Incidental Mutation 'R2315:Zim1'
| ID |
245454 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6680067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
| 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: D532G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: D532G
| 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: D532G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: D532G
| 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: D532G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: D532G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGAACTGTTCATGTGTGTC -3'
(R):5'- CGCTTGCAAAGTAGCCCTTC -3'
Sequencing Primer
(F):5'- TTTGTCCCAAAGACCCAAATGTGAG -3'
(R):5'- GCTTGCAAAGTAGCCCTTCTCAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation