Incidental Mutation 'R1217:Ipo4'
ID |
99770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo4
|
Ensembl Gene |
ENSMUSG00000002319 |
Gene Name |
importin 4 |
Synonyms |
8430408O15Rik |
MMRRC Submission |
039286-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R1217 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55862857-55873321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55871816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 113
(K113R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000135221]
[ENSMUST00000125133]
[ENSMUST00000148351]
[ENSMUST00000149726]
[ENSMUST00000132338]
|
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
AA Change: K110R
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036555 Gene: ENSMUSG00000002319 AA Change: K110R
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: ENSMUST00000135221
AA Change: K110R
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123692 Gene: ENSMUSG00000002319 AA Change: K110R
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: ENSMUST00000127773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125133
AA Change: K113R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
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
|
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: 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 |
|
Meta Mutation Damage Score |
0.0745 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
Aldh1a2 |
A |
G |
9: 71,188,964 (GRCm39) |
N293D |
possibly damaging |
Het |
Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
Cmklr1 |
A |
T |
5: 113,752,107 (GRCm39) |
L298Q |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,200,097 (GRCm39) |
G699D |
possibly damaging |
Het |
Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
Odad1 |
C |
T |
7: 45,592,182 (GRCm39) |
|
probably benign |
Het |
Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
C |
T |
7: 85,208,269 (GRCm39) |
C736Y |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
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 |
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 |
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'- TTCTGAAAGCGAGGGCACGAAACC -3'
(R):5'- TGCTGACCGAGCCAGATCACAATG -3'
Sequencing Primer
(F):5'- TGAGCGTCTCATTCAGAAGC -3'
(R):5'- ATGGGGTCTGCCTTAGGAAAG -3'
|
Posted On |
2014-01-15 |