Incidental Mutation 'R0467:Ipo4'
ID |
186145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
038667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0467 (G1)
|
Quality Score |
22 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 55872983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000148351]
[ENSMUST00000135221]
[ENSMUST00000132338]
[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 benign
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 null
Transcript: ENSMUST00000125133
AA Change: M1K
|
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: 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: ENSMUST00000156420
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146588
|
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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
possibly 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 |
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 |
R9547:Ipo4
|
UTSW |
14 |
55,870,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGCCAAATGAGAATCACAGG -3'
(R):5'- AGACGCAGAGTAACGCCCTTTC -3'
Sequencing Primer
(F):5'- TTTCAGAATTTCGGCAAGGAG -3'
(R):5'- TTTCCGCCGGAAGTTGC -3'
|
Posted On |
2014-05-08 |