Incidental Mutation 'IGL00985:Zim1'
ID |
27956 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zim1
|
Ensembl Gene |
ENSMUSG00000002266 |
Gene Name |
zinc finger, imprinted 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL00985
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6685759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 83
(Y83F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002336]
[ENSMUST00000122432]
[ENSMUST00000203908]
|
AlphaFold |
Q8C393 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002336
AA Change: Y83F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000002336 Gene: ENSMUSG00000002266 AA Change: Y83F
Domain | Start | End | E-Value | Type |
KRAB
|
50 |
110 |
5.78e-29 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
ZnF_C2H2
|
269 |
291 |
5.59e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
2.05e-2 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.4e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
8.6e-5 |
SMART |
ZnF_C2H2
|
381 |
403 |
8.47e-4 |
SMART |
ZnF_C2H2
|
409 |
431 |
2.71e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
6.88e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.32e-3 |
SMART |
ZnF_C2H2
|
493 |
515 |
1.56e-2 |
SMART |
ZnF_C2H2
|
521 |
543 |
3.95e-4 |
SMART |
ZnF_C2H2
|
549 |
571 |
7.49e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122432
AA Change: Y83F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113585 Gene: ENSMUSG00000002266 AA Change: Y83F
Domain | Start | End | E-Value | Type |
KRAB
|
50 |
110 |
5.78e-29 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
ZnF_C2H2
|
269 |
291 |
5.59e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
2.05e-2 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.4e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
8.6e-5 |
SMART |
ZnF_C2H2
|
381 |
403 |
8.47e-4 |
SMART |
ZnF_C2H2
|
409 |
431 |
2.71e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
6.88e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.32e-3 |
SMART |
ZnF_C2H2
|
493 |
515 |
1.56e-2 |
SMART |
ZnF_C2H2
|
521 |
543 |
3.95e-4 |
SMART |
ZnF_C2H2
|
549 |
571 |
7.49e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203908
AA Change: Y83F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145453 Gene: ENSMUSG00000002266 AA Change: Y83F
Domain | Start | End | E-Value | Type |
KRAB
|
50 |
110 |
5.78e-29 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
ZnF_C2H2
|
269 |
291 |
5.59e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
2.05e-2 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.4e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
8.6e-5 |
SMART |
ZnF_C2H2
|
381 |
403 |
8.47e-4 |
SMART |
ZnF_C2H2
|
409 |
431 |
2.71e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
6.88e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.32e-3 |
SMART |
ZnF_C2H2
|
493 |
515 |
1.56e-2 |
SMART |
ZnF_C2H2
|
521 |
543 |
3.95e-4 |
SMART |
ZnF_C2H2
|
549 |
571 |
7.49e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213399
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
|
Other mutations in Zim1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01921:Zim1
|
APN |
7 |
6,685,184 (GRCm39) |
splice site |
probably benign |
|
IGL02116:Zim1
|
APN |
7 |
6,681,253 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02252:Zim1
|
APN |
7 |
6,691,627 (GRCm39) |
missense |
unknown |
|
IGL02354:Zim1
|
APN |
7 |
6,685,873 (GRCm39) |
splice site |
probably null |
|
IGL02361:Zim1
|
APN |
7 |
6,685,873 (GRCm39) |
splice site |
probably null |
|
IGL03025:Zim1
|
APN |
7 |
6,685,058 (GRCm39) |
missense |
probably benign |
0.00 |
R0003:Zim1
|
UTSW |
7 |
6,679,947 (GRCm39) |
missense |
probably benign |
0.01 |
R1347:Zim1
|
UTSW |
7 |
6,680,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Zim1
|
UTSW |
7 |
6,680,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1483:Zim1
|
UTSW |
7 |
6,685,124 (GRCm39) |
missense |
probably benign |
0.00 |
R2106:Zim1
|
UTSW |
7 |
6,681,073 (GRCm39) |
missense |
probably benign |
0.02 |
R2315:Zim1
|
UTSW |
7 |
6,680,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2508:Zim1
|
UTSW |
7 |
6,680,430 (GRCm39) |
small insertion |
probably benign |
|
R2508:Zim1
|
UTSW |
7 |
6,680,429 (GRCm39) |
small insertion |
probably benign |
|
R3706:Zim1
|
UTSW |
7 |
6,680,290 (GRCm39) |
missense |
probably damaging |
0.97 |
R3975:Zim1
|
UTSW |
7 |
6,680,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R5524:Zim1
|
UTSW |
7 |
6,680,320 (GRCm39) |
missense |
probably benign |
0.34 |
R5557:Zim1
|
UTSW |
7 |
6,680,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R5843:Zim1
|
UTSW |
7 |
6,680,697 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5844:Zim1
|
UTSW |
7 |
6,681,115 (GRCm39) |
missense |
probably benign |
0.21 |
R5882:Zim1
|
UTSW |
7 |
6,685,737 (GRCm39) |
critical splice donor site |
probably null |
|
R6828:Zim1
|
UTSW |
7 |
6,680,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R6953:Zim1
|
UTSW |
7 |
6,690,706 (GRCm39) |
missense |
unknown |
|
R7080:Zim1
|
UTSW |
7 |
6,680,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7148:Zim1
|
UTSW |
7 |
6,681,220 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7199:Zim1
|
UTSW |
7 |
6,680,872 (GRCm39) |
nonsense |
probably null |
|
R7332:Zim1
|
UTSW |
7 |
6,680,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7462:Zim1
|
UTSW |
7 |
6,680,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Zim1
|
UTSW |
7 |
6,685,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R9480:Zim1
|
UTSW |
7 |
6,681,050 (GRCm39) |
missense |
probably benign |
0.20 |
R9510:Zim1
|
UTSW |
7 |
6,690,739 (GRCm39) |
nonsense |
probably null |
|
R9761:Zim1
|
UTSW |
7 |
6,680,771 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Zim1
|
UTSW |
7 |
6,680,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Posted On |
2013-04-17 |