Incidental Mutation 'IGL02721:Tnpo2'
| ID |
305034 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnpo2
|
| Ensembl Gene |
ENSMUSG00000031691 |
| Gene Name |
transportin 2 (importin 3, karyopherin beta 2b) |
| Synonyms |
Kpnb2b, 1110034O24Rik, TRN2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02721
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 85781319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093360
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
|
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
|
Pfam:HEAT_EZ
|
408 |
462 |
1.2e-13 |
PFAM |
|
Pfam:HEAT
|
436 |
466 |
2.8e-6 |
PFAM |
|
Pfam:HEAT
|
665 |
695 |
6.4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166592
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
|
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
|
Pfam:HEAT_EZ
|
408 |
462 |
2.7e-15 |
PFAM |
|
Pfam:HEAT
|
436 |
466 |
2.7e-6 |
PFAM |
|
Pfam:HEAT
|
665 |
695 |
2.1e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211601
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,888,124 (GRCm39) |
I398L |
probably benign |
Het |
| 4931414P19Rik |
A |
G |
14: 54,823,202 (GRCm39) |
S332P |
probably damaging |
Het |
| Abca7 |
T |
C |
10: 79,849,469 (GRCm39) |
S1877P |
possibly damaging |
Het |
| Adora2b |
G |
T |
11: 62,155,931 (GRCm39) |
A127S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,987,071 (GRCm39) |
K2785R |
probably benign |
Het |
| Anapc2 |
G |
A |
2: 25,164,680 (GRCm39) |
W21* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,512,493 (GRCm39) |
S457P |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,591,556 (GRCm39) |
Q1046R |
probably null |
Het |
| Comp |
A |
T |
8: 70,828,731 (GRCm39) |
N188Y |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,765,801 (GRCm39) |
I423K |
possibly damaging |
Het |
| Crtap |
A |
T |
9: 114,210,707 (GRCm39) |
V289E |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,958,852 (GRCm39) |
N454S |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,234,389 (GRCm39) |
|
probably null |
Het |
| Dstyk |
T |
G |
1: 132,377,054 (GRCm39) |
V220G |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,828,664 (GRCm39) |
V5M |
probably damaging |
Het |
| Fam111a |
T |
G |
19: 12,564,336 (GRCm39) |
N28K |
probably benign |
Het |
| Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
| Fgb |
A |
C |
3: 82,950,674 (GRCm39) |
V360G |
possibly damaging |
Het |
| Gm3404 |
A |
T |
5: 146,463,738 (GRCm39) |
R128* |
probably null |
Het |
| Hal |
G |
T |
10: 93,343,360 (GRCm39) |
G535* |
probably null |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,192,222 (GRCm39) |
S274T |
probably damaging |
Het |
| Kdm7a |
C |
T |
6: 39,150,371 (GRCm39) |
A134T |
possibly damaging |
Het |
| Klhl25 |
G |
T |
7: 75,516,648 (GRCm39) |
W518L |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,134,518 (GRCm39) |
D1778V |
probably benign |
Het |
| Nif3l1 |
A |
G |
1: 58,497,008 (GRCm39) |
D311G |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup54 |
A |
T |
5: 92,565,716 (GRCm39) |
I406N |
possibly damaging |
Het |
| Or10ab5 |
G |
T |
7: 108,245,582 (GRCm39) |
S67* |
probably null |
Het |
| Or2y1d |
T |
A |
11: 49,321,468 (GRCm39) |
L55* |
probably null |
Het |
| Or6c210 |
C |
T |
10: 129,495,824 (GRCm39) |
P50S |
probably benign |
Het |
| Or6c211 |
A |
T |
10: 129,505,992 (GRCm39) |
I132N |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,084 (GRCm39) |
M138K |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,699 (GRCm39) |
T27A |
probably benign |
Het |
| Plekhb2 |
A |
G |
1: 34,908,445 (GRCm39) |
N163S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,048,927 (GRCm39) |
|
probably benign |
Het |
| Sh3gl1 |
A |
G |
17: 56,324,577 (GRCm39) |
L357P |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,746 (GRCm39) |
D141V |
probably damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,399,595 (GRCm39) |
V355A |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,293,883 (GRCm39) |
K106E |
probably damaging |
Het |
| Ssh2 |
G |
T |
11: 77,345,551 (GRCm39) |
G1179* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,707,759 (GRCm39) |
N566S |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,986,189 (GRCm39) |
R149G |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,409,236 (GRCm38) |
L793P |
probably damaging |
Het |
| U2surp |
T |
A |
9: 95,356,488 (GRCm39) |
E789D |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,871,431 (GRCm39) |
|
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,270 (GRCm39) |
G424R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,308,367 (GRCm39) |
D531G |
possibly damaging |
Het |
| Zfp787 |
C |
T |
7: 6,135,463 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tnpo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Tnpo2
|
APN |
8 |
85,767,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01843:Tnpo2
|
APN |
8 |
85,777,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02475:Tnpo2
|
APN |
8 |
85,777,131 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02536:Tnpo2
|
APN |
8 |
85,771,696 (GRCm39) |
missense |
probably benign |
|
|
IGL02644:Tnpo2
|
APN |
8 |
85,771,109 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03155:Tnpo2
|
APN |
8 |
85,771,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03198:Tnpo2
|
APN |
8 |
85,778,347 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
boisterous
|
UTSW |
8 |
85,776,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Raucous
|
UTSW |
8 |
85,767,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Tnpo2
|
UTSW |
8 |
85,767,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Tnpo2
|
UTSW |
8 |
85,781,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Tnpo2
|
UTSW |
8 |
85,773,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0513:Tnpo2
|
UTSW |
8 |
85,780,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0531:Tnpo2
|
UTSW |
8 |
85,776,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Tnpo2
|
UTSW |
8 |
85,778,670 (GRCm39) |
nonsense |
probably null |
|
|
R1113:Tnpo2
|
UTSW |
8 |
85,781,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:Tnpo2
|
UTSW |
8 |
85,781,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Tnpo2
|
UTSW |
8 |
85,778,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Tnpo2
|
UTSW |
8 |
85,771,946 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2057:Tnpo2
|
UTSW |
8 |
85,776,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Tnpo2
|
UTSW |
8 |
85,780,475 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3801:Tnpo2
|
UTSW |
8 |
85,781,800 (GRCm39) |
splice site |
probably null |
|
|
R3871:Tnpo2
|
UTSW |
8 |
85,781,380 (GRCm39) |
missense |
probably null |
0.98 |
|
R4095:Tnpo2
|
UTSW |
8 |
85,765,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Tnpo2
|
UTSW |
8 |
85,780,432 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4925:Tnpo2
|
UTSW |
8 |
85,776,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Tnpo2
|
UTSW |
8 |
85,778,523 (GRCm39) |
nonsense |
probably null |
|
|
R6107:Tnpo2
|
UTSW |
8 |
85,780,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6581:Tnpo2
|
UTSW |
8 |
85,782,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Tnpo2
|
UTSW |
8 |
85,771,831 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7173:Tnpo2
|
UTSW |
8 |
85,781,707 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7196:Tnpo2
|
UTSW |
8 |
85,773,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7382:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7383:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7384:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7385:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7453:Tnpo2
|
UTSW |
8 |
85,781,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Tnpo2
|
UTSW |
8 |
85,781,663 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7638:Tnpo2
|
UTSW |
8 |
85,771,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8004:Tnpo2
|
UTSW |
8 |
85,771,328 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8021:Tnpo2
|
UTSW |
8 |
85,781,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8042:Tnpo2
|
UTSW |
8 |
85,778,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Tnpo2
|
UTSW |
8 |
85,773,926 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8794:Tnpo2
|
UTSW |
8 |
85,765,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9031:Tnpo2
|
UTSW |
8 |
85,780,163 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9218:Tnpo2
|
UTSW |
8 |
85,776,609 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9456:Tnpo2
|
UTSW |
8 |
85,774,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9747:Tnpo2
|
UTSW |
8 |
85,781,988 (GRCm39) |
missense |
probably benign |
|
|
X0027:Tnpo2
|
UTSW |
8 |
85,771,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation