Incidental Mutation 'R6167:Tmpo'
| ID |
490198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmpo
|
| Ensembl Gene |
ENSMUSG00000019961 |
| Gene Name |
thymopoietin |
| Synonyms |
TP, LAP2, lamina-associated polypeptide 2, 5630400D24Rik |
| MMRRC Submission |
044313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
90983433-91017177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90998800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 329
(R329H)
|
| 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 benign
Transcript: ENSMUST00000020123
AA Change: R329H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: R329H
| 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 benign
Transcript: ENSMUST00000072239
|
| SMART Domains |
Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961
| 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 benign
Transcript: ENSMUST00000092219
|
| SMART Domains |
Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961
| 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 benign
Transcript: ENSMUST00000099355
|
| SMART Domains |
Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961
| 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 benign
Transcript: ENSMUST00000105293
|
| SMART Domains |
Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961
| 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: ENSMUST00000216501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216402
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
| Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
| Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,928,077 (GRCm39) |
Y43F |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,433,287 (GRCm39) |
I453V |
probably benign |
Het |
| Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
| Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,374,271 (GRCm39) |
I538T |
probably damaging |
Het |
| Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
| Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
| Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,190 (GRCm39) |
M825K |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
| Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
| Mak |
C |
A |
13: 41,206,828 (GRCm39) |
V101F |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
| Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
| Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
| P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
| Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
| Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
| Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
| Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
| Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
| Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
probably damaging |
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 |
|
IGL01382:Tmpo
|
APN |
10 |
91,001,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGGACTAACAGAGAATTGAC -3'
(R):5'- TTGTACTGATACGGCCTTGC -3'
Sequencing Primer
(F):5'- GACATAATCTCGAATTGCCTGAGC -3'
(R):5'- ACAAGTTAGCCCCTGGACG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation