Incidental Mutation 'IGL01338:Tnpo2'
| ID |
74698 |
| 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, TRN2, 1110034O24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85036915-85057583 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85040526 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 55
(L55P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000210945]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093360
AA Change: L55P
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: L55P
| 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 |
possibly damaging
Transcript: ENSMUST00000166592
AA Change: L55P
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: L55P
| 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: ENSMUST00000210117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210945
AA Change: L55P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211601
AA Change: L55P
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004E09Rik |
T |
C |
16: 90,926,048 (GRCm38) |
N266S |
possibly damaging |
Het |
| Adam23 |
A |
G |
1: 63,551,855 (GRCm38) |
T494A |
possibly damaging |
Het |
| Adamts16 |
C |
T |
13: 70,836,115 (GRCm38) |
C143Y |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,348,380 (GRCm38) |
I195V |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,404,464 (GRCm38) |
S17P |
probably benign |
Het |
| Cox6a1 |
C |
A |
5: 115,345,839 (GRCm38) |
|
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,974,655 (GRCm38) |
S48C |
possibly damaging |
Het |
| Cyp2b19 |
G |
T |
7: 26,759,417 (GRCm38) |
M138I |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,919,404 (GRCm38) |
Y510C |
possibly damaging |
Het |
| Derl2 |
A |
G |
11: 71,010,355 (GRCm38) |
F229S |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 119,120,911 (GRCm38) |
E452G |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,047,157 (GRCm38) |
K180E |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,793,092 (GRCm38) |
R177C |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,863,020 (GRCm38) |
I167V |
probably damaging |
Het |
| Fam219b |
A |
T |
9: 57,538,022 (GRCm38) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,626,210 (GRCm38) |
E916G |
probably damaging |
Het |
| Gm2058 |
C |
T |
7: 39,589,156 (GRCm38) |
|
noncoding transcript |
Het |
| Gpd1 |
T |
A |
15: 99,718,175 (GRCm38) |
V22E |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,501,379 (GRCm38) |
F124L |
probably damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,820,099 (GRCm38) |
|
probably benign |
Het |
| Igfbp3 |
A |
T |
11: 7,208,478 (GRCm38) |
F262I |
possibly damaging |
Het |
| Klhl18 |
A |
G |
9: 110,455,433 (GRCm38) |
Y62H |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,188,272 (GRCm38) |
E1238K |
probably benign |
Het |
| Man1b1 |
A |
G |
2: 25,338,227 (GRCm38) |
K170E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,249,501 (GRCm38) |
I39N |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,049,628 (GRCm38) |
|
probably benign |
Het |
| Neu3 |
C |
A |
7: 99,813,422 (GRCm38) |
G365W |
probably damaging |
Het |
| Nipal3 |
A |
C |
4: 135,471,883 (GRCm38) |
|
probably null |
Het |
| Nrxn3 |
A |
G |
12: 89,255,034 (GRCm38) |
I528V |
possibly damaging |
Het |
| Olfr122 |
A |
T |
17: 37,771,839 (GRCm38) |
H71L |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,267,747 (GRCm38) |
K204R |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,435,919 (GRCm38) |
S318P |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,756,141 (GRCm38) |
N242Y |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,059,520 (GRCm38) |
K649* |
probably null |
Het |
| Ppm1n |
A |
T |
7: 19,279,254 (GRCm38) |
D257E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,002,797 (GRCm38) |
E811G |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,616,373 (GRCm38) |
I218V |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 37,931,034 (GRCm38) |
C790R |
probably damaging |
Het |
| Rtkn2 |
G |
T |
10: 68,025,519 (GRCm38) |
C258F |
possibly damaging |
Het |
| Scn11a |
G |
A |
9: 119,784,161 (GRCm38) |
|
probably benign |
Het |
| Snx8 |
G |
A |
5: 140,358,096 (GRCm38) |
R96C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,060,226 (GRCm38) |
T5649S |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,695,222 (GRCm38) |
C82* |
probably null |
Het |
| Tsc22d2 |
T |
C |
3: 58,417,415 (GRCm38) |
|
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,394,729 (GRCm38) |
V19G |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,119 (GRCm38) |
I86V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 145,088,322 (GRCm38) |
T3153I |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,636 (GRCm38) |
I753T |
probably damaging |
Het |
|
| Other mutations in Tnpo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01843:Tnpo2
|
APN |
8 |
85,050,508 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02475:Tnpo2
|
APN |
8 |
85,050,502 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02536:Tnpo2
|
APN |
8 |
85,045,067 (GRCm38) |
missense |
probably benign |
|
|
IGL02644:Tnpo2
|
APN |
8 |
85,044,480 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02721:Tnpo2
|
APN |
8 |
85,054,690 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03155:Tnpo2
|
APN |
8 |
85,045,080 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03198:Tnpo2
|
APN |
8 |
85,051,718 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
boisterous
|
UTSW |
8 |
85,050,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Raucous
|
UTSW |
8 |
85,040,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0127:Tnpo2
|
UTSW |
8 |
85,040,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0456:Tnpo2
|
UTSW |
8 |
85,054,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0505:Tnpo2
|
UTSW |
8 |
85,047,362 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0513:Tnpo2
|
UTSW |
8 |
85,053,529 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0531:Tnpo2
|
UTSW |
8 |
85,050,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0595:Tnpo2
|
UTSW |
8 |
85,052,041 (GRCm38) |
nonsense |
probably null |
|
|
R1113:Tnpo2
|
UTSW |
8 |
85,055,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1308:Tnpo2
|
UTSW |
8 |
85,055,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Tnpo2
|
UTSW |
8 |
85,051,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1965:Tnpo2
|
UTSW |
8 |
85,045,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2057:Tnpo2
|
UTSW |
8 |
85,050,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Tnpo2
|
UTSW |
8 |
85,053,846 (GRCm38) |
missense |
probably benign |
0.35 |
|
R3801:Tnpo2
|
UTSW |
8 |
85,055,171 (GRCm38) |
splice site |
probably null |
|
|
R3871:Tnpo2
|
UTSW |
8 |
85,054,751 (GRCm38) |
missense |
probably null |
0.98 |
|
R4095:Tnpo2
|
UTSW |
8 |
85,038,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4611:Tnpo2
|
UTSW |
8 |
85,053,803 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4925:Tnpo2
|
UTSW |
8 |
85,050,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5744:Tnpo2
|
UTSW |
8 |
85,051,894 (GRCm38) |
nonsense |
probably null |
|
|
R6107:Tnpo2
|
UTSW |
8 |
85,053,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6581:Tnpo2
|
UTSW |
8 |
85,055,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6586:Tnpo2
|
UTSW |
8 |
85,045,202 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7173:Tnpo2
|
UTSW |
8 |
85,055,078 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7196:Tnpo2
|
UTSW |
8 |
85,047,137 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7382:Tnpo2
|
UTSW |
8 |
85,050,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7383:Tnpo2
|
UTSW |
8 |
85,050,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7384:Tnpo2
|
UTSW |
8 |
85,050,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7385:Tnpo2
|
UTSW |
8 |
85,050,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7453:Tnpo2
|
UTSW |
8 |
85,055,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7488:Tnpo2
|
UTSW |
8 |
85,055,034 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7638:Tnpo2
|
UTSW |
8 |
85,044,415 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8004:Tnpo2
|
UTSW |
8 |
85,044,699 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8021:Tnpo2
|
UTSW |
8 |
85,055,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8042:Tnpo2
|
UTSW |
8 |
85,051,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8403:Tnpo2
|
UTSW |
8 |
85,047,297 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8794:Tnpo2
|
UTSW |
8 |
85,038,485 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9031:Tnpo2
|
UTSW |
8 |
85,053,534 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9218:Tnpo2
|
UTSW |
8 |
85,049,980 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9456:Tnpo2
|
UTSW |
8 |
85,047,386 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9747:Tnpo2
|
UTSW |
8 |
85,055,359 (GRCm38) |
missense |
probably benign |
|
|
X0027:Tnpo2
|
UTSW |
8 |
85,044,895 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-10-07 |
Incidental Mutation