Incidental Mutation 'R5631:Ipo4'
ID |
439874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
043282-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5631 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55869526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000135221]
[ENSMUST00000141499]
[ENSMUST00000149726]
[ENSMUST00000148351]
|
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 damaging
Transcript: ENSMUST00000047131
AA Change: V378A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000036555 Gene: ENSMUSG00000002319 AA Change: V378A
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 damaging
Transcript: ENSMUST00000135221
AA Change: V378A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123692 Gene: ENSMUSG00000002319 AA Change: V378A
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: ENSMUST00000155464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141499
|
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 |
noncoding transcript
Transcript: ENSMUST00000228754
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
A |
11: 72,067,590 (GRCm39) |
V567L |
possibly damaging |
Het |
Abraxas1 |
T |
G |
5: 100,965,840 (GRCm39) |
Y68S |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,195,160 (GRCm39) |
Q543* |
probably null |
Het |
Anapc1 |
T |
C |
2: 128,499,137 (GRCm39) |
Y845C |
possibly damaging |
Het |
Ap4m1 |
A |
G |
5: 138,173,051 (GRCm39) |
*98W |
probably null |
Het |
Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
Cramp1 |
T |
A |
17: 25,204,577 (GRCm39) |
T275S |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,832,898 (GRCm39) |
S1038G |
probably benign |
Het |
Fancm |
T |
C |
12: 65,160,617 (GRCm39) |
V1397A |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,629,355 (GRCm39) |
T2203A |
probably damaging |
Het |
Gm57858 |
G |
C |
3: 36,101,026 (GRCm39) |
Q49E |
probably damaging |
Het |
Heatr5a |
T |
A |
12: 52,002,310 (GRCm39) |
I209F |
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,808 (GRCm39) |
C126S |
probably damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,753 (GRCm39) |
T377S |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,731,985 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
T |
C |
2: 101,900,301 (GRCm39) |
D67G |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,646,456 (GRCm39) |
M535L |
probably benign |
Het |
Mfhas1 |
G |
A |
8: 36,055,573 (GRCm39) |
R16Q |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,333,383 (GRCm39) |
K1355* |
probably null |
Het |
Mrgprf |
A |
G |
7: 144,862,283 (GRCm39) |
I282V |
probably benign |
Het |
Mvb12b |
G |
T |
2: 33,717,715 (GRCm39) |
P142Q |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
Ncoa5 |
T |
C |
2: 164,855,041 (GRCm39) |
D27G |
possibly damaging |
Het |
Nrap |
T |
G |
19: 56,342,553 (GRCm39) |
E780A |
probably benign |
Het |
Oplah |
T |
C |
15: 76,189,441 (GRCm39) |
I228V |
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,475,952 (GRCm39) |
S172T |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,704,638 (GRCm39) |
M433V |
probably benign |
Het |
Polr3h |
T |
A |
15: 81,810,113 (GRCm39) |
|
probably benign |
Het |
Ppfibp1 |
T |
C |
6: 146,898,358 (GRCm39) |
Y105H |
probably damaging |
Het |
Rplp2 |
A |
C |
7: 141,031,172 (GRCm39) |
|
probably benign |
Het |
Rps6ka4 |
T |
C |
19: 6,808,345 (GRCm39) |
|
probably benign |
Het |
Rspry1 |
A |
T |
8: 95,355,706 (GRCm39) |
M1L |
possibly damaging |
Het |
Runx1 |
C |
A |
16: 92,492,451 (GRCm39) |
R64L |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc9a5 |
C |
T |
8: 106,076,141 (GRCm39) |
H45Y |
possibly damaging |
Het |
Smc4 |
T |
C |
3: 68,937,645 (GRCm39) |
I890T |
probably benign |
Het |
Smtnl1 |
T |
C |
2: 84,649,098 (GRCm39) |
E52G |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,294,139 (GRCm39) |
I319N |
probably damaging |
Het |
Stt3b |
G |
A |
9: 115,083,913 (GRCm39) |
T421I |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,319,825 (GRCm39) |
L47P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,409,882 (GRCm38) |
Y850H |
probably damaging |
Het |
Trim34a |
A |
T |
7: 103,897,946 (GRCm39) |
E158V |
probably damaging |
Het |
Trp53i13 |
C |
A |
11: 77,400,419 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
T |
C |
15: 9,361,971 (GRCm39) |
V249A |
probably damaging |
Het |
Vmn1r128 |
G |
A |
7: 21,083,300 (GRCm39) |
M1I |
probably null |
Het |
Yars1 |
T |
G |
4: 129,103,542 (GRCm39) |
L297R |
probably damaging |
Het |
Yju2b |
G |
T |
8: 84,990,510 (GRCm39) |
Q41K |
probably damaging |
Het |
Zkscan3 |
A |
G |
13: 21,578,703 (GRCm39) |
L176P |
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 |
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'- GGTACAGCAGTCTGAATGGG -3'
(R):5'- TCCCTTAAAGAAAGCCAAGGG -3'
Sequencing Primer
(F):5'- TCTATGAATTCCAGGCCAGTCAAGG -3'
(R):5'- CCCTTAAAGAAAGCCAAGGGTATTTG -3'
|
Posted On |
2016-11-08 |