Incidental Mutation 'R1894:Tll2'
| ID |
211845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll2
|
| Ensembl Gene |
ENSMUSG00000025013 |
| Gene Name |
tolloid-like 2 |
| Synonyms |
|
| MMRRC Submission |
039914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R1894 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 41077110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
| AlphaFold |
Q9WVM6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025986
|
| SMART Domains |
Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
| 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 null
Transcript: ENSMUST00000169941
|
| SMART Domains |
Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
| 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: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
C |
4: 129,907,419 (GRCm39) |
F977S |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,406,393 (GRCm39) |
Y306H |
probably benign |
Het |
| Cblc |
T |
C |
7: 19,526,502 (GRCm39) |
T196A |
probably damaging |
Het |
| Cfap52 |
T |
A |
11: 67,844,445 (GRCm39) |
|
probably null |
Het |
| Cops3 |
T |
C |
11: 59,710,844 (GRCm39) |
N375S |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,170,931 (GRCm39) |
T759A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,557 (GRCm39) |
K153E |
probably benign |
Het |
| Elovl1 |
C |
T |
4: 118,287,945 (GRCm39) |
S27F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,863,185 (GRCm39) |
E804G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,798,840 (GRCm39) |
C86F |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,236,541 (GRCm39) |
R380W |
probably damaging |
Het |
| Gatad2a |
C |
T |
8: 70,369,301 (GRCm39) |
R221Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,174 (GRCm39) |
P677L |
probably damaging |
Het |
| Gm6020 |
C |
T |
19: 61,172,391 (GRCm39) |
H22Y |
possibly damaging |
Het |
| Gm9817 |
T |
C |
13: 45,232,605 (GRCm39) |
V136A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,273,622 (GRCm39) |
L971H |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,254,989 (GRCm39) |
E192K |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,568 (GRCm39) |
V660I |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,082 (GRCm39) |
P1471S |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,743 (GRCm39) |
G3786S |
probably damaging |
Het |
| Isg20 |
T |
C |
7: 78,569,647 (GRCm39) |
V206A |
probably benign |
Het |
| Jund |
T |
A |
8: 71,152,470 (GRCm39) |
I255N |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,353,079 (GRCm39) |
I263F |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,019,420 (GRCm39) |
L561Q |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,189 (GRCm39) |
D546G |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,054 (GRCm39) |
Q24L |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,735 (GRCm39) |
C225S |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,728,312 (GRCm39) |
H55R |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,242 (GRCm39) |
R86* |
probably null |
Het |
| Mfsd2b |
T |
C |
12: 4,919,155 (GRCm39) |
E63G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,777,899 (GRCm39) |
G1049S |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,326,064 (GRCm39) |
V1169E |
probably benign |
Het |
| Nr2f2 |
T |
A |
7: 70,004,419 (GRCm39) |
M411L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,886,392 (GRCm39) |
T585S |
possibly damaging |
Het |
| Or5m13 |
C |
T |
2: 85,748,599 (GRCm39) |
T110I |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,943 (GRCm39) |
C125* |
probably null |
Het |
| Or7e177 |
T |
C |
9: 20,211,633 (GRCm39) |
S47P |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,807,165 (GRCm39) |
I166N |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,366,263 (GRCm39) |
F181L |
probably benign |
Het |
| Prx |
C |
T |
7: 27,218,535 (GRCm39) |
T1012I |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,754,199 (GRCm39) |
V5E |
probably damaging |
Het |
| Rassf9 |
C |
A |
10: 102,380,755 (GRCm39) |
R44S |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,592,301 (GRCm39) |
I157F |
probably benign |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,380,545 (GRCm39) |
M372K |
possibly damaging |
Het |
| Sgcd |
A |
T |
11: 47,085,937 (GRCm39) |
I71N |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,942,483 (GRCm39) |
C721Y |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,910,038 (GRCm39) |
K344N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,782,713 (GRCm39) |
Q1076L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,838,692 (GRCm39) |
N581I |
possibly damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,875,936 (GRCm39) |
P533H |
probably benign |
Het |
| Spice1 |
T |
G |
16: 44,185,989 (GRCm39) |
S111A |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,365,274 (GRCm39) |
F61V |
probably damaging |
Het |
| Timp3 |
C |
T |
10: 86,181,716 (GRCm39) |
R196* |
probably null |
Het |
| Tppp |
A |
G |
13: 74,169,326 (GRCm39) |
D22G |
possibly damaging |
Het |
| Trim24 |
G |
T |
6: 37,934,013 (GRCm39) |
R652L |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,777,718 (GRCm39) |
S702P |
possibly damaging |
Het |
| Uggt2 |
T |
C |
14: 119,287,130 (GRCm39) |
E146G |
probably damaging |
Het |
| Vmn1r233 |
T |
C |
17: 21,213,994 (GRCm39) |
S319G |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,530,692 (GRCm39) |
Q395L |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,989,319 (GRCm39) |
|
probably null |
Het |
| Zfp420 |
A |
T |
7: 29,573,933 (GRCm39) |
H51L |
probably 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 |
|
|
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 |
|
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'- TTTGCACTTCACAGGCCAGC -3'
(R):5'- ACCTGGAACTGTACGATGGG -3'
Sequencing Primer
(F):5'- CTTCACAGGCCAGCAAAATG -3'
(R):5'- TGGGACAGACAGCTTGGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation