Incidental Mutation 'R4561:Ipo4'
ID |
499997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
041786-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R4561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 55867546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002395]
[ENSMUST00000047131]
[ENSMUST00000125133]
[ENSMUST00000135221]
[ENSMUST00000141499]
[ENSMUST00000148351]
|
AlphaFold |
Q8VI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002395
|
SMART Domains |
Protein: ENSMUSP00000002395 Gene: ENSMUSG00000002324
Domain | Start | End | E-Value | Type |
Pfam:Rad21_Rec8_N
|
1 |
117 |
2.2e-26 |
PFAM |
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
low complexity region
|
329 |
347 |
N/A |
INTRINSIC |
coiled coil region
|
423 |
458 |
N/A |
INTRINSIC |
low complexity region
|
497 |
521 |
N/A |
INTRINSIC |
Pfam:Rad21_Rec8
|
536 |
590 |
9.2e-23 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000047131
|
SMART Domains |
Protein: ENSMUSP00000036555 Gene: ENSMUSG00000002319
Domain | Start | End | E-Value | Type |
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
Blast:IBN_N
|
101 |
170 |
4e-20 |
BLAST |
Blast:IBN_N
|
224 |
293 |
4e-31 |
BLAST |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
Pfam:HEAT
|
395 |
425 |
7.7e-7 |
PFAM |
Blast:ARM
|
465 |
499 |
8e-13 |
BLAST |
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
low complexity region
|
636 |
660 |
N/A |
INTRINSIC |
low complexity region
|
733 |
743 |
N/A |
INTRINSIC |
low complexity region
|
811 |
830 |
N/A |
INTRINSIC |
low complexity region
|
851 |
864 |
N/A |
INTRINSIC |
Pfam:HEAT
|
901 |
931 |
1.9e-5 |
PFAM |
Pfam:HEAT_EZ
|
914 |
969 |
2.3e-9 |
PFAM |
low complexity region
|
1043 |
1053 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127773
|
Predicted Effect |
silent
Transcript: ENSMUST00000135221
|
SMART Domains |
Protein: ENSMUSP00000123692 Gene: ENSMUSG00000002319
Domain | Start | End | E-Value | Type |
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
Blast:IBN_N
|
101 |
170 |
3e-20 |
BLAST |
Blast:IBN_N
|
224 |
293 |
2e-31 |
BLAST |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
Pfam:HEAT
|
395 |
425 |
7.4e-7 |
PFAM |
Blast:ARM
|
465 |
499 |
7e-13 |
BLAST |
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
low complexity region
|
636 |
660 |
N/A |
INTRINSIC |
low complexity region
|
733 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148351
|
SMART Domains |
Protein: ENSMUSP00000117543 Gene: ENSMUSG00000002319
Domain | Start | End | E-Value | Type |
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155193
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
Het |
|
Other mutations in Ipo4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0268:Ipo4
|
UTSW |
14 |
55,863,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0277:Ipo4
|
UTSW |
14 |
55,869,572 (GRCm39) |
missense |
probably benign |
0.03 |
R0344:Ipo4
|
UTSW |
14 |
55,863,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0467:Ipo4
|
UTSW |
14 |
55,872,983 (GRCm39) |
start codon destroyed |
probably null |
|
R1167:Ipo4
|
UTSW |
14 |
55,872,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1217:Ipo4
|
UTSW |
14 |
55,871,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R1804:Ipo4
|
UTSW |
14 |
55,866,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R2270:Ipo4
|
UTSW |
14 |
55,871,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ipo4
|
UTSW |
14 |
55,870,560 (GRCm39) |
missense |
probably benign |
0.10 |
R4801:Ipo4
|
UTSW |
14 |
55,868,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ipo4
|
UTSW |
14 |
55,868,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Ipo4
|
UTSW |
14 |
55,868,313 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5384:Ipo4
|
UTSW |
14 |
55,863,653 (GRCm39) |
missense |
probably benign |
0.28 |
R5493:Ipo4
|
UTSW |
14 |
55,868,327 (GRCm39) |
missense |
probably benign |
0.00 |
R5527:Ipo4
|
UTSW |
14 |
55,869,507 (GRCm39) |
splice site |
probably null |
|
R5631:Ipo4
|
UTSW |
14 |
55,870,838 (GRCm39) |
missense |
probably benign |
0.08 |
R5631:Ipo4
|
UTSW |
14 |
55,869,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R5788:Ipo4
|
UTSW |
14 |
55,866,277 (GRCm39) |
missense |
probably benign |
0.02 |
R5929:Ipo4
|
UTSW |
14 |
55,868,646 (GRCm39) |
missense |
probably benign |
0.03 |
R6018:Ipo4
|
UTSW |
14 |
55,863,609 (GRCm39) |
critical splice donor site |
probably null |
|
R6031:Ipo4
|
UTSW |
14 |
55,869,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Ipo4
|
UTSW |
14 |
55,869,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6707:Ipo4
|
UTSW |
14 |
55,866,361 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7344:Ipo4
|
UTSW |
14 |
55,872,988 (GRCm39) |
missense |
probably benign |
0.00 |
R7345:Ipo4
|
UTSW |
14 |
55,872,988 (GRCm39) |
missense |
probably benign |
0.00 |
R7702:Ipo4
|
UTSW |
14 |
55,869,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R9028:Ipo4
|
UTSW |
14 |
55,866,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R9197:Ipo4
|
UTSW |
14 |
55,870,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Ipo4
|
UTSW |
14 |
55,868,597 (GRCm39) |
critical splice donor site |
probably null |
|
R9244:Ipo4
|
UTSW |
14 |
55,871,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Ipo4
|
UTSW |
14 |
55,870,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGGCTAGATAAAGCAAGC -3'
(R):5'- CTGCCGCCTACTCACTAGATTG -3'
Sequencing Primer
(F):5'- CAAGCAGATCGGGGACTTTGC -3'
(R):5'- GCCTACTCACTAGATTGACAGTC -3'
|
Posted On |
2017-11-30 |