Incidental Mutation 'IGL02536:Tnpo2'
| ID |
297501 |
| 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 # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85771696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 245
(I245F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000210945]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093360
AA Change: I245F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: I245F
| 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 |
probably benign
Transcript: ENSMUST00000166592
AA Change: I245F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: I245F
| 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 benign
Transcript: ENSMUST00000210945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211601
AA Change: I245F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
probably 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 |
|
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 |
|
|
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