Incidental Mutation 'R3706:Zim1'
| ID |
271770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zim1
|
| Ensembl Gene |
ENSMUSG00000002266 |
| Gene Name |
zinc finger, imprinted 1 |
| Synonyms |
|
| MMRRC Submission |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6677443-6699521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6680290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 458
(I458V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002336]
[ENSMUST00000122432]
[ENSMUST00000203908]
|
| AlphaFold |
Q8C393 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002336
AA Change: I458V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: I458V
| 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 damaging
Transcript: ENSMUST00000122432
AA Change: I458V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: I458V
| 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 damaging
Transcript: ENSMUST00000203908
AA Change: I458V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: I458V
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly 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 |
|
|
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 |
|
|
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'- GCGCATGGATCTGGCCTA -3'
(R):5'- CCAGACCCTCCACCTCGTG -3'
Sequencing Primer
(F):5'- TGGCACACGAAAGGTTTCTC -3'
(R):5'- ACCCTTTAAATGTGACGAGTGCG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation