Incidental Mutation 'IGL03231:Zfp618'
ID |
413907 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp618
|
Ensembl Gene |
ENSMUSG00000028358 |
Gene Name |
zinc finger protein 618 |
Synonyms |
Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
IGL03231
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
62883810-63057945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63012716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 167
(Y167H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030043]
[ENSMUST00000064814]
[ENSMUST00000107415]
|
AlphaFold |
Q80YY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030043
AA Change: Y143H
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030043 Gene: ENSMUSG00000028358 AA Change: Y143H
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
90 |
112 |
5.06e-2 |
SMART |
ZnF_C2H2
|
131 |
153 |
8.81e-2 |
SMART |
ZnF_C2H2
|
199 |
221 |
2.91e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064814
AA Change: Y167H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069275 Gene: ENSMUSG00000028358 AA Change: Y167H
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
114 |
136 |
5.06e-2 |
SMART |
ZnF_C2H2
|
155 |
177 |
8.81e-2 |
SMART |
ZnF_C2H2
|
243 |
265 |
2.91e-2 |
SMART |
low complexity region
|
288 |
295 |
N/A |
INTRINSIC |
ZnF_C2H2
|
298 |
320 |
2.53e-2 |
SMART |
PDB:2BW3|A
|
377 |
690 |
5e-8 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107415
AA Change: Y199H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103038 Gene: ENSMUSG00000028358 AA Change: Y199H
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
146 |
168 |
5.06e-2 |
SMART |
ZnF_C2H2
|
187 |
209 |
8.81e-2 |
SMART |
ZnF_C2H2
|
255 |
277 |
2.91e-2 |
SMART |
low complexity region
|
381 |
388 |
N/A |
INTRINSIC |
ZnF_C2H2
|
391 |
413 |
2.53e-2 |
SMART |
PDB:2BW3|A
|
479 |
783 |
9e-8 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
|
Other mutations in Zfp618 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01301:Zfp618
|
APN |
4 |
63,051,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01563:Zfp618
|
APN |
4 |
62,998,133 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01726:Zfp618
|
APN |
4 |
63,050,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02139:Zfp618
|
APN |
4 |
63,051,773 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02182:Zfp618
|
APN |
4 |
63,013,798 (GRCm39) |
splice site |
probably benign |
|
IGL02533:Zfp618
|
APN |
4 |
63,007,642 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03257:Zfp618
|
APN |
4 |
63,050,908 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU18:Zfp618
|
UTSW |
4 |
63,051,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03014:Zfp618
|
UTSW |
4 |
62,998,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Zfp618
|
UTSW |
4 |
63,051,171 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0408:Zfp618
|
UTSW |
4 |
63,004,809 (GRCm39) |
missense |
probably damaging |
0.97 |
R0685:Zfp618
|
UTSW |
4 |
63,052,011 (GRCm39) |
missense |
probably benign |
0.21 |
R1482:Zfp618
|
UTSW |
4 |
63,033,685 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1585:Zfp618
|
UTSW |
4 |
63,051,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R1649:Zfp618
|
UTSW |
4 |
63,013,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1744:Zfp618
|
UTSW |
4 |
63,004,871 (GRCm39) |
splice site |
probably benign |
|
R1793:Zfp618
|
UTSW |
4 |
63,051,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R1952:Zfp618
|
UTSW |
4 |
63,050,555 (GRCm39) |
splice site |
probably null |
|
R1996:Zfp618
|
UTSW |
4 |
63,049,452 (GRCm39) |
splice site |
probably null |
|
R3792:Zfp618
|
UTSW |
4 |
63,033,728 (GRCm39) |
intron |
probably benign |
|
R3803:Zfp618
|
UTSW |
4 |
63,051,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
R3838:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
R4009:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
R4010:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
R4565:Zfp618
|
UTSW |
4 |
63,039,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Zfp618
|
UTSW |
4 |
63,051,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5019:Zfp618
|
UTSW |
4 |
63,021,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R5154:Zfp618
|
UTSW |
4 |
63,051,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Zfp618
|
UTSW |
4 |
63,017,519 (GRCm39) |
missense |
probably benign |
|
R5354:Zfp618
|
UTSW |
4 |
62,998,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:Zfp618
|
UTSW |
4 |
63,013,729 (GRCm39) |
missense |
probably benign |
0.33 |
R5774:Zfp618
|
UTSW |
4 |
63,050,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Zfp618
|
UTSW |
4 |
63,036,803 (GRCm39) |
nonsense |
probably null |
|
R6101:Zfp618
|
UTSW |
4 |
63,051,478 (GRCm39) |
missense |
probably benign |
0.09 |
R6105:Zfp618
|
UTSW |
4 |
63,051,478 (GRCm39) |
missense |
probably benign |
0.09 |
R6478:Zfp618
|
UTSW |
4 |
63,050,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Zfp618
|
UTSW |
4 |
63,007,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Zfp618
|
UTSW |
4 |
63,013,622 (GRCm39) |
critical splice donor site |
probably null |
|
R7666:Zfp618
|
UTSW |
4 |
63,050,954 (GRCm39) |
nonsense |
probably null |
|
R7678:Zfp618
|
UTSW |
4 |
63,004,858 (GRCm39) |
missense |
probably benign |
0.07 |
R7975:Zfp618
|
UTSW |
4 |
63,049,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8276:Zfp618
|
UTSW |
4 |
63,051,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8421:Zfp618
|
UTSW |
4 |
63,051,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Zfp618
|
UTSW |
4 |
63,012,708 (GRCm39) |
missense |
probably benign |
0.09 |
R9022:Zfp618
|
UTSW |
4 |
63,012,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9150:Zfp618
|
UTSW |
4 |
63,039,603 (GRCm39) |
nonsense |
probably null |
|
R9163:Zfp618
|
UTSW |
4 |
63,051,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Zfp618
|
UTSW |
4 |
63,036,824 (GRCm39) |
missense |
probably damaging |
0.99 |
R9382:Zfp618
|
UTSW |
4 |
63,051,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R9424:Zfp618
|
UTSW |
4 |
63,051,282 (GRCm39) |
missense |
probably benign |
0.00 |
R9462:Zfp618
|
UTSW |
4 |
63,051,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9576:Zfp618
|
UTSW |
4 |
63,051,282 (GRCm39) |
missense |
probably benign |
0.00 |
R9587:Zfp618
|
UTSW |
4 |
63,051,916 (GRCm39) |
missense |
|
|
X0011:Zfp618
|
UTSW |
4 |
62,998,243 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Zfp618
|
UTSW |
4 |
63,051,000 (GRCm39) |
missense |
probably benign |
0.12 |
Z1176:Zfp618
|
UTSW |
4 |
63,013,734 (GRCm39) |
missense |
probably benign |
0.29 |
|
Posted On |
2016-08-02 |