Incidental Mutation 'R9280:Tll2'
| ID |
703593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll2
|
| Ensembl Gene |
ENSMUSG00000025013 |
| Gene Name |
tolloid-like 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R9280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41077309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 819
(E819V)
|
| 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: E819V
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: E819V
| 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 damaging
Transcript: ENSMUST00000169941
AA Change: E802V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: E802V
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
G |
T |
6: 125,039,938 (GRCm39) |
V514L |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,573 (GRCm39) |
I965M |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,818,021 (GRCm39) |
S1468C |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,116 (GRCm39) |
D652G |
possibly damaging |
Het |
| Apobec3 |
A |
C |
15: 79,791,082 (GRCm39) |
N392T |
|
Het |
| Ccdc33 |
A |
T |
9: 57,965,549 (GRCm39) |
M591K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,870,153 (GRCm39) |
E689G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,227 (GRCm39) |
M250K |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,975 (GRCm39) |
S344R |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,160,142 (GRCm39) |
Y57F |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,189,255 (GRCm39) |
I1540V |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,004,071 (GRCm39) |
Q3651H |
possibly damaging |
Het |
| Eif2a |
A |
G |
3: 58,447,009 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,511 (GRCm39) |
N331S |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,774 (GRCm39) |
P168S |
probably damaging |
Het |
| Fam76b |
A |
T |
9: 13,751,012 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,612 (GRCm39) |
E1356G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,201,523 (GRCm39) |
T517I |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,611 (GRCm39) |
C269R |
probably benign |
Het |
| Gm3404 |
C |
T |
5: 146,462,756 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,345,248 (GRCm39) |
F435S |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,295,490 (GRCm39) |
Y191N |
|
Het |
| Ide |
T |
C |
19: 37,307,801 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,420 (GRCm39) |
T90S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,410 (GRCm39) |
C311R |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,922 (GRCm39) |
E390G |
unknown |
Het |
| Ints1 |
C |
T |
5: 139,750,469 (GRCm39) |
C896Y |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,736 (GRCm39) |
E289G |
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,755,997 (GRCm39) |
R580W |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,099,445 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,579,812 (GRCm39) |
I429L |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,567,292 (GRCm39) |
D431G |
possibly damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,828 (GRCm39) |
T429A |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,539 (GRCm39) |
Y110N |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,135 (GRCm39) |
A1398T |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,973 (GRCm39) |
M358K |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,141,982 (GRCm39) |
L354R |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,458 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or5g25 |
G |
A |
2: 85,478,504 (GRCm39) |
R54* |
probably null |
Het |
| Or7e173 |
A |
C |
9: 19,938,639 (GRCm39) |
S198R |
probably benign |
Het |
| Otof |
A |
G |
5: 30,528,894 (GRCm39) |
F1838S |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,675,533 (GRCm39) |
T1071I |
possibly damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,794 (GRCm39) |
D342G |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,585 (GRCm39) |
L585P |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,114,505 (GRCm39) |
S469R |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,197,314 (GRCm39) |
F87L |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,145 (GRCm39) |
M152L |
probably benign |
Het |
| Rasa1 |
C |
T |
13: 85,436,732 (GRCm39) |
A99T |
unknown |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,132 (GRCm39) |
N760S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,669,898 (GRCm39) |
M232K |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,389 (GRCm39) |
H744Y |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,282,325 (GRCm39) |
S50P |
probably damaging |
Het |
| Slc25a36 |
A |
C |
9: 96,982,233 (GRCm39) |
L34R |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,401,003 (GRCm39) |
I127F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,939,978 (GRCm39) |
L175P |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,771 (GRCm39) |
T73A |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,680,268 (GRCm39) |
|
probably benign |
Het |
| Trappc13 |
C |
T |
13: 104,290,809 (GRCm39) |
A181T |
probably benign |
Het |
| Trbj1-1 |
A |
G |
6: 41,510,830 (GRCm39) |
R11G |
|
Het |
| Ubash3b |
A |
C |
9: 41,072,877 (GRCm39) |
I12S |
unknown |
Het |
| Usp37 |
T |
C |
1: 74,489,699 (GRCm39) |
K828E |
probably damaging |
Het |
| Usp8 |
G |
C |
2: 126,561,944 (GRCm39) |
S46T |
unknown |
Het |
| Zfp418 |
A |
G |
7: 7,184,408 (GRCm39) |
T124A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,803 (GRCm39) |
T92A |
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 |
|
|
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 |
|
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'- AACCGGGATGTTTGAGCGTG -3'
(R):5'- AGTAAATCCAGGCAGCTGG -3'
Sequencing Primer
(F):5'- ACAGCCTGGAAGCCTTTC -3'
(R):5'- AGCTGGCTCTGGGACTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation