Incidental Mutation 'R0791:Ipo8'
| ID |
82391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo8
|
| Ensembl Gene |
ENSMUSG00000040029 |
| Gene Name |
importin 8 |
| Synonyms |
C130009K11Rik, Om1, Ranbp8, OM-1, 6230418K12Rik |
| MMRRC Submission |
038971-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0791 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148672181-148732965 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148723225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 64
(V64A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048418]
[ENSMUST00000145960]
[ENSMUST00000204936]
|
| AlphaFold |
Q7TMY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048418
AA Change: V64A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: V64A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
22 |
102 |
1.59e-13 |
SMART |
|
Pfam:Cse1
|
166 |
470 |
6.6e-11 |
PFAM |
|
low complexity region
|
895 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145743
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145960
AA Change: V64A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117365
Gene: ENSMUSG00000040029
AA Change: V64A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
22 |
102 |
1.59e-13 |
SMART |
|
low complexity region
|
176 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205196
|
| Meta Mutation Damage Score |
0.3715 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
| Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
| Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
| Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
| H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
| Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
| Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,775,107 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
| Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
| Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
| Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
| Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
| Tymp |
T |
C |
15: 89,259,021 (GRCm39) |
K221R |
probably damaging |
Het |
| Uaca |
C |
A |
9: 60,779,341 (GRCm39) |
Q1243K |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
| Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
probably benign |
Het |
|
| Other mutations in Ipo8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ipo8
|
APN |
6 |
148,684,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01012:Ipo8
|
APN |
6 |
148,690,561 (GRCm39) |
splice site |
probably benign |
|
|
IGL01124:Ipo8
|
APN |
6 |
148,678,874 (GRCm39) |
missense |
probably benign |
|
|
IGL01978:Ipo8
|
APN |
6 |
148,678,787 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02111:Ipo8
|
APN |
6 |
148,701,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Ipo8
|
APN |
6 |
148,678,782 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02589:Ipo8
|
APN |
6 |
148,711,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02690:Ipo8
|
APN |
6 |
148,678,861 (GRCm39) |
missense |
probably benign |
|
|
IGL02724:Ipo8
|
APN |
6 |
148,692,979 (GRCm39) |
nonsense |
probably null |
|
|
IGL02935:Ipo8
|
APN |
6 |
148,691,339 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03027:Ipo8
|
APN |
6 |
148,678,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03065:Ipo8
|
APN |
6 |
148,686,205 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03338:Ipo8
|
APN |
6 |
148,701,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
important
|
UTSW |
6 |
148,717,995 (GRCm39) |
nonsense |
probably null |
|
|
R0032:Ipo8
|
UTSW |
6 |
148,712,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0032:Ipo8
|
UTSW |
6 |
148,712,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0088:Ipo8
|
UTSW |
6 |
148,703,434 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0373:Ipo8
|
UTSW |
6 |
148,676,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Ipo8
|
UTSW |
6 |
148,719,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0565:Ipo8
|
UTSW |
6 |
148,688,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0660:Ipo8
|
UTSW |
6 |
148,701,711 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0664:Ipo8
|
UTSW |
6 |
148,701,711 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0989:Ipo8
|
UTSW |
6 |
148,698,180 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1416:Ipo8
|
UTSW |
6 |
148,690,591 (GRCm39) |
missense |
probably benign |
|
|
R1417:Ipo8
|
UTSW |
6 |
148,719,550 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1590:Ipo8
|
UTSW |
6 |
148,712,163 (GRCm39) |
splice site |
probably null |
|
|
R1703:Ipo8
|
UTSW |
6 |
148,691,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Ipo8
|
UTSW |
6 |
148,684,226 (GRCm39) |
missense |
probably benign |
|
|
R2079:Ipo8
|
UTSW |
6 |
148,690,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Ipo8
|
UTSW |
6 |
148,691,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2359:Ipo8
|
UTSW |
6 |
148,717,975 (GRCm39) |
splice site |
probably benign |
|
|
R2696:Ipo8
|
UTSW |
6 |
148,698,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3407:Ipo8
|
UTSW |
6 |
148,723,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3408:Ipo8
|
UTSW |
6 |
148,723,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3709:Ipo8
|
UTSW |
6 |
148,707,842 (GRCm39) |
splice site |
probably null |
|
|
R3710:Ipo8
|
UTSW |
6 |
148,707,842 (GRCm39) |
splice site |
probably null |
|
|
R3945:Ipo8
|
UTSW |
6 |
148,719,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Ipo8
|
UTSW |
6 |
148,701,662 (GRCm39) |
unclassified |
probably benign |
|
|
R4329:Ipo8
|
UTSW |
6 |
148,701,662 (GRCm39) |
unclassified |
probably benign |
|
|
R6105:Ipo8
|
UTSW |
6 |
148,700,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Ipo8
|
UTSW |
6 |
148,701,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Ipo8
|
UTSW |
6 |
148,678,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6377:Ipo8
|
UTSW |
6 |
148,717,995 (GRCm39) |
nonsense |
probably null |
|
|
R6724:Ipo8
|
UTSW |
6 |
148,711,473 (GRCm39) |
splice site |
probably null |
|
|
R7283:Ipo8
|
UTSW |
6 |
148,725,979 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7436:Ipo8
|
UTSW |
6 |
148,691,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7445:Ipo8
|
UTSW |
6 |
148,691,315 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8044:Ipo8
|
UTSW |
6 |
148,711,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Ipo8
|
UTSW |
6 |
148,698,176 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8812:Ipo8
|
UTSW |
6 |
148,676,575 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8943:Ipo8
|
UTSW |
6 |
148,676,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9067:Ipo8
|
UTSW |
6 |
148,678,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Ipo8
|
UTSW |
6 |
148,700,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9297:Ipo8
|
UTSW |
6 |
148,703,076 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9419:Ipo8
|
UTSW |
6 |
148,686,064 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Ipo8
|
UTSW |
6 |
148,698,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCCTCAGATCATGCAGACAG -3'
(R):5'- TCAGCAGCAGACAGCAGGTTTAC -3'
Sequencing Primer
(F):5'- ACAGGGTGTGGCCTACCTC -3'
(R):5'- GCAGACAGCAGGTTTACTGTTAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation