Incidental Mutation 'R5882:Zim1'
| ID |
454467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zim1
|
| Ensembl Gene |
ENSMUSG00000002266 |
| Gene Name |
zinc finger, imprinted 1 |
| Synonyms |
|
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 6685737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002336]
[ENSMUST00000122432]
[ENSMUST00000203908]
|
| AlphaFold |
Q8C393 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002336
|
| SMART Domains |
Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
| 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 null
Transcript: ENSMUST00000122432
|
| SMART Domains |
Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
| 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 null
Transcript: ENSMUST00000203908
|
| SMART Domains |
Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAAGGCCATCCATTCCCGAG -3'
(R):5'- AAGACAAGGCCTCGTATGAG -3'
Sequencing Primer
(F):5'- CTCTGCATACGAGTTAAACTCTGAGC -3'
(R):5'- CAAGGCCTCGTATGAGCGGTAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation