Incidental Mutation 'R5843:Zim1'
ID |
450540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zim1
|
Ensembl Gene |
ENSMUSG00000002266 |
Gene Name |
zinc finger, imprinted 1 |
Synonyms |
|
MMRRC Submission |
043224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5843 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6680697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 322
(V322A)
|
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: V322A
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002336 Gene: ENSMUSG00000002266 AA Change: V322A
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: V322A
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113585 Gene: ENSMUSG00000002266 AA Change: V322A
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: V322A
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145453 Gene: ENSMUSG00000002266 AA Change: V322A
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTATGGATCCTCTTGTGCTCC -3'
(R):5'- CAGACCATGAGGAGCAGTTC -3'
Sequencing Primer
(F):5'- GGCCGAAGCACTTGTTACACTC -3'
(R):5'- AAGCCTGCCCGACAAGG -3'
|
Posted On |
2016-12-20 |