Incidental Mutation 'R9218:Tnpo2'
| ID |
699317 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85776609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 439
(H439N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093360
AA Change: H439N
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: H439N
| 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 |
possibly damaging
Transcript: ENSMUST00000166592
AA Change: H439N
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: H439N
| 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 |
probably benign
Transcript: ENSMUST00000211601
AA Change: H439N
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (57/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,610,460 (GRCm39) |
T378A |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,977,960 (GRCm39) |
M513V |
probably benign |
Het |
| Abhd18 |
T |
C |
3: 40,871,201 (GRCm39) |
|
probably null |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,404 (GRCm39) |
Y561* |
probably null |
Het |
| Alx4 |
T |
A |
2: 93,473,172 (GRCm39) |
F57I |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,584,959 (GRCm39) |
|
probably null |
Het |
| Arsj |
A |
C |
3: 126,232,114 (GRCm39) |
N287H |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,114,529 (GRCm39) |
C1387S |
probably benign |
Het |
| Cabp4 |
T |
A |
19: 4,188,693 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
C |
T |
7: 130,863,728 (GRCm39) |
H1244Y |
unknown |
Het |
| Cdh6 |
T |
C |
15: 13,057,556 (GRCm39) |
N255S |
probably null |
Het |
| Ctrb1 |
C |
T |
8: 112,416,140 (GRCm39) |
V49M |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,583 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dcst1 |
A |
T |
3: 89,272,412 (GRCm39) |
I17N |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,507,592 (GRCm39) |
H823Y |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,651,066 (GRCm39) |
L84R |
possibly damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,823,062 (GRCm39) |
P6265L |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,239,388 (GRCm39) |
K168M |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,922,203 (GRCm39) |
L541P |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,354 (GRCm39) |
H364R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Inf2 |
G |
A |
12: 112,567,858 (GRCm39) |
D163N |
possibly damaging |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Iqck |
C |
T |
7: 118,540,902 (GRCm39) |
A267V |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,135,938 (GRCm39) |
N66I |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,541,583 (GRCm39) |
E1239V |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,871,816 (GRCm39) |
D362G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,361,098 (GRCm39) |
S1470T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,183,638 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,312 (GRCm39) |
L151* |
probably null |
Het |
| Or4e1 |
A |
T |
14: 52,700,788 (GRCm39) |
V226E |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,373 (GRCm39) |
I230T |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,542,469 (GRCm39) |
Q693L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,344 (GRCm39) |
S753F |
probably damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,128 (GRCm39) |
S1632* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,122 (GRCm39) |
T1171A |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,501 (GRCm39) |
F104L |
probably damaging |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,867,945 (GRCm39) |
V850I |
probably benign |
Het |
| Psmd5 |
G |
T |
2: 34,747,794 (GRCm39) |
Q288K |
probably benign |
Het |
| Rab37 |
G |
A |
11: 115,051,475 (GRCm39) |
R194H |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,621,677 (GRCm39) |
A273V |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,480 (GRCm39) |
S776P |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,101 (GRCm39) |
C65R |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,307,162 (GRCm39) |
R275H |
possibly damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,335,623 (GRCm39) |
A318T |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,670,705 (GRCm39) |
I618L |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,670,556 (GRCm39) |
F72L |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,049 (GRCm39) |
K135E |
possibly damaging |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Tut4 |
A |
T |
4: 108,370,083 (GRCm39) |
K661* |
probably null |
Het |
| Txlnb |
C |
T |
10: 17,718,570 (GRCm39) |
S467F |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,435,948 (GRCm39) |
P81S |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,609 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,270 (GRCm39) |
T699A |
possibly damaging |
Het |
| Vps9d1 |
G |
A |
8: 123,977,674 (GRCm39) |
T87I |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,520,501 (GRCm39) |
V541A |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,809,415 (GRCm39) |
L295Q |
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 |
|
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 |
|
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'- GTTGTATTGGATATGCCCCAGCC -3'
(R):5'- TGAACCCGCTTATTGCCATC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GCTTATTGCCATCCAAGATACG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation