATCAGTGCTAATGATGG -3'
|
Posted On |
2019-11-26 |