Incidental Mutation 'IGL02146:Tll2'
ID |
281789 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tll2
|
Ensembl Gene |
ENSMUSG00000025013 |
Gene Name |
tolloid-like 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.787)
|
Stock # |
IGL02146
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 41086276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 651
(V651L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
AlphaFold |
Q9WVM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025986
AA Change: V651L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025986 Gene: ENSMUSG00000025013 AA Change: V651L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
ZnMc
|
152 |
294 |
1.15e-54 |
SMART |
CUB
|
348 |
460 |
7.69e-44 |
SMART |
CUB
|
461 |
573 |
8.69e-52 |
SMART |
EGF_CA
|
573 |
614 |
1.26e-11 |
SMART |
CUB
|
617 |
729 |
3.99e-51 |
SMART |
EGF_CA
|
729 |
769 |
5.92e-8 |
SMART |
CUB
|
773 |
885 |
3.08e-43 |
SMART |
CUB
|
886 |
1002 |
2.25e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169941
AA Change: V634L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125973 Gene: ENSMUSG00000025013 AA Change: V634L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
ZnMc
|
152 |
294 |
1.15e-54 |
SMART |
CUB
|
331 |
443 |
7.69e-44 |
SMART |
CUB
|
444 |
556 |
8.69e-52 |
SMART |
EGF_CA
|
556 |
597 |
1.26e-11 |
SMART |
CUB
|
600 |
712 |
3.99e-51 |
SMART |
EGF_CA
|
712 |
752 |
5.92e-8 |
SMART |
CUB
|
756 |
868 |
3.08e-43 |
SMART |
CUB
|
869 |
985 |
2.25e-36 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in increased muscle weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,023 (GRCm39) |
C784R |
possibly damaging |
Het |
Akp3 |
A |
T |
1: 87,054,297 (GRCm39) |
D278V |
probably benign |
Het |
Atxn7l1 |
G |
T |
12: 33,418,030 (GRCm39) |
R730S |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,355,191 (GRCm39) |
T30A |
probably damaging |
Het |
Blk |
G |
T |
14: 63,611,648 (GRCm39) |
P429H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,212,689 (GRCm39) |
M524K |
unknown |
Het |
Bst1 |
T |
A |
5: 43,983,678 (GRCm39) |
H221Q |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,693,576 (GRCm39) |
I419T |
possibly damaging |
Het |
Cnep1r1 |
T |
C |
8: 88,856,326 (GRCm39) |
V34A |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,661,414 (GRCm39) |
E308G |
probably damaging |
Het |
Cyp20a1 |
A |
T |
1: 60,410,410 (GRCm39) |
K237I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,252,429 (GRCm39) |
T104A |
probably damaging |
Het |
Dnaaf11 |
C |
T |
15: 66,361,374 (GRCm39) |
W42* |
probably null |
Het |
Dnaaf11 |
C |
A |
15: 66,361,375 (GRCm39) |
W42L |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,818,526 (GRCm39) |
V3271M |
probably damaging |
Het |
Eed |
T |
A |
7: 89,618,803 (GRCm39) |
N204Y |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,910,878 (GRCm39) |
V1708A |
probably benign |
Het |
Fcrl6 |
T |
C |
1: 172,426,264 (GRCm39) |
T178A |
probably benign |
Het |
Galnt4 |
A |
C |
10: 98,945,563 (GRCm39) |
K429N |
possibly damaging |
Het |
Ints6 |
T |
A |
14: 62,996,709 (GRCm39) |
T94S |
possibly damaging |
Het |
Iqsec3 |
A |
T |
6: 121,360,916 (GRCm39) |
S981T |
probably damaging |
Het |
Itga9 |
T |
A |
9: 118,663,400 (GRCm39) |
S146T |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,336,249 (GRCm39) |
Y2325C |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,582 (GRCm39) |
Q539L |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,444,371 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
C |
2: 121,129,927 (GRCm39) |
Y248H |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,318,879 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
T |
5: 112,991,151 (GRCm39) |
M942K |
probably damaging |
Het |
Myzap |
T |
A |
9: 71,471,730 (GRCm39) |
T94S |
probably benign |
Het |
Nebl |
C |
A |
2: 17,353,679 (GRCm39) |
R957S |
probably damaging |
Het |
Nexn |
A |
T |
3: 151,952,885 (GRCm39) |
D278E |
probably benign |
Het |
Nlgn1 |
A |
T |
3: 25,966,846 (GRCm39) |
N222K |
probably damaging |
Het |
Or6c76 |
T |
A |
10: 129,612,727 (GRCm39) |
|
probably benign |
Het |
Or8d1 |
G |
A |
9: 38,766,654 (GRCm39) |
A99T |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,380,094 (GRCm39) |
R79S |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,763,771 (GRCm39) |
I1268M |
probably benign |
Het |
Pkd2 |
G |
T |
5: 104,637,157 (GRCm39) |
R590L |
probably damaging |
Het |
Reg2 |
G |
A |
6: 78,382,568 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,662,934 (GRCm39) |
D26E |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,329,981 (GRCm39) |
I253T |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,299,169 (GRCm39) |
N443D |
probably damaging |
Het |
Slc6a12 |
A |
T |
6: 121,330,460 (GRCm39) |
T155S |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,125,675 (GRCm39) |
K118R |
possibly damaging |
Het |
Snap23 |
T |
G |
2: 120,429,792 (GRCm39) |
N212K |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,151,078 (GRCm39) |
D346E |
probably benign |
Het |
Sumf1 |
C |
A |
6: 108,150,392 (GRCm39) |
|
probably null |
Het |
Susd2 |
T |
C |
10: 75,474,267 (GRCm39) |
N479S |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,646,569 (GRCm39) |
I821T |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,012,104 (GRCm39) |
D655G |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,170 (GRCm39) |
Y798C |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,646,479 (GRCm39) |
I1528L |
probably benign |
Het |
Wdtc1 |
G |
A |
4: 133,029,076 (GRCm39) |
L337F |
probably benign |
Het |
Zfp128 |
A |
C |
7: 12,623,959 (GRCm39) |
K109T |
possibly damaging |
Het |
|
Other mutations in Tll2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01555:Tll2
|
APN |
19 |
41,074,805 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02028:Tll2
|
APN |
19 |
41,087,088 (GRCm39) |
nonsense |
probably null |
|
IGL02192:Tll2
|
APN |
19 |
41,074,702 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02544:Tll2
|
APN |
19 |
41,124,404 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4677001:Tll2
|
UTSW |
19 |
41,118,997 (GRCm39) |
missense |
probably benign |
0.14 |
R0141:Tll2
|
UTSW |
19 |
41,086,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Tll2
|
UTSW |
19 |
41,171,752 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0393:Tll2
|
UTSW |
19 |
41,077,265 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0402:Tll2
|
UTSW |
19 |
41,087,132 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0613:Tll2
|
UTSW |
19 |
41,093,429 (GRCm39) |
missense |
probably damaging |
0.97 |
R0756:Tll2
|
UTSW |
19 |
41,108,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0757:Tll2
|
UTSW |
19 |
41,108,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0790:Tll2
|
UTSW |
19 |
41,092,289 (GRCm39) |
missense |
probably damaging |
0.98 |
R0834:Tll2
|
UTSW |
19 |
41,101,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R0843:Tll2
|
UTSW |
19 |
41,116,902 (GRCm39) |
splice site |
probably null |
|
R1014:Tll2
|
UTSW |
19 |
41,092,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Tll2
|
UTSW |
19 |
41,081,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1233:Tll2
|
UTSW |
19 |
41,084,423 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1364:Tll2
|
UTSW |
19 |
41,108,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Tll2
|
UTSW |
19 |
41,108,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1368:Tll2
|
UTSW |
19 |
41,108,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:Tll2
|
UTSW |
19 |
41,074,839 (GRCm39) |
missense |
probably benign |
0.17 |
R1894:Tll2
|
UTSW |
19 |
41,077,110 (GRCm39) |
critical splice donor site |
probably null |
|
R1896:Tll2
|
UTSW |
19 |
41,101,498 (GRCm39) |
missense |
probably benign |
0.44 |
R1917:Tll2
|
UTSW |
19 |
41,116,936 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2170:Tll2
|
UTSW |
19 |
41,171,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Tll2
|
UTSW |
19 |
41,109,787 (GRCm39) |
missense |
probably benign |
0.03 |
R4617:Tll2
|
UTSW |
19 |
41,087,075 (GRCm39) |
missense |
probably benign |
0.31 |
R4831:Tll2
|
UTSW |
19 |
41,118,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Tll2
|
UTSW |
19 |
41,105,705 (GRCm39) |
missense |
probably benign |
0.02 |
R5119:Tll2
|
UTSW |
19 |
41,118,948 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5194:Tll2
|
UTSW |
19 |
41,084,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5280:Tll2
|
UTSW |
19 |
41,105,696 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5602:Tll2
|
UTSW |
19 |
41,093,420 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5800:Tll2
|
UTSW |
19 |
41,093,373 (GRCm39) |
missense |
probably benign |
0.10 |
R6223:Tll2
|
UTSW |
19 |
41,124,391 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7047:Tll2
|
UTSW |
19 |
41,074,679 (GRCm39) |
missense |
probably damaging |
0.99 |
R7155:Tll2
|
UTSW |
19 |
41,105,723 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7213:Tll2
|
UTSW |
19 |
41,108,666 (GRCm39) |
missense |
probably damaging |
0.97 |
R7231:Tll2
|
UTSW |
19 |
41,074,673 (GRCm39) |
missense |
probably benign |
0.02 |
R7390:Tll2
|
UTSW |
19 |
41,108,608 (GRCm39) |
critical splice donor site |
probably null |
|
R7414:Tll2
|
UTSW |
19 |
41,092,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R7757:Tll2
|
UTSW |
19 |
41,084,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Tll2
|
UTSW |
19 |
41,077,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8418:Tll2
|
UTSW |
19 |
41,081,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R8788:Tll2
|
UTSW |
19 |
41,109,814 (GRCm39) |
missense |
probably benign |
0.00 |
R8811:Tll2
|
UTSW |
19 |
41,195,012 (GRCm39) |
missense |
probably benign |
|
R9227:Tll2
|
UTSW |
19 |
41,093,436 (GRCm39) |
missense |
probably benign |
0.34 |
R9230:Tll2
|
UTSW |
19 |
41,093,436 (GRCm39) |
missense |
probably benign |
0.34 |
R9280:Tll2
|
UTSW |
19 |
41,077,309 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9282:Tll2
|
UTSW |
19 |
41,074,772 (GRCm39) |
missense |
probably benign |
|
R9382:Tll2
|
UTSW |
19 |
41,116,997 (GRCm39) |
missense |
probably benign |
0.04 |
R9715:Tll2
|
UTSW |
19 |
41,092,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R9760:Tll2
|
UTSW |
19 |
41,119,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R9801:Tll2
|
UTSW |
19 |
41,194,993 (GRCm39) |
missense |
probably benign |
|
X0027:Tll2
|
UTSW |
19 |
41,171,742 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tll2
|
UTSW |
19 |
41,081,173 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2015-04-16 |