Incidental Mutation 'IGL02192:Tll2'
ID |
283893 |
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 # |
IGL02192
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41074702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 937
(Y937C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
AlphaFold |
Q9WVM6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025986
AA Change: Y954C
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025986 Gene: ENSMUSG00000025013 AA Change: Y954C
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: Y937C
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125973 Gene: ENSMUSG00000025013 AA Change: Y937C
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,597,825 (GRCm39) |
M545K |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
Anxa13 |
A |
T |
15: 58,220,628 (GRCm39) |
|
noncoding transcript |
Het |
Ap2b1 |
C |
T |
11: 83,237,592 (GRCm39) |
T552I |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,125,325 (GRCm39) |
S388G |
probably damaging |
Het |
Cdh18 |
A |
T |
15: 23,460,402 (GRCm39) |
D544V |
probably damaging |
Het |
Chat |
T |
C |
14: 32,145,279 (GRCm39) |
R377G |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,225,798 (GRCm39) |
T154A |
unknown |
Het |
Col9a1 |
C |
T |
1: 24,261,068 (GRCm39) |
P311S |
probably damaging |
Het |
Cpsf3 |
G |
T |
12: 21,360,194 (GRCm39) |
|
probably benign |
Het |
Cpsf3 |
G |
T |
12: 21,360,197 (GRCm39) |
|
probably null |
Het |
Dock8 |
T |
C |
19: 25,055,569 (GRCm39) |
|
probably null |
Het |
Eml6 |
A |
G |
11: 29,755,743 (GRCm39) |
I837T |
probably benign |
Het |
Epb41 |
T |
C |
4: 131,657,028 (GRCm39) |
T792A |
probably damaging |
Het |
Exph5 |
A |
T |
9: 53,287,625 (GRCm39) |
R1569* |
probably null |
Het |
F13b |
A |
T |
1: 139,445,071 (GRCm39) |
T574S |
probably damaging |
Het |
Fam184b |
G |
T |
5: 45,695,062 (GRCm39) |
D727E |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,580,633 (GRCm39) |
L524P |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,189,415 (GRCm39) |
L619P |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,754 (GRCm39) |
I66V |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,712 (GRCm39) |
D426G |
possibly damaging |
Het |
Gm3371 |
A |
T |
14: 44,641,235 (GRCm39) |
|
probably benign |
Het |
Hnf1a |
A |
T |
5: 115,098,177 (GRCm39) |
S142T |
probably damaging |
Het |
Itgb3 |
A |
G |
11: 104,534,765 (GRCm39) |
I541V |
probably benign |
Het |
Itgbl1 |
G |
T |
14: 124,081,338 (GRCm39) |
C239F |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Larp1b |
G |
T |
3: 40,921,929 (GRCm39) |
S116I |
probably benign |
Het |
Lmtk3 |
A |
G |
7: 45,443,933 (GRCm39) |
|
probably benign |
Het |
Mapk10 |
T |
C |
5: 103,137,513 (GRCm39) |
I235V |
probably damaging |
Het |
Mctp1 |
C |
T |
13: 76,879,887 (GRCm39) |
|
probably benign |
Het |
Megf8 |
G |
A |
7: 25,053,285 (GRCm39) |
D1819N |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,217,717 (GRCm39) |
T2254A |
possibly damaging |
Het |
Nbr1 |
T |
A |
11: 101,460,417 (GRCm39) |
S444T |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,101,301 (GRCm39) |
D1956E |
probably damaging |
Het |
Ndufaf5 |
T |
C |
2: 140,030,663 (GRCm39) |
V183A |
probably benign |
Het |
Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,133,998 (GRCm39) |
H265L |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,417 (GRCm39) |
L225H |
probably damaging |
Het |
Or8k16 |
G |
A |
2: 85,520,472 (GRCm39) |
G233D |
possibly damaging |
Het |
Pop1 |
A |
G |
15: 34,529,217 (GRCm39) |
E749G |
probably benign |
Het |
Ppil3 |
T |
C |
1: 58,477,547 (GRCm39) |
I66V |
probably damaging |
Het |
Prl4a1 |
C |
A |
13: 28,202,554 (GRCm39) |
T43K |
possibly damaging |
Het |
Prop1 |
A |
G |
11: 50,844,113 (GRCm39) |
|
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,761,010 (GRCm39) |
I218N |
probably damaging |
Het |
Rbm22 |
T |
A |
18: 60,697,484 (GRCm39) |
M63K |
possibly damaging |
Het |
Rictor |
T |
C |
15: 6,815,895 (GRCm39) |
S1056P |
probably benign |
Het |
Rps6kb2 |
T |
C |
19: 4,207,587 (GRCm39) |
T388A |
probably damaging |
Het |
Slc7a5 |
A |
G |
8: 122,613,129 (GRCm39) |
|
probably benign |
Het |
Sp100 |
A |
T |
1: 85,635,722 (GRCm39) |
D509V |
probably damaging |
Het |
Spata18 |
G |
T |
5: 73,829,861 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
A |
6: 48,436,502 (GRCm39) |
T1254K |
possibly damaging |
Het |
Stk19 |
A |
G |
17: 35,051,134 (GRCm39) |
|
probably benign |
Het |
Taar8b |
T |
A |
10: 23,967,262 (GRCm39) |
I311F |
probably damaging |
Het |
Themis2 |
C |
A |
4: 132,510,658 (GRCm39) |
|
probably null |
Het |
Trim34a |
T |
A |
7: 103,896,939 (GRCm39) |
M1K |
probably null |
Het |
Usp50 |
G |
A |
2: 126,619,958 (GRCm39) |
T118I |
possibly damaging |
Het |
Vps13d |
G |
A |
4: 144,875,428 (GRCm39) |
S1693F |
probably benign |
Het |
Vps16 |
T |
A |
2: 130,282,852 (GRCm39) |
I467N |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
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 |