Incidental Mutation 'R9202:Ipo4'
| ID |
698287 |
| 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 # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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 T
at 55868597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000135221]
[ENSMUST00000141499]
[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 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: 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: 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
| Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
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 |
|
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 |
|
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'- TAAGCAACTCAGGTCTCTAAGC -3'
(R):5'- AAACTCTCATCTCTTCGGATGCTG -3'
Sequencing Primer
(F):5'- AGCAACTCAGGTCTCTAAGCTTTTG -3'
(R):5'- ATGCTGCTGCTGCCATTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation