Incidental Mutation 'R1702:Tpp2'
| ID |
189760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpp2
|
| Ensembl Gene |
ENSMUSG00000041763 |
| Gene Name |
tripeptidyl peptidase II |
| Synonyms |
TppII |
| MMRRC Submission |
039735-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.607)
|
| Stock # |
R1702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
43973130-44042160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44029708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 997
(P997L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087933]
[ENSMUST00000188302]
[ENSMUST00000188313]
[ENSMUST00000189388]
[ENSMUST00000190207]
|
| AlphaFold |
Q64514 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087933
AA Change: P1010L
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: P1010L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S8
|
35 |
500 |
1.4e-96 |
PFAM |
|
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
|
Pfam:TPPII
|
777 |
964 |
2.4e-80 |
PFAM |
|
low complexity region
|
1017 |
1033 |
N/A |
INTRINSIC |
|
PDB:3LXU|X
|
1034 |
1262 |
1e-20 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188302
|
| SMART Domains |
Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S8
|
39 |
509 |
4.3e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188313
AA Change: P997L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: P997L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S8
|
39 |
509 |
5.1e-83 |
PFAM |
|
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
|
Pfam:TPPII
|
773 |
966 |
2.7e-93 |
PFAM |
|
low complexity region
|
1004 |
1020 |
N/A |
INTRINSIC |
|
PDB:3LXU|X
|
1021 |
1249 |
1e-20 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189388
|
| SMART Domains |
Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S8
|
39 |
509 |
2.3e-81 |
PFAM |
|
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
|
Pfam:TPPII
|
773 |
880 |
7.8e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190207
AA Change: P63L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: P63L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
PDB:3LXU|X
|
87 |
281 |
3e-19 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]
PHENOTYPE: Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,981,925 (GRCm39) |
V1080A |
probably benign |
Het |
| Abcg4 |
A |
C |
9: 44,186,370 (GRCm39) |
V553G |
probably damaging |
Het |
| Ache |
T |
C |
5: 137,289,251 (GRCm39) |
V319A |
possibly damaging |
Het |
| Acsm2 |
T |
A |
7: 119,172,787 (GRCm39) |
M134K |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,749,548 (GRCm39) |
S494T |
probably benign |
Het |
| Asic3 |
A |
T |
5: 24,620,454 (GRCm39) |
T202S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,779 (GRCm39) |
H886L |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,179,854 (GRCm39) |
C2126S |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,499,491 (GRCm39) |
I126K |
probably damaging |
Het |
| Cmklr1 |
T |
G |
5: 113,751,903 (GRCm39) |
K366T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,061,848 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
A |
G |
6: 55,069,520 (GRCm39) |
F378S |
probably damaging |
Het |
| Deaf1 |
C |
G |
7: 140,894,867 (GRCm39) |
R303T |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,021 (GRCm39) |
N1343Y |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,544,509 (GRCm39) |
K99E |
possibly damaging |
Het |
| Dpp4 |
A |
T |
2: 62,216,773 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,206,421 (GRCm39) |
V598A |
probably damaging |
Het |
| Ece2 |
C |
T |
16: 20,449,996 (GRCm39) |
R136C |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,581,832 (GRCm39) |
P58L |
probably benign |
Het |
| Egf |
C |
A |
3: 129,484,460 (GRCm39) |
V453L |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,317,216 (GRCm39) |
F342L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,164,063 (GRCm39) |
I434N |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,512 (GRCm39) |
T936A |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,500 (GRCm39) |
E180V |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,634,848 (GRCm39) |
T112A |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,754,242 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,603,089 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
T |
A |
7: 42,469,655 (GRCm39) |
Q156H |
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
| Homez |
T |
A |
14: 55,094,452 (GRCm39) |
T419S |
probably damaging |
Het |
| Igfbp6 |
T |
A |
15: 102,056,617 (GRCm39) |
Y184* |
probably null |
Het |
| Il11 |
A |
G |
7: 4,776,733 (GRCm39) |
S86P |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,197 (GRCm39) |
N270S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,066,525 (GRCm39) |
R1119G |
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,494,822 (GRCm39) |
N294K |
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,145,948 (GRCm39) |
I113M |
possibly damaging |
Het |
| Mgat5b |
A |
G |
11: 116,839,485 (GRCm39) |
T334A |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,518 (GRCm39) |
I65T |
probably benign |
Het |
| Mmrn2 |
A |
T |
14: 34,119,871 (GRCm39) |
N247I |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,236,752 (GRCm39) |
N322K |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,359,883 (GRCm39) |
H551R |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,742,314 (GRCm39) |
V942E |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,286 (GRCm39) |
E515G |
probably benign |
Het |
| Nfatc3 |
T |
G |
8: 106,818,792 (GRCm39) |
S503R |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,158,339 (GRCm39) |
|
probably null |
Het |
| Noxa1 |
A |
G |
2: 24,982,596 (GRCm39) |
V73A |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,514,302 (GRCm39) |
E83D |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,655 (GRCm39) |
Y289* |
probably null |
Het |
| Or4z4 |
C |
A |
19: 12,076,530 (GRCm39) |
V158L |
probably benign |
Het |
| Or5ac23 |
C |
A |
16: 59,149,504 (GRCm39) |
V123L |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,839 (GRCm39) |
Y284C |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,187 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
A |
G |
5: 8,562,318 (GRCm39) |
V350A |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,148,567 (GRCm39) |
D993N |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,736,641 (GRCm39) |
G226V |
probably null |
Het |
| Septin11 |
T |
A |
5: 93,304,783 (GRCm39) |
I200N |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,384,099 (GRCm39) |
G14C |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,270,862 (GRCm39) |
K153R |
possibly damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,297,452 (GRCm39) |
D5G |
possibly damaging |
Het |
| Stoml3 |
A |
T |
3: 53,412,852 (GRCm39) |
T169S |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,559,125 (GRCm39) |
I83K |
possibly damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,957 (GRCm39) |
Q1389L |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,943,923 (GRCm39) |
D180E |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,462 (GRCm39) |
V925D |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,809,708 (GRCm39) |
V130A |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,722,784 (GRCm39) |
I127N |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,661,562 (GRCm39) |
F142L |
possibly damaging |
Het |
| Usf3 |
C |
T |
16: 44,039,995 (GRCm39) |
Q1492* |
probably null |
Het |
| Vcp |
T |
C |
4: 42,990,840 (GRCm39) |
D205G |
probably damaging |
Het |
| Vmn1r180 |
G |
A |
7: 23,652,394 (GRCm39) |
V186I |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,206,267 (GRCm39) |
S496P |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,441,135 (GRCm39) |
I480T |
probably benign |
Het |
| Xylt2 |
T |
A |
11: 94,559,571 (GRCm39) |
H357L |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,056 (GRCm39) |
S375P |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,100 (GRCm39) |
Y266* |
probably null |
Het |
| Zfp600 |
A |
G |
4: 146,133,497 (GRCm39) |
T722A |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,265,424 (GRCm39) |
H55L |
possibly damaging |
Het |
|
| Other mutations in Tpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Tpp2
|
APN |
1 |
44,022,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01021:Tpp2
|
APN |
1 |
43,973,347 (GRCm39) |
nonsense |
probably null |
|
|
IGL01096:Tpp2
|
APN |
1 |
44,000,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01344:Tpp2
|
APN |
1 |
44,022,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01642:Tpp2
|
APN |
1 |
43,993,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02719:Tpp2
|
APN |
1 |
43,979,391 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02890:Tpp2
|
APN |
1 |
44,038,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Tpp2
|
APN |
1 |
43,995,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03175:Tpp2
|
APN |
1 |
44,012,671 (GRCm39) |
missense |
probably benign |
0.35 |
|
beaver
|
UTSW |
1 |
44,010,875 (GRCm39) |
missense |
probably benign |
0.08 |
|
billingsly
|
UTSW |
1 |
44,022,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cleaver
|
UTSW |
1 |
44,017,668 (GRCm39) |
nonsense |
probably null |
|
|
dow
|
UTSW |
1 |
44,009,552 (GRCm39) |
splice site |
probably benign |
|
|
Eddie
|
UTSW |
1 |
44,008,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jerry
|
UTSW |
1 |
44,017,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
June
|
UTSW |
1 |
43,993,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
landers
|
UTSW |
1 |
44,016,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mathers
|
UTSW |
1 |
44,031,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
recurrentis
|
UTSW |
1 |
44,031,553 (GRCm39) |
missense |
probably null |
0.29 |
|
state
|
UTSW |
1 |
44,017,598 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
wally
|
UTSW |
1 |
44,031,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
Ward
|
UTSW |
1 |
43,993,896 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
wilson
|
UTSW |
1 |
44,011,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB010:Tpp2
|
UTSW |
1 |
44,000,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Tpp2
|
UTSW |
1 |
44,000,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Tpp2
|
UTSW |
1 |
44,010,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0003:Tpp2
|
UTSW |
1 |
43,999,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0066:Tpp2
|
UTSW |
1 |
44,020,908 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0110:Tpp2
|
UTSW |
1 |
44,017,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0110:Tpp2
|
UTSW |
1 |
44,038,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0167:Tpp2
|
UTSW |
1 |
44,009,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0441:Tpp2
|
UTSW |
1 |
44,029,722 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0520:Tpp2
|
UTSW |
1 |
44,029,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Tpp2
|
UTSW |
1 |
44,014,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1118:Tpp2
|
UTSW |
1 |
44,031,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1119:Tpp2
|
UTSW |
1 |
44,031,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1593:Tpp2
|
UTSW |
1 |
44,014,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1756:Tpp2
|
UTSW |
1 |
44,017,885 (GRCm39) |
splice site |
probably null |
|
|
R2066:Tpp2
|
UTSW |
1 |
44,017,598 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2171:Tpp2
|
UTSW |
1 |
43,996,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2378:Tpp2
|
UTSW |
1 |
44,038,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2394:Tpp2
|
UTSW |
1 |
44,022,346 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2507:Tpp2
|
UTSW |
1 |
44,040,609 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2879:Tpp2
|
UTSW |
1 |
44,010,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Tpp2
|
UTSW |
1 |
43,979,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4106:Tpp2
|
UTSW |
1 |
44,040,617 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4658:Tpp2
|
UTSW |
1 |
43,993,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Tpp2
|
UTSW |
1 |
44,010,875 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4963:Tpp2
|
UTSW |
1 |
44,031,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Tpp2
|
UTSW |
1 |
44,040,633 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5073:Tpp2
|
UTSW |
1 |
43,993,896 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6010:Tpp2
|
UTSW |
1 |
43,990,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6118:Tpp2
|
UTSW |
1 |
43,979,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Tpp2
|
UTSW |
1 |
43,995,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Tpp2
|
UTSW |
1 |
44,022,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6236:Tpp2
|
UTSW |
1 |
44,016,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6695:Tpp2
|
UTSW |
1 |
44,022,436 (GRCm39) |
missense |
probably benign |
|
|
R6845:Tpp2
|
UTSW |
1 |
44,017,668 (GRCm39) |
nonsense |
probably null |
|
|
R7054:Tpp2
|
UTSW |
1 |
44,022,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Tpp2
|
UTSW |
1 |
44,008,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Tpp2
|
UTSW |
1 |
44,008,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Tpp2
|
UTSW |
1 |
44,009,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7324:Tpp2
|
UTSW |
1 |
44,017,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Tpp2
|
UTSW |
1 |
44,024,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7454:Tpp2
|
UTSW |
1 |
43,993,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7496:Tpp2
|
UTSW |
1 |
44,022,677 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7699:Tpp2
|
UTSW |
1 |
44,009,626 (GRCm39) |
missense |
probably benign |
|
|
R7700:Tpp2
|
UTSW |
1 |
44,009,626 (GRCm39) |
missense |
probably benign |
|
|
R7804:Tpp2
|
UTSW |
1 |
44,022,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7933:Tpp2
|
UTSW |
1 |
44,000,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7979:Tpp2
|
UTSW |
1 |
43,979,297 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8032:Tpp2
|
UTSW |
1 |
44,014,628 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8101:Tpp2
|
UTSW |
1 |
44,009,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Tpp2
|
UTSW |
1 |
44,022,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Tpp2
|
UTSW |
1 |
43,973,387 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8518:Tpp2
|
UTSW |
1 |
44,019,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Tpp2
|
UTSW |
1 |
44,016,365 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8529:Tpp2
|
UTSW |
1 |
44,022,300 (GRCm39) |
missense |
probably benign |
|
|
R8756:Tpp2
|
UTSW |
1 |
43,999,295 (GRCm39) |
nonsense |
probably null |
|
|
R8765:Tpp2
|
UTSW |
1 |
44,011,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8773:Tpp2
|
UTSW |
1 |
44,009,552 (GRCm39) |
splice site |
probably benign |
|
|
R8915:Tpp2
|
UTSW |
1 |
44,016,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Tpp2
|
UTSW |
1 |
43,992,502 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9090:Tpp2
|
UTSW |
1 |
43,993,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Tpp2
|
UTSW |
1 |
44,031,553 (GRCm39) |
missense |
probably null |
0.29 |
|
R9214:Tpp2
|
UTSW |
1 |
44,031,514 (GRCm39) |
missense |
probably benign |
|
|
R9271:Tpp2
|
UTSW |
1 |
43,993,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9316:Tpp2
|
UTSW |
1 |
44,017,604 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9371:Tpp2
|
UTSW |
1 |
43,999,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Tpp2
|
UTSW |
1 |
44,017,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9488:Tpp2
|
UTSW |
1 |
44,041,272 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9513:Tpp2
|
UTSW |
1 |
44,017,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9514:Tpp2
|
UTSW |
1 |
44,017,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9516:Tpp2
|
UTSW |
1 |
44,017,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATTCAGGCAGGCACAATCCATGT -3'
(R):5'- GCTGAGCACTTTTGATGGAGGGAGA -3'
Sequencing Primer
(F):5'- CAATCCATGTTACAAAACTCTTAGC -3'
(R):5'- TTTAGGCTGGACCTAAGCCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation