Incidental Mutation 'R9547:Ipo4'
ID |
720202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R9547 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 55870789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000132338]
[ENSMUST00000135221]
[ENSMUST00000148351]
[ENSMUST00000149726]
|
AlphaFold |
Q8VI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002391
|
SMART Domains |
Protein: ENSMUSP00000002391 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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 null
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: ENSMUST00000120041
|
SMART Domains |
Protein: ENSMUSP00000112893 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121791
|
SMART Domains |
Protein: ENSMUSP00000112764 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121937
|
SMART Domains |
Protein: ENSMUSP00000113143 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
547 |
9e-169 |
PFAM |
transmembrane domain
|
550 |
572 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122358
|
SMART Domains |
Protein: ENSMUSP00000113782 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
58 |
563 |
2.3e-164 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125133
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132338
|
SMART Domains |
Protein: ENSMUSP00000118427 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
Predicted Effect |
probably benign
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: ENSMUST00000148351
|
SMART Domains |
Protein: ENSMUSP00000117543 Gene: ENSMUSG00000002319
Domain | Start | End | E-Value | Type |
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149726
|
SMART Domains |
Protein: ENSMUSP00000115403 Gene: ENSMUSG00000002320
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
G |
T |
3: 59,772,656 (GRCm39) |
M53I |
probably benign |
Het |
Abtb1 |
C |
T |
6: 88,815,917 (GRCm39) |
V185M |
probably damaging |
Het |
Acod1 |
A |
T |
14: 103,292,294 (GRCm39) |
S273C |
probably benign |
Het |
Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
Anks1 |
T |
C |
17: 28,270,748 (GRCm39) |
L845P |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
Cand2 |
G |
A |
6: 115,759,757 (GRCm39) |
A143T |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,380,841 (GRCm39) |
H116L |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,683,186 (GRCm39) |
R542H |
unknown |
Het |
Crnkl1 |
T |
C |
2: 145,772,550 (GRCm39) |
M176V |
possibly damaging |
Het |
Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,624,805 (GRCm39) |
E3744G |
probably damaging |
Het |
Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,911,142 (GRCm39) |
I1620N |
possibly damaging |
Het |
Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
Fbxw10 |
G |
T |
11: 62,767,647 (GRCm39) |
V828F |
possibly damaging |
Het |
Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
Gmip |
T |
C |
8: 70,273,381 (GRCm39) |
S891P |
possibly damaging |
Het |
Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
Intu |
G |
A |
3: 40,608,536 (GRCm39) |
V183I |
probably benign |
Het |
Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
Klrc2 |
C |
G |
6: 129,633,812 (GRCm39) |
A188P |
probably benign |
Het |
Lipc |
T |
C |
9: 70,728,146 (GRCm39) |
D104G |
unknown |
Het |
Lrrc63 |
A |
T |
14: 75,344,828 (GRCm39) |
L420M |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,161,069 (GRCm39) |
|
probably null |
Het |
Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
Mtmr9 |
A |
G |
14: 63,779,855 (GRCm39) |
I78T |
possibly damaging |
Het |
Npepl1 |
A |
G |
2: 173,962,030 (GRCm39) |
D304G |
probably null |
Het |
Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
Or2n1d |
G |
T |
17: 38,646,341 (GRCm39) |
V98F |
possibly damaging |
Het |
Or5k3 |
T |
C |
16: 58,970,107 (GRCm39) |
I298T |
possibly damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,927 (GRCm39) |
T38I |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,709,506 (GRCm39) |
I603K |
possibly damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
Phf10 |
A |
G |
17: 15,166,459 (GRCm39) |
|
probably null |
Het |
Phgdh |
A |
G |
3: 98,241,950 (GRCm39) |
S55P |
probably damaging |
Het |
Poll |
G |
T |
19: 45,546,359 (GRCm39) |
P227H |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,214,087 (GRCm39) |
I192V |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 91,977,873 (GRCm39) |
D1038G |
probably benign |
Het |
Snx18 |
A |
G |
13: 113,753,754 (GRCm39) |
M393T |
possibly damaging |
Het |
Srsf11 |
A |
G |
3: 157,717,735 (GRCm39) |
C448R |
unknown |
Het |
Sv2c |
A |
G |
13: 96,185,008 (GRCm39) |
I223T |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
Tex21 |
T |
C |
12: 76,253,591 (GRCm39) |
T441A |
probably damaging |
Het |
Thnsl2 |
T |
A |
6: 71,116,810 (GRCm39) |
D114V |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,748,467 (GRCm39) |
V1401A |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,049,588 (GRCm39) |
S769P |
probably benign |
Het |
Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
Ublcp1 |
T |
C |
11: 44,347,251 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn1r216 |
A |
T |
13: 23,283,455 (GRCm39) |
D46V |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
Zfp266 |
A |
G |
9: 20,411,746 (GRCm39) |
S144P |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCTTCCCAGAACAGGCTC -3'
(R):5'- GAGTTGCCCATCATCAACCC -3'
Sequencing Primer
(F):5'- TTCCCAGAACAGGCTCATGGG -3'
(R):5'- CCTCACGTTTTGCCTGGAGG -3'
|
Posted On |
2022-07-18 |