Incidental Mutation 'IGL02644:Tnpo2'
ID |
301851 |
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 # |
IGL02644
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85771109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 132
(C132S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000210945]
[ENSMUST00000211601]
|
AlphaFold |
Q99LG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093360
AA Change: C132S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091051 Gene: ENSMUSG00000031691 AA Change: C132S
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: C132S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133076 Gene: ENSMUSG00000031691 AA Change: C132S
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 |
possibly damaging
Transcript: ENSMUST00000210945
AA Change: C132S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211601
AA Change: C132S
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,812,776 (GRCm39) |
D511G |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
Aspa |
T |
A |
11: 73,212,992 (GRCm39) |
T117S |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
Mtf1 |
T |
G |
4: 124,714,028 (GRCm39) |
C146G |
probably damaging |
Het |
Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,655,357 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
T |
11: 4,053,380 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
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 |
IGL02536:Tnpo2
|
APN |
8 |
85,771,696 (GRCm39) |
missense |
probably benign |
|
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 |