Incidental Mutation 'R9801:Tll2'
| ID |
735239 |
| 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 # |
R9801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41194993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 31
(V31A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000025989]
[ENSMUST00000169941]
|
| AlphaFold |
Q9WVM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025986
AA Change: V31A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: V31A
| 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 benign
Transcript: ENSMUST00000025989
|
| SMART Domains |
Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
55 |
544 |
6.2e-164 |
PFAM |
|
transmembrane domain
|
549 |
571 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169941
AA Change: V31A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: V31A
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,945,540 (GRCm39) |
N330K |
probably benign |
Het |
| 4933402J07Rik |
A |
G |
8: 88,290,717 (GRCm39) |
E25G |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,881,091 (GRCm39) |
T297A |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,227,033 (GRCm39) |
E562G |
possibly damaging |
Het |
| Atg12 |
T |
C |
18: 46,874,460 (GRCm39) |
T52A |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,418 (GRCm39) |
T260S |
probably benign |
Het |
| Btbd3 |
C |
T |
2: 138,122,368 (GRCm39) |
R173* |
probably null |
Het |
| Cbr1 |
A |
C |
16: 93,406,687 (GRCm39) |
R134S |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,964,262 (GRCm39) |
I371F |
possibly damaging |
Het |
| Cntrob |
T |
C |
11: 69,212,233 (GRCm39) |
E124G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,421,024 (GRCm39) |
S2P |
possibly damaging |
Het |
| Ctbs |
T |
C |
3: 146,169,679 (GRCm39) |
V312A |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,228,466 (GRCm39) |
V179E |
probably null |
Het |
| Dip2c |
T |
C |
13: 9,626,936 (GRCm39) |
L658P |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,698,827 (GRCm39) |
I59T |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,782 (GRCm39) |
N133K |
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,610,310 (GRCm39) |
C93S |
probably damaging |
Het |
| Galr1 |
T |
C |
18: 82,423,912 (GRCm39) |
S122G |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,563,563 (GRCm39) |
V353M |
probably damaging |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,511 (GRCm39) |
N222K |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,205,477 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,290 (GRCm39) |
V320E |
probably damaging |
Het |
| Me3 |
A |
C |
7: 89,435,657 (GRCm39) |
D164A |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Nbr1 |
C |
A |
11: 101,447,025 (GRCm39) |
Q4K |
probably damaging |
Het |
| Nr1i3 |
T |
C |
1: 171,045,252 (GRCm39) |
L300P |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,874,287 (GRCm39) |
N101I |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,908,964 (GRCm39) |
E347* |
probably null |
Het |
| Plxna4 |
C |
T |
6: 32,140,526 (GRCm39) |
|
probably null |
Het |
| Polq |
C |
T |
16: 36,913,190 (GRCm39) |
R2420C |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,456,899 (GRCm39) |
Y261H |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,481,328 (GRCm39) |
S722L |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,822,229 (GRCm39) |
Y464H |
probably benign |
Het |
| Rnf145 |
T |
A |
11: 44,448,112 (GRCm39) |
I323N |
probably damaging |
Het |
| Rxylt1 |
T |
A |
10: 121,926,608 (GRCm39) |
N168I |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,580 (GRCm39) |
V40E |
probably damaging |
Het |
| Slmap |
G |
A |
14: 26,143,595 (GRCm39) |
A764V |
probably damaging |
Het |
| Smarca4 |
G |
T |
9: 21,586,397 (GRCm39) |
L1139F |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,062 (GRCm39) |
E113G |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,932,235 (GRCm39) |
S196P |
probably benign |
Het |
| Tcp10b |
A |
G |
17: 13,281,867 (GRCm39) |
E79G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,346,436 (GRCm39) |
N1334Y |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,045,263 (GRCm39) |
I475T |
probably benign |
Het |
| Uba3 |
T |
A |
6: 97,162,635 (GRCm39) |
D387V |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,937 (GRCm39) |
I279T |
possibly 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 |
|
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 |
|
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'- GTTTCCCGCAGACATTGTCC -3'
(R):5'- TACTGGGCTTGCTTGGTACC -3'
Sequencing Primer
(F):5'- ACATCTCTCAGGAGCGGAGTG -3'
(R):5'- TGGCAGCCAAGCAGCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation