Incidental Mutation 'R0393:Tll2'
| ID |
31827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll2
|
| Ensembl Gene |
ENSMUSG00000025013 |
| Gene Name |
tolloid-like 2 |
| Synonyms |
|
| MMRRC Submission |
038599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R0393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41077265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 834
(Y834H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
| AlphaFold |
Q9WVM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025986
AA Change: Y834H
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: Y834H
| 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 |
possibly damaging
Transcript: ENSMUST00000169941
AA Change: Y817H
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: Y817H
| 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 |
|
| Meta Mutation Damage Score |
0.2877 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,591,604 (GRCm39) |
|
probably benign |
Het |
| Akr1b7 |
T |
G |
6: 34,392,335 (GRCm39) |
Y49* |
probably null |
Het |
| Ankrd10 |
G |
T |
8: 11,685,482 (GRCm39) |
R46S |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,085,681 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,965,221 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
T |
13: 49,533,346 (GRCm39) |
T644M |
probably damaging |
Het |
| Ccr9 |
A |
T |
9: 123,609,035 (GRCm39) |
H239L |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,408 (GRCm39) |
N485Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,919,400 (GRCm39) |
S131C |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,076 (GRCm39) |
S116R |
probably benign |
Het |
| Crym |
T |
C |
7: 119,788,972 (GRCm39) |
K285R |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,293 (GRCm39) |
I359F |
possibly damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,359 (GRCm39) |
|
probably benign |
Het |
| Dcpp3 |
A |
T |
17: 24,136,925 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,364 (GRCm39) |
I1340K |
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,111,277 (GRCm39) |
C144R |
probably damaging |
Het |
| Gm1553 |
T |
C |
10: 82,328,010 (GRCm39) |
R66G |
unknown |
Het |
| Il10rb |
G |
A |
16: 91,208,898 (GRCm39) |
V103I |
probably benign |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,614 (GRCm39) |
W182R |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,944,315 (GRCm39) |
S193P |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,410,156 (GRCm39) |
H628Y |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,941,079 (GRCm39) |
L77P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,940 (GRCm39) |
A211T |
possibly damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,137,892 (GRCm39) |
T743A |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,821,664 (GRCm39) |
T1346M |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,384 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
C |
10: 75,695,638 (GRCm39) |
D55G |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,361 (GRCm39) |
C608* |
probably null |
Het |
| Mlip |
A |
T |
9: 77,146,859 (GRCm39) |
C85S |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,826,809 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mybl2 |
T |
A |
2: 162,903,528 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
C |
T |
11: 67,196,843 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
A |
G |
19: 60,745,368 (GRCm39) |
Y222C |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,044,037 (GRCm39) |
Y267F |
probably benign |
Het |
| Or2n1e |
G |
T |
17: 38,585,774 (GRCm39) |
M37I |
probably benign |
Het |
| Or5d16 |
T |
C |
2: 87,773,909 (GRCm39) |
D21G |
possibly damaging |
Het |
| Papolb |
A |
G |
5: 142,515,211 (GRCm39) |
V144A |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,003,298 (GRCm39) |
L509Q |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,802,122 (GRCm39) |
M290I |
probably benign |
Het |
| Ralb |
G |
C |
1: 119,405,856 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
T |
C |
10: 121,931,841 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,672,519 (GRCm39) |
D18E |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,400,568 (GRCm39) |
H2576P |
possibly damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,349 (GRCm39) |
D241G |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,175,040 (GRCm39) |
V165E |
probably benign |
Het |
| Thbs1 |
T |
A |
2: 117,943,472 (GRCm39) |
V30E |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,756,008 (GRCm39) |
D84N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,737,427 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,171 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,242 (GRCm39) |
Y181H |
possibly damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,395 (GRCm39) |
T679A |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,712 (GRCm39) |
Y110F |
probably damaging |
Het |
| Zbtb40 |
A |
C |
4: 136,745,842 (GRCm39) |
S64A |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,131,252 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02146:Tll2
|
APN |
19 |
41,086,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGCTGAAGAACGCTCCTTTTAAC -3'
(R):5'- ATGTCGGACCATCACGGCAATG -3'
Sequencing Primer
(F):5'- ACGCTCCTTTTAACCGGGATG -3'
(R):5'- CATCACGGCAATGGTGGAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation