Incidental Mutation 'R5654:Ipo9'
ID |
442147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo9
|
Ensembl Gene |
ENSMUSG00000041879 |
Gene Name |
importin 9 |
Synonyms |
0710008K06Rik, Imp9 |
MMRRC Submission |
043300-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5654 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
135310050-135358237 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 135313210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1006
(Y1006*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041023]
[ENSMUST00000161032]
[ENSMUST00000161189]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000041023
AA Change: Y1006*
|
SMART Domains |
Protein: ENSMUSP00000036093 Gene: ENSMUSG00000041879 AA Change: Y1006*
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: ENSMUST00000159089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159487
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161032
|
SMART Domains |
Protein: ENSMUSP00000124779 Gene: ENSMUSG00000041879
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
IBN_N
|
43 |
119 |
3.83e-7 |
SMART |
|
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: ENSMUST00000161750
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161934
AA Change: S150T
|
SMART Domains |
Protein: ENSMUSP00000124210 Gene: ENSMUSG00000041879 AA Change: S150T
Domain | Start | End | E-Value | Type |
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162858
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
96% (69/72) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
T |
C |
1: 75,151,479 (GRCm39) |
|
probably null |
Het |
Abcc9 |
G |
A |
6: 142,571,371 (GRCm39) |
|
probably benign |
Het |
Acss2 |
T |
C |
2: 155,416,575 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
G |
A |
2: 126,217,725 (GRCm39) |
T597I |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,961,015 (GRCm39) |
N796I |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,690,905 (GRCm39) |
|
probably null |
Het |
Cdhr2 |
A |
G |
13: 54,884,349 (GRCm39) |
N1295D |
probably benign |
Het |
Cog3 |
G |
A |
14: 75,962,239 (GRCm39) |
T534M |
probably benign |
Het |
Cpne1 |
A |
G |
2: 155,919,561 (GRCm39) |
S303P |
probably damaging |
Het |
Cs |
G |
A |
10: 128,187,086 (GRCm39) |
G74S |
possibly damaging |
Het |
Cyb5r4 |
G |
T |
9: 86,929,533 (GRCm39) |
S229I |
probably damaging |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Ect2l |
C |
T |
10: 18,018,810 (GRCm39) |
V529M |
probably damaging |
Het |
Edaradd |
C |
A |
13: 12,493,161 (GRCm39) |
R177L |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,006,148 (GRCm39) |
D333G |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fbxl18 |
A |
G |
5: 142,871,558 (GRCm39) |
I559T |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,851 (GRCm39) |
V225G |
probably benign |
Het |
Ido1 |
C |
T |
8: 25,077,819 (GRCm39) |
V83M |
probably damaging |
Het |
Iffo1 |
T |
G |
6: 125,130,030 (GRCm39) |
C419G |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,100,439 (GRCm39) |
Y510F |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,065,785 (GRCm39) |
S1737T |
probably benign |
Het |
Klhl32 |
C |
T |
4: 24,800,805 (GRCm39) |
|
probably null |
Het |
Klk1b11 |
T |
A |
7: 43,427,810 (GRCm39) |
C173S |
probably damaging |
Het |
Klk1b24 |
A |
T |
7: 43,840,889 (GRCm39) |
M106L |
probably benign |
Het |
Lamp1 |
G |
A |
8: 13,221,388 (GRCm39) |
|
probably null |
Het |
Mapk4 |
A |
T |
18: 74,103,365 (GRCm39) |
V48E |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,486,082 (GRCm39) |
D395E |
probably damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,465 (GRCm39) |
F157S |
probably damaging |
Het |
Mettl21e |
A |
T |
1: 44,250,255 (GRCm39) |
F50L |
probably damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,077,153 (GRCm39) |
I35T |
probably benign |
Het |
Natd1 |
T |
C |
11: 60,796,892 (GRCm39) |
Y91C |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,633,476 (GRCm39) |
Y2294N |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,841 (GRCm39) |
T520A |
probably benign |
Het |
Nrf1 |
A |
G |
6: 30,117,061 (GRCm39) |
T324A |
probably benign |
Het |
Or10a2 |
G |
A |
7: 106,673,394 (GRCm39) |
A120T |
probably damaging |
Het |
Or4k51 |
T |
A |
2: 111,585,326 (GRCm39) |
I244N |
probably damaging |
Het |
Or52a5 |
A |
C |
7: 103,427,182 (GRCm39) |
D123E |
probably damaging |
Het |
Or5m11b |
A |
G |
2: 85,806,500 (GRCm39) |
I304M |
probably benign |
Het |
Pam |
C |
T |
1: 97,792,123 (GRCm39) |
V433I |
probably benign |
Het |
Pck1 |
T |
A |
2: 173,000,353 (GRCm39) |
Y595N |
probably damaging |
Het |
Per2 |
C |
T |
1: 91,373,223 (GRCm39) |
|
probably null |
Het |
Piezo2 |
G |
C |
18: 63,278,162 (GRCm39) |
F247L |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,523,337 (GRCm39) |
Y148C |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,475,876 (GRCm39) |
T320A |
probably benign |
Het |
Ppip5k1 |
G |
A |
2: 121,147,157 (GRCm39) |
R1155C |
probably benign |
Het |
Ppp1r15b |
C |
T |
1: 133,059,382 (GRCm39) |
|
probably benign |
Het |
Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
Ptprz1 |
G |
T |
6: 22,986,133 (GRCm39) |
C311F |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,235,038 (GRCm39) |
V44E |
probably damaging |
Het |
Rpl5 |
T |
A |
5: 108,051,514 (GRCm39) |
|
probably benign |
Het |
Rttn |
G |
A |
18: 89,066,556 (GRCm39) |
V1201I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,853 (GRCm39) |
N283S |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,405,529 (GRCm39) |
N418K |
probably benign |
Het |
Shmt2 |
T |
C |
10: 127,353,668 (GRCm39) |
D499G |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,293 (GRCm39) |
L403S |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,303,955 (GRCm39) |
T257A |
probably benign |
Het |
Snrnp35 |
T |
C |
5: 124,628,535 (GRCm39) |
V116A |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,981,538 (GRCm39) |
F593I |
probably damaging |
Het |
Tmem171 |
C |
A |
13: 98,828,574 (GRCm39) |
R192L |
probably benign |
Het |
Trappc3l |
T |
A |
10: 33,978,703 (GRCm39) |
L169Q |
unknown |
Het |
Ube2s |
T |
C |
7: 4,811,431 (GRCm39) |
E148G |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,146,521 (GRCm39) |
F424S |
probably damaging |
Het |
Vmn1r2 |
T |
C |
4: 3,172,261 (GRCm39) |
V60A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,829,575 (GRCm39) |
|
probably null |
Het |
Zfp735 |
C |
T |
11: 73,602,964 (GRCm39) |
S636L |
possibly damaging |
Het |
Zswim9 |
G |
A |
7: 12,995,094 (GRCm39) |
S354F |
probably damaging |
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 |
|
R2356:Ipo9
|
UTSW |
1 |
135,334,555 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- AAGTGCATCTCAAGGCCAGAG -3'
(R):5'- AAAGTTCTCTGGGTGGAATAGG -3'
Sequencing Primer
(F):5'- CCAGAGAGGGCGGTAGAATGTTC -3'
(R):5'- GGGTTCCCTATAGCATTCTGTCACG -3'
|
Posted On |
2016-11-09 |