Incidental Mutation 'IGL02116:Zim1'
| ID |
280375 |
| 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: 0.056)
|
| Stock # |
IGL02116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6681253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002336]
[ENSMUST00000122432]
[ENSMUST00000203908]
|
| AlphaFold |
Q8C393 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002336
AA Change: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: T137A
| 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 |
probably benign
Transcript: ENSMUST00000122432
AA Change: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: T137A
| 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 |
probably benign
Transcript: ENSMUST00000203908
AA Change: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: T137A
| 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 |
|
| 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 |
|---|
| Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
| Adamts19 |
T |
C |
18: 58,970,571 (GRCm39) |
S52P |
probably benign |
Het |
| Ahrr |
G |
T |
13: 74,368,692 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Ap4s1 |
T |
C |
12: 51,769,833 (GRCm39) |
|
probably null |
Het |
| Atrn |
T |
C |
2: 130,800,009 (GRCm39) |
V462A |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,045,130 (GRCm39) |
S800G |
possibly damaging |
Het |
| Dach1 |
T |
G |
14: 98,138,859 (GRCm39) |
N528T |
probably damaging |
Het |
| Foxl2 |
T |
C |
9: 98,838,111 (GRCm39) |
M133T |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,818,033 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,042,772 (GRCm39) |
I43T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,978 (GRCm39) |
Y2172C |
probably damaging |
Het |
| Hey1 |
G |
T |
3: 8,731,640 (GRCm39) |
|
probably null |
Het |
| Hnrnph3 |
A |
T |
10: 62,851,855 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,568 (GRCm39) |
Y81* |
probably null |
Het |
| Inhba |
A |
G |
13: 16,201,557 (GRCm39) |
H373R |
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,356,697 (GRCm39) |
I359K |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,839,664 (GRCm39) |
N339D |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,942,758 (GRCm39) |
P51S |
probably benign |
Het |
| Nadk |
C |
A |
4: 155,663,763 (GRCm39) |
|
probably benign |
Het |
| Or5an11 |
A |
G |
19: 12,246,374 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,632 (GRCm39) |
T244S |
probably benign |
Het |
| Pappa2 |
T |
G |
1: 158,672,695 (GRCm39) |
I1083L |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,334,421 (GRCm39) |
D948G |
probably damaging |
Het |
| Rbm15 |
A |
T |
3: 107,237,596 (GRCm39) |
L934Q |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,862,336 (GRCm39) |
|
probably null |
Het |
| Riok1 |
A |
G |
13: 38,243,932 (GRCm39) |
E486G |
possibly damaging |
Het |
| Rptn |
A |
C |
3: 93,302,404 (GRCm39) |
E40A |
possibly damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,688 (GRCm39) |
T255A |
probably benign |
Het |
| Slc5a8 |
A |
T |
10: 88,755,362 (GRCm39) |
M490L |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,209,447 (GRCm39) |
C62* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,782 (GRCm39) |
T2215A |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,528 (GRCm39) |
R234W |
probably damaging |
Het |
| Tmco3 |
A |
T |
8: 13,342,706 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,972 (GRCm39) |
D250G |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,548 (GRCm39) |
I237F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,466 (GRCm39) |
V306A |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,890 (GRCm39) |
W8R |
probably damaging |
Het |
|
| Other mutations in Zim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Zim1
|
APN |
7 |
6,685,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01921:Zim1
|
APN |
7 |
6,685,184 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation