Incidental Mutation 'R2356:Ipo9'
ID |
246909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo9
|
Ensembl Gene |
ENSMUSG00000041879 |
Gene Name |
importin 9 |
Synonyms |
0710008K06Rik, Imp9 |
MMRRC Submission |
040338-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2356 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
135310050-135358237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135334555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 285
(S285T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041023]
[ENSMUST00000161032]
[ENSMUST00000161189]
[ENSMUST00000161838]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041023
AA Change: S285T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000036093 Gene: ENSMUSG00000041879 AA Change: S285T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
IBN_N
|
43 |
119 |
3.83e-7 |
SMART |
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
low complexity region
|
978 |
990 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159017
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159173
|
SMART Domains |
Protein: ENSMUSP00000123869 Gene: ENSMUSG00000041879
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
7 |
N/A |
INTRINSIC |
SCOP:d1i6la_
|
18 |
49 |
3e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161032
AA Change: S285T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000124779 Gene: ENSMUSG00000041879 AA Change: S285T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
IBN_N
|
43 |
119 |
3.83e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161135
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161189
|
SMART Domains |
Protein: ENSMUSP00000124492 Gene: ENSMUSG00000041879
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
SCOP:d1i6la_
|
21 |
52 |
4e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161704
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161838
|
SMART Domains |
Protein: ENSMUSP00000125646 Gene: ENSMUSG00000041879
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
SCOP:d1i6la_
|
21 |
52 |
4e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
G |
T |
16: 20,379,249 (GRCm39) |
R705L |
probably benign |
Het |
Adcy6 |
A |
T |
15: 98,494,897 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
T |
8: 23,575,688 (GRCm39) |
T145S |
probably damaging |
Het |
Aph1a |
T |
C |
3: 95,801,544 (GRCm39) |
F21S |
probably benign |
Het |
Apoa5 |
T |
A |
9: 46,181,341 (GRCm39) |
V139E |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,900,851 (GRCm39) |
K595R |
probably damaging |
Het |
Arhgap5 |
C |
T |
12: 52,565,930 (GRCm39) |
P967L |
probably benign |
Het |
Atp13a5 |
A |
T |
16: 29,099,887 (GRCm39) |
I683N |
probably damaging |
Het |
Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,955,908 (GRCm39) |
V199A |
probably damaging |
Het |
Ces2h |
G |
A |
8: 105,742,570 (GRCm39) |
C94Y |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,268,559 (GRCm39) |
G155D |
probably damaging |
Het |
Cxcr4 |
A |
G |
1: 128,517,251 (GRCm39) |
Y135H |
probably damaging |
Het |
Dapp1 |
A |
G |
3: 137,643,510 (GRCm39) |
V184A |
possibly damaging |
Het |
Dhrs7 |
A |
C |
12: 72,699,155 (GRCm39) |
S276A |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,220,496 (GRCm39) |
|
probably null |
Het |
Dnaaf1 |
T |
A |
8: 120,315,026 (GRCm39) |
F278Y |
probably damaging |
Het |
Dnaaf2 |
A |
G |
12: 69,244,992 (GRCm39) |
F23S |
probably benign |
Het |
En2 |
G |
T |
5: 28,371,330 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
T |
A |
1: 68,117,755 (GRCm39) |
M887L |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,253,738 (GRCm39) |
M482V |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,441,164 (GRCm39) |
I571V |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,394,897 (GRCm39) |
G650D |
probably benign |
Het |
Gm8225 |
T |
C |
17: 26,762,378 (GRCm39) |
S190P |
probably damaging |
Het |
Gpx5 |
G |
C |
13: 21,475,538 (GRCm39) |
H63D |
possibly damaging |
Het |
Itga8 |
T |
C |
2: 12,204,952 (GRCm39) |
H495R |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
Krtap8-1 |
A |
T |
16: 89,284,789 (GRCm39) |
Y3N |
possibly damaging |
Het |
Krtap8-1 |
G |
T |
16: 89,284,790 (GRCm39) |
Y2* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,117,109 (GRCm39) |
L2468Q |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,124,381 (GRCm39) |
L280S |
probably damaging |
Het |
Matk |
G |
A |
10: 81,097,377 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,001,026 (GRCm39) |
T434A |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,795,069 (GRCm39) |
L1283Q |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,932,563 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,970,863 (GRCm39) |
I282N |
probably damaging |
Het |
Ncln |
A |
G |
10: 81,328,756 (GRCm39) |
V174A |
probably benign |
Het |
Nipa2 |
G |
A |
7: 55,582,714 (GRCm39) |
H344Y |
probably benign |
Het |
Nlrp4g |
A |
G |
9: 124,349,306 (GRCm38) |
|
noncoding transcript |
Het |
Or56b1 |
G |
T |
7: 104,285,834 (GRCm39) |
E318* |
probably null |
Het |
Or6c38 |
T |
C |
10: 128,929,761 (GRCm39) |
I27M |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,383,743 (GRCm39) |
S521P |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,396,415 (GRCm39) |
T1979M |
probably benign |
Het |
Plekhn1 |
T |
G |
4: 156,307,158 (GRCm39) |
D464A |
probably damaging |
Het |
Ppp4r1 |
T |
A |
17: 66,140,045 (GRCm39) |
Y648N |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
A |
16: 15,502,068 (GRCm39) |
H828Q |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,598,984 (GRCm39) |
Y69* |
probably null |
Het |
Prx |
C |
T |
7: 27,207,284 (GRCm39) |
|
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,319,530 (GRCm39) |
S7T |
possibly damaging |
Het |
Psmd14 |
A |
T |
2: 61,630,351 (GRCm39) |
H287L |
probably benign |
Het |
Rcor1 |
T |
C |
12: 111,076,226 (GRCm39) |
Y297H |
probably damaging |
Het |
Rnf40 |
T |
G |
7: 127,190,748 (GRCm39) |
V272G |
probably damaging |
Het |
Serpina3f |
G |
T |
12: 104,183,626 (GRCm39) |
E163* |
probably null |
Het |
Setd4 |
G |
A |
16: 93,387,871 (GRCm39) |
T205I |
probably damaging |
Het |
Shroom1 |
A |
T |
11: 53,357,274 (GRCm39) |
T646S |
probably benign |
Het |
Smg8 |
G |
C |
11: 86,976,554 (GRCm39) |
S342R |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,119,789 (GRCm39) |
V4407A |
possibly damaging |
Het |
Trhde |
T |
C |
10: 114,237,421 (GRCm39) |
Y986C |
probably damaging |
Het |
Tulp2 |
A |
T |
7: 45,168,052 (GRCm39) |
T155S |
possibly damaging |
Het |
Vmn1r212 |
A |
T |
13: 23,068,120 (GRCm39) |
L71* |
probably null |
Het |
Wnk2 |
A |
T |
13: 49,192,644 (GRCm39) |
C2032* |
probably null |
Het |
Zfp429 |
A |
G |
13: 67,538,746 (GRCm39) |
Y233H |
probably benign |
Het |
Zfp809 |
C |
A |
9: 22,154,336 (GRCm39) |
T351K |
probably benign |
Het |
|
Other mutations in Ipo9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00896:Ipo9
|
APN |
1 |
135,327,797 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01611:Ipo9
|
APN |
1 |
135,314,431 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01941:Ipo9
|
APN |
1 |
135,335,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01944:Ipo9
|
APN |
1 |
135,333,624 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01959:Ipo9
|
APN |
1 |
135,348,093 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02649:Ipo9
|
APN |
1 |
135,313,672 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02697:Ipo9
|
APN |
1 |
135,318,314 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03286:Ipo9
|
APN |
1 |
135,334,816 (GRCm39) |
intron |
probably benign |
|
FR4304:Ipo9
|
UTSW |
1 |
135,314,017 (GRCm39) |
nonsense |
probably null |
|
FR4304:Ipo9
|
UTSW |
1 |
135,314,013 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Ipo9
|
UTSW |
1 |
135,314,009 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Ipo9
|
UTSW |
1 |
135,314,007 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Ipo9
|
UTSW |
1 |
135,314,013 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Ipo9
|
UTSW |
1 |
135,314,019 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Ipo9
|
UTSW |
1 |
135,314,004 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ipo9
|
UTSW |
1 |
135,314,019 (GRCm39) |
small insertion |
probably benign |
|
R0111:Ipo9
|
UTSW |
1 |
135,333,662 (GRCm39) |
missense |
probably damaging |
0.97 |
R0238:Ipo9
|
UTSW |
1 |
135,332,074 (GRCm39) |
splice site |
probably benign |
|
R0239:Ipo9
|
UTSW |
1 |
135,332,074 (GRCm39) |
splice site |
probably benign |
|
R0279:Ipo9
|
UTSW |
1 |
135,348,101 (GRCm39) |
intron |
probably benign |
|
R0704:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small deletion |
probably benign |
|
R1070:Ipo9
|
UTSW |
1 |
135,334,281 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1282:Ipo9
|
UTSW |
1 |
135,330,030 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1467:Ipo9
|
UTSW |
1 |
135,334,281 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1467:Ipo9
|
UTSW |
1 |
135,334,281 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1728:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1728:Ipo9
|
UTSW |
1 |
135,314,009 (GRCm39) |
small insertion |
probably benign |
|
R1728:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1729:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1729:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1730:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1730:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1739:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1739:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1762:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1762:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1783:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1783:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1784:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1784:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1785:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R1785:Ipo9
|
UTSW |
1 |
135,314,019 (GRCm39) |
small insertion |
probably benign |
|
R1785:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R1899:Ipo9
|
UTSW |
1 |
135,327,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R2049:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2049:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2130:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2130:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2131:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2131:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2133:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2133:Ipo9
|
UTSW |
1 |
135,314,013 (GRCm39) |
small insertion |
probably benign |
|
R2133:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2136:Ipo9
|
UTSW |
1 |
135,322,023 (GRCm39) |
missense |
probably damaging |
0.98 |
R2141:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2141:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2142:Ipo9
|
UTSW |
1 |
135,314,020 (GRCm39) |
small insertion |
probably benign |
|
R2142:Ipo9
|
UTSW |
1 |
135,329,988 (GRCm39) |
missense |
probably benign |
|
R2142:Ipo9
|
UTSW |
1 |
135,314,006 (GRCm39) |
small insertion |
probably benign |
|
R2142:Ipo9
|
UTSW |
1 |
135,314,013 (GRCm39) |
small insertion |
probably benign |
|
R2923:Ipo9
|
UTSW |
1 |
135,327,867 (GRCm39) |
missense |
probably benign |
0.25 |
R3161:Ipo9
|
UTSW |
1 |
135,337,214 (GRCm39) |
missense |
probably benign |
0.43 |
R3162:Ipo9
|
UTSW |
1 |
135,337,214 (GRCm39) |
missense |
probably benign |
0.43 |
R3162:Ipo9
|
UTSW |
1 |
135,337,214 (GRCm39) |
missense |
probably benign |
0.43 |
R4086:Ipo9
|
UTSW |
1 |
135,316,428 (GRCm39) |
unclassified |
probably benign |
|
R4679:Ipo9
|
UTSW |
1 |
135,321,907 (GRCm39) |
missense |
probably benign |
|
R4816:Ipo9
|
UTSW |
1 |
135,334,288 (GRCm39) |
missense |
probably benign |
0.21 |
R4956:Ipo9
|
UTSW |
1 |
135,331,960 (GRCm39) |
critical splice donor site |
probably null |
|
R5052:Ipo9
|
UTSW |
1 |
135,316,349 (GRCm39) |
splice site |
probably null |
|
R5055:Ipo9
|
UTSW |
1 |
135,330,097 (GRCm39) |
nonsense |
probably null |
|
R5230:Ipo9
|
UTSW |
1 |
135,347,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R5240:Ipo9
|
UTSW |
1 |
135,317,344 (GRCm39) |
unclassified |
probably benign |
|
R5257:Ipo9
|
UTSW |
1 |
135,313,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5340:Ipo9
|
UTSW |
1 |
135,313,170 (GRCm39) |
missense |
probably benign |
0.00 |
R5560:Ipo9
|
UTSW |
1 |
135,329,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R5602:Ipo9
|
UTSW |
1 |
135,329,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R5604:Ipo9
|
UTSW |
1 |
135,329,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R5654:Ipo9
|
UTSW |
1 |
135,313,210 (GRCm39) |
nonsense |
probably null |
|
R6018:Ipo9
|
UTSW |
1 |
135,318,274 (GRCm39) |
critical splice donor site |
probably null |
|
R6128:Ipo9
|
UTSW |
1 |
135,318,311 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6841:Ipo9
|
UTSW |
1 |
135,314,046 (GRCm39) |
missense |
probably benign |
|
R7230:Ipo9
|
UTSW |
1 |
135,334,496 (GRCm39) |
critical splice donor site |
probably benign |
|
R7255:Ipo9
|
UTSW |
1 |
135,313,726 (GRCm39) |
missense |
probably benign |
0.01 |
R7383:Ipo9
|
UTSW |
1 |
135,316,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Ipo9
|
UTSW |
1 |
135,322,062 (GRCm39) |
missense |
probably benign |
0.00 |
R7889:Ipo9
|
UTSW |
1 |
135,334,591 (GRCm39) |
missense |
probably benign |
0.22 |
R8125:Ipo9
|
UTSW |
1 |
135,331,078 (GRCm39) |
missense |
probably benign |
0.00 |
R8823:Ipo9
|
UTSW |
1 |
135,347,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R8889:Ipo9
|
UTSW |
1 |
135,314,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8892:Ipo9
|
UTSW |
1 |
135,314,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8906:Ipo9
|
UTSW |
1 |
135,321,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R8926:Ipo9
|
UTSW |
1 |
135,313,952 (GRCm39) |
splice site |
probably benign |
|
R9084:Ipo9
|
UTSW |
1 |
135,334,563 (GRCm39) |
missense |
probably benign |
0.01 |
R9215:Ipo9
|
UTSW |
1 |
135,347,033 (GRCm39) |
missense |
probably benign |
0.05 |
R9756:Ipo9
|
UTSW |
1 |
135,314,057 (GRCm39) |
missense |
probably benign |
0.00 |
Y5405:Ipo9
|
UTSW |
1 |
135,314,022 (GRCm39) |
small insertion |
probably benign |
|
Y5405:Ipo9
|
UTSW |
1 |
135,314,013 (GRCm39) |
small insertion |
probably benign |
|
Y5405:Ipo9
|
UTSW |
1 |
135,314,007 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGTGCTATATGCCCCAAC -3'
(R):5'- TTCACAGAGGCCTTTGTTCAGG -3'
Sequencing Primer
(F):5'- GTGCTATATGCCCCAACACCAAG -3'
(R):5'- TGTTCAGGCACTCCAGATG -3'
|
Posted On |
2014-10-30 |