Incidental Mutation 'R6107:Tnpo2'
| ID |
485559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo2
|
| Ensembl Gene |
ENSMUSG00000031691 |
| Gene Name |
transportin 2 (importin 3, karyopherin beta 2b) |
| Synonyms |
Kpnb2b, 1110034O24Rik, TRN2 |
| MMRRC Submission |
044257-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6107 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85780104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 680
(V680A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093360
AA Change: V680A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: V680A
| 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 damaging
Transcript: ENSMUST00000166592
AA Change: V680A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: V680A
| 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 damaging
Transcript: ENSMUST00000211601
AA Change: V680A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
| E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
| Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
| Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
| Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
| Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
| Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
| Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
| Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
| Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
| Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
| Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
| Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
| Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
| Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
| Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
| Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
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 |
|
IGL02721:Tnpo2
|
APN |
8 |
85,781,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAACTCCAACCCCGTGTC -3'
(R):5'- CAAGCTCCCAGAACTGACTG -3'
Sequencing Primer
(F):5'- AACCCCGTGTCCTGGGAAAC -3'
(R):5'- AGAACTGACTGGGCAGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation