Incidental Mutation 'R5744:Tnpo2'
| ID |
445718 |
| 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 |
043197-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5744 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 85778523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 623
(Y623*)
|
| 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: Y623*
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: Y623*
| 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: Y623*
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: Y623*
| 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: Y623*
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,131 (GRCm39) |
I19V |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,586,977 (GRCm39) |
I943T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,981,890 (GRCm39) |
V1640A |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,823,394 (GRCm39) |
F1015S |
possibly damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,537,957 (GRCm39) |
|
probably null |
Het |
| Csgalnact2 |
C |
T |
6: 118,103,197 (GRCm39) |
G255E |
probably damaging |
Het |
| Ctla2a |
C |
T |
13: 61,083,767 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
T |
13: 9,618,441 (GRCm39) |
I497F |
probably damaging |
Het |
| Eif3f |
C |
A |
7: 108,537,624 (GRCm39) |
T179K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,563,380 (GRCm39) |
F376L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,102,991 (GRCm39) |
F590Y |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,046,009 (GRCm39) |
C433F |
possibly damaging |
Het |
| Gm7694 |
C |
T |
1: 170,130,075 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
G |
A |
2: 21,373,331 (GRCm39) |
G89R |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,415,475 (GRCm39) |
P4817S |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,852 (GRCm39) |
L9P |
possibly damaging |
Het |
| Igdcc3 |
TGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGC |
9: 65,048,770 (GRCm39) |
|
probably benign |
Het |
| Il1rap |
A |
C |
16: 26,498,974 (GRCm39) |
I158L |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,277,649 (GRCm39) |
S640P |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,014,211 (GRCm39) |
V205A |
probably damaging |
Het |
| Mfhas1 |
C |
A |
8: 36,056,636 (GRCm39) |
D370E |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,568,402 (GRCm39) |
S791P |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,437,679 (GRCm39) |
V925A |
possibly damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,802 (GRCm39) |
N619D |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,900,308 (GRCm39) |
L879P |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,086 (GRCm39) |
I100T |
probably benign |
Het |
| Or7a37 |
T |
C |
10: 78,806,017 (GRCm39) |
F178S |
probably damaging |
Het |
| Or9k2 |
T |
C |
10: 129,998,661 (GRCm39) |
D178G |
possibly damaging |
Het |
| Plxna1 |
C |
T |
6: 89,311,664 (GRCm39) |
R947Q |
possibly damaging |
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,311,081 (GRCm39) |
S277R |
probably null |
Het |
| Sel1l |
A |
T |
12: 91,776,754 (GRCm39) |
I746N |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,866,040 (GRCm39) |
D291N |
probably benign |
Het |
| Slc7a5 |
T |
C |
8: 122,615,121 (GRCm39) |
N242S |
probably benign |
Het |
| Smco3 |
T |
C |
6: 136,808,763 (GRCm39) |
N37S |
probably damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,990 (GRCm39) |
K38* |
probably null |
Het |
| Tfap2b |
T |
C |
1: 19,289,445 (GRCm39) |
M190T |
probably benign |
Het |
| Tomm70a |
G |
T |
16: 56,942,202 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
C |
11: 114,593,136 (GRCm39) |
|
probably null |
Het |
| Zbtb10 |
A |
G |
3: 9,329,623 (GRCm39) |
Y327C |
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 |
|
|
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 |
|
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'- CCTATCATCTGTGGCCACTG -3'
(R):5'- AAAACTTGGCCTGTTTAGGTATGG -3'
Sequencing Primer
(F):5'- TGCCCTGCAGAGTGGCTTC -3'
(R):5'- ACTTGGGAGTGGCTTATTATACCCAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation