Incidental Mutation 'R5788:Ipo4'
ID |
448176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
043382-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5788 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55866277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 801
(V801M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002395]
[ENSMUST00000047131]
[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 |
probably benign
Transcript: ENSMUST00000047131
AA Change: V801M
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000036555 Gene: ENSMUSG00000002319 AA Change: V801M
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 |
noncoding transcript
Transcript: ENSMUST00000126064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135221
AA Change: V801M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000123692 Gene: ENSMUSG00000002319 AA Change: V801M
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 |
noncoding transcript
Transcript: ENSMUST00000141425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227922
|
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: ENSMUST00000228754
|
Meta Mutation Damage Score |
0.0867 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
G |
7: 131,045,328 (GRCm39) |
Y420C |
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,726,942 (GRCm39) |
R90S |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Atp8a2 |
T |
A |
14: 60,258,242 (GRCm39) |
D440V |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,177,178 (GRCm39) |
D2022G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,498 (GRCm39) |
F77S |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,220,448 (GRCm39) |
R255H |
probably benign |
Het |
Ckm |
A |
G |
7: 19,153,372 (GRCm39) |
D152G |
probably benign |
Het |
Cpsf7 |
T |
G |
19: 10,518,082 (GRCm39) |
S431A |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 16,251,980 (GRCm39) |
T959A |
probably damaging |
Het |
Dkk4 |
T |
C |
8: 23,115,347 (GRCm39) |
C66R |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,232,465 (GRCm39) |
W2058R |
probably damaging |
Het |
Evi5l |
A |
T |
8: 4,256,800 (GRCm39) |
|
probably benign |
Het |
Fancg |
A |
T |
4: 43,007,130 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,296 (GRCm39) |
H108L |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,293 (GRCm39) |
T246S |
probably benign |
Het |
Gm10428 |
T |
G |
11: 62,644,107 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
T |
A |
7: 38,821,627 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm7133 |
A |
T |
1: 97,171,201 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,717,962 (GRCm39) |
N710S |
probably benign |
Het |
Hcn2 |
T |
C |
10: 79,552,945 (GRCm39) |
V148A |
possibly damaging |
Het |
Hephl1 |
A |
G |
9: 14,995,579 (GRCm39) |
L483S |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,209,105 (GRCm39) |
E338K |
possibly damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,306,776 (GRCm39) |
D494N |
probably damaging |
Het |
Kcns2 |
A |
C |
15: 34,839,000 (GRCm39) |
Y121S |
probably benign |
Het |
Kif1c |
T |
A |
11: 70,599,654 (GRCm39) |
L462H |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,648,851 (GRCm39) |
V1615G |
possibly damaging |
Het |
Naca |
G |
A |
10: 127,876,011 (GRCm39) |
|
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Ndufs2 |
A |
G |
1: 171,066,954 (GRCm39) |
Y135H |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,965,114 (GRCm39) |
V1566A |
probably benign |
Het |
Or52d13 |
C |
T |
7: 103,110,086 (GRCm39) |
V110I |
possibly damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,551 (GRCm39) |
I271T |
probably damaging |
Het |
Or5t17 |
A |
G |
2: 86,832,645 (GRCm39) |
T111A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,779 (GRCm39) |
M1V |
probably null |
Het |
Or6c75 |
A |
T |
10: 129,336,763 (GRCm39) |
L3F |
probably benign |
Het |
Pcid2 |
C |
T |
8: 13,150,320 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
C |
12: 112,730,551 (GRCm39) |
I145L |
probably benign |
Het |
Pogk |
A |
T |
1: 166,236,580 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,152,874 (GRCm39) |
V280I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,250 (GRCm39) |
F374S |
possibly damaging |
Het |
Son |
A |
G |
16: 91,456,940 (GRCm39) |
|
probably benign |
Het |
Specc1l |
G |
T |
10: 75,112,755 (GRCm39) |
R994L |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,531 (GRCm39) |
D23E |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,810 (GRCm39) |
H21Q |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,737 (GRCm39) |
T780A |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,952,989 (GRCm39) |
D866E |
probably damaging |
Het |
Tmed4 |
A |
G |
11: 6,221,743 (GRCm39) |
W198R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,749,575 (GRCm39) |
C3825S |
probably benign |
Het |
Uchl1 |
T |
A |
5: 66,833,754 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
A |
G |
5: 117,515,483 (GRCm39) |
T363A |
possibly damaging |
Het |
Zfp266 |
A |
G |
9: 20,417,332 (GRCm39) |
Y19H |
probably damaging |
Het |
Zkscan17 |
A |
G |
11: 59,378,086 (GRCm39) |
C366R |
probably damaging |
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 |
R4561:Ipo4
|
UTSW |
14 |
55,867,546 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- TTCAGCTGAGCTTGAGGTCC -3'
(R):5'- AGAGAAGCTCCTCAGATCCCAG -3'
Sequencing Primer
(F):5'- TGAGCTTGAGGTCCCCTAC -3'
(R):5'- AGGCTCCCACCAATTGTG -3'
|
Posted On |
2016-12-15 |