Incidental Mutation 'R0372:Tll2'
| ID |
30568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll2
|
| Ensembl Gene |
ENSMUSG00000025013 |
| Gene Name |
tolloid-like 2 |
| Synonyms |
|
| MMRRC Submission |
038578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.759)
|
| Stock # |
R0372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 41171752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000025986]
[ENSMUST00000169941]
[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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
A |
14: 64,210,931 (GRCm39) |
Q99L |
probably damaging |
Het |
| Abca2 |
A |
G |
2: 25,327,365 (GRCm39) |
Y641C |
probably damaging |
Het |
| Abhd10 |
A |
G |
16: 45,557,254 (GRCm39) |
|
probably null |
Het |
| Acan |
G |
T |
7: 78,750,349 (GRCm39) |
A1707S |
probably benign |
Het |
| Ankrd61 |
T |
A |
5: 143,827,993 (GRCm39) |
R284S |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,559,401 (GRCm39) |
K258E |
probably damaging |
Het |
| Arl6ip6 |
T |
G |
2: 53,092,933 (GRCm39) |
F153V |
probably damaging |
Het |
| Atp2c2 |
C |
A |
8: 120,484,180 (GRCm39) |
F930L |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,703,309 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,159 (GRCm39) |
S16G |
probably damaging |
Het |
| Axin2 |
T |
A |
11: 108,814,936 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,656,981 (GRCm39) |
D282E |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,201 (GRCm39) |
V191D |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,725,957 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,607,552 (GRCm39) |
C367S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,091 (GRCm39) |
V472M |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,479,817 (GRCm39) |
I8N |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,935,712 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,756,629 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
C |
T |
19: 46,274,143 (GRCm39) |
P1726S |
probably benign |
Het |
| Hal |
A |
G |
10: 93,343,415 (GRCm39) |
|
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,939,766 (GRCm39) |
I671V |
possibly damaging |
Het |
| Ifnab |
A |
G |
4: 88,609,071 (GRCm39) |
S132P |
probably benign |
Het |
| Ing5 |
T |
C |
1: 93,740,142 (GRCm39) |
I70T |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,758,193 (GRCm39) |
N228S |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,458,185 (GRCm39) |
I523F |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,565 (GRCm39) |
F328S |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,316,950 (GRCm39) |
I34F |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,348 (GRCm39) |
I491N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,155,489 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,428,005 (GRCm39) |
P523T |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,620,810 (GRCm39) |
D3556V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,365,387 (GRCm39) |
H262L |
probably benign |
Het |
| Lrrc27 |
T |
A |
7: 138,806,103 (GRCm39) |
I256K |
probably benign |
Het |
| Lrrc47 |
G |
A |
4: 154,104,089 (GRCm39) |
R523K |
probably benign |
Het |
| Lrrc71 |
A |
T |
3: 87,653,084 (GRCm39) |
S111T |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
| Mphosph10 |
G |
T |
7: 64,038,603 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,148,657 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
A |
T |
5: 34,048,895 (GRCm39) |
M1140L |
probably damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,661,155 (GRCm39) |
M440T |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,259 (GRCm39) |
L424Q |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,450 (GRCm39) |
V134A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,785,097 (GRCm39) |
F410L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,932 (GRCm39) |
E82G |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,439 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,142,787 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
G |
A |
6: 54,593,743 (GRCm39) |
|
probably null |
Het |
| Ppbp |
C |
T |
5: 90,917,202 (GRCm39) |
T93M |
possibly damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,994,891 (GRCm39) |
T810M |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,872 (GRCm39) |
N418S |
possibly damaging |
Het |
| Rnf20 |
C |
G |
4: 49,650,176 (GRCm39) |
R582G |
possibly damaging |
Het |
| Serpine2 |
T |
C |
1: 79,799,147 (GRCm39) |
I36V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,529 (GRCm39) |
V175E |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,213,673 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spg11 |
GCC |
G |
2: 121,889,928 (GRCm39) |
|
probably null |
Het |
| Tecrl |
C |
T |
5: 83,442,506 (GRCm39) |
C189Y |
probably damaging |
Het |
| Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
| Thnsl2 |
T |
C |
6: 71,116,774 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ubqln4 |
C |
T |
3: 88,463,276 (GRCm39) |
S147L |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,117 (GRCm39) |
C17S |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,026,417 (GRCm39) |
Q505L |
probably benign |
Het |
| Zfp386 |
T |
C |
12: 116,018,436 (GRCm39) |
M35T |
possibly damaging |
Het |
| Zfp777 |
T |
C |
6: 48,021,410 (GRCm39) |
M71V |
possibly damaging |
Het |
| Zfp938 |
A |
T |
10: 82,063,662 (GRCm39) |
L34Q |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,620,120 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAGCCTTCAAACATCCCACTG -3'
(R):5'- GCCATCTCTACATGATGGATTGCCC -3'
Sequencing Primer
(F):5'- CACTGGGACCCAAGCATATGAG -3'
(R):5'- GGGTATCTATAAGCCAAGCCTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation