Incidental Mutation 'IGL01382:Tmpo'
| ID |
78889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmpo
|
| Ensembl Gene |
ENSMUSG00000019961 |
| Gene Name |
thymopoietin |
| Synonyms |
TP, LAP2, lamina-associated polypeptide 2, 5630400D24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
90983433-91017177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91001912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 99
(D99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020123]
[ENSMUST00000072239]
[ENSMUST00000092219]
[ENSMUST00000099355]
[ENSMUST00000105293]
|
| AlphaFold |
Q61033 |
| PDB Structure |
THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020123
AA Change: D99G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
Thymopoietin
|
2 |
50 |
8.83e-30 |
SMART |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
LEM
|
109 |
152 |
5.83e-21 |
SMART |
|
low complexity region
|
189 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
422 |
N/A |
INTRINSIC |
|
Pfam:LAP2alpha
|
459 |
692 |
6.4e-155 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072239
AA Change: D99G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
Thymopoietin
|
2 |
50 |
8.83e-30 |
SMART |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
LEM
|
109 |
152 |
5.83e-21 |
SMART |
|
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
|
transmembrane domain
|
410 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092219
AA Change: D99G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
Thymopoietin
|
2 |
50 |
8.83e-30 |
SMART |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
LEM
|
109 |
152 |
5.83e-21 |
SMART |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099355
AA Change: D99G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
Thymopoietin
|
2 |
50 |
8.83e-30 |
SMART |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
LEM
|
109 |
152 |
5.83e-21 |
SMART |
|
transmembrane domain
|
338 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105293
AA Change: D99G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
Thymopoietin
|
2 |
50 |
8.83e-30 |
SMART |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
LEM
|
109 |
152 |
5.83e-21 |
SMART |
|
transmembrane domain
|
301 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216402
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00768:Tmpo
|
APN |
10 |
91,000,068 (GRCm39) |
splice site |
probably benign |
|
|
IGL00791:Tmpo
|
APN |
10 |
90,998,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00919:Tmpo
|
APN |
10 |
90,998,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01806:Tmpo
|
APN |
10 |
90,999,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01813:Tmpo
|
APN |
10 |
90,999,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01838:Tmpo
|
APN |
10 |
90,999,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01952:Tmpo
|
APN |
10 |
90,999,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02110:Tmpo
|
APN |
10 |
90,998,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Tmpo
|
APN |
10 |
90,999,998 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02191:Tmpo
|
APN |
10 |
90,997,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02338:Tmpo
|
APN |
10 |
90,999,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4366001:Tmpo
|
UTSW |
10 |
90,999,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4544001:Tmpo
|
UTSW |
10 |
90,997,976 (GRCm39) |
missense |
probably benign |
|
|
R0133:Tmpo
|
UTSW |
10 |
90,999,900 (GRCm39) |
splice site |
probably benign |
|
|
R0450:Tmpo
|
UTSW |
10 |
90,998,958 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0469:Tmpo
|
UTSW |
10 |
90,998,958 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0836:Tmpo
|
UTSW |
10 |
90,997,815 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Tmpo
|
UTSW |
10 |
90,999,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Tmpo
|
UTSW |
10 |
90,988,548 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4059:Tmpo
|
UTSW |
10 |
90,998,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4296:Tmpo
|
UTSW |
10 |
90,998,818 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4741:Tmpo
|
UTSW |
10 |
90,998,506 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4881:Tmpo
|
UTSW |
10 |
90,998,503 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4915:Tmpo
|
UTSW |
10 |
90,985,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Tmpo
|
UTSW |
10 |
90,985,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Tmpo
|
UTSW |
10 |
90,989,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Tmpo
|
UTSW |
10 |
90,999,976 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5301:Tmpo
|
UTSW |
10 |
90,985,650 (GRCm39) |
intron |
probably benign |
|
|
R6167:Tmpo
|
UTSW |
10 |
90,998,800 (GRCm39) |
missense |
probably benign |
|
|
R6190:Tmpo
|
UTSW |
10 |
91,000,069 (GRCm39) |
splice site |
probably null |
|
|
R6979:Tmpo
|
UTSW |
10 |
90,988,359 (GRCm39) |
splice site |
probably null |
|
|
R7880:Tmpo
|
UTSW |
10 |
91,001,892 (GRCm39) |
nonsense |
probably null |
|
|
R8343:Tmpo
|
UTSW |
10 |
90,997,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8492:Tmpo
|
UTSW |
10 |
90,997,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8870:Tmpo
|
UTSW |
10 |
90,987,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Tmpo
|
UTSW |
10 |
90,989,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9328:Tmpo
|
UTSW |
10 |
90,998,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Tmpo
|
UTSW |
10 |
90,994,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Tmpo
|
UTSW |
10 |
90,998,722 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2013-11-05 |
Incidental Mutation