Incidental Mutation 'R0595:Tnpo2'
ID |
55069 |
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 |
038785-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0595 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 85778670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 672
(C672*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
AlphaFold |
Q99LG2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093360
AA Change: C672*
|
SMART Domains |
Protein: ENSMUSP00000091051 Gene: ENSMUSG00000031691 AA Change: C672*
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
AA Change: C672*
|
SMART Domains |
Protein: ENSMUSP00000133076 Gene: ENSMUSG00000031691 AA Change: C672*
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 null
Transcript: ENSMUST00000211601
AA Change: C672*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCCTGGTACAGAAGACACTGGC -3'
(R):5'- TCCAGAGTTAATCCTGAGGAACCACC -3'
Sequencing Primer
(F):5'- CACATGTTCTACTGCCCAGG -3'
(R):5'- agttggacagtggtaacacg -3'
|
Posted On |
2013-07-11 |