Incidental Mutation 'R9230:Tll2'
ID |
700206 |
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: 0.759)
|
Stock # |
R9230 (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 41093436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 477
(Y477F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
AlphaFold |
Q9WVM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025986
AA Change: Y477F
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025986 Gene: ENSMUSG00000025013 AA Change: Y477F
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: Y460F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125973 Gene: ENSMUSG00000025013 AA Change: Y460F
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: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
A |
T |
10: 77,157,626 (GRCm39) |
F274I |
probably damaging |
Het |
Aen |
T |
A |
7: 78,552,107 (GRCm39) |
D22E |
probably damaging |
Het |
Appl1 |
T |
C |
14: 26,645,692 (GRCm39) |
E706G |
unknown |
Het |
Arhgap21 |
T |
C |
2: 20,860,469 (GRCm39) |
T1313A |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,989,459 (GRCm39) |
T2098A |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,599,856 (GRCm39) |
Y1659C |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,516,053 (GRCm39) |
I563T |
probably benign |
Het |
Cblif |
G |
A |
19: 11,737,748 (GRCm39) |
W386* |
probably null |
Het |
Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
Cd55b |
A |
T |
1: 130,350,619 (GRCm39) |
L26* |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,933,638 (GRCm39) |
N759S |
probably benign |
Het |
Chrm3 |
C |
A |
13: 9,928,479 (GRCm39) |
V186L |
probably benign |
Het |
Clrn2 |
A |
G |
5: 45,621,283 (GRCm39) |
T226A |
probably damaging |
Het |
Col3a1 |
C |
T |
1: 45,383,138 (GRCm39) |
P1071S |
unknown |
Het |
Csgalnact2 |
A |
G |
6: 118,103,212 (GRCm39) |
L250P |
probably damaging |
Het |
Cyp4a31 |
G |
T |
4: 115,428,281 (GRCm39) |
E326* |
probably null |
Het |
Def8 |
A |
G |
8: 124,186,317 (GRCm39) |
E352G |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,639,642 (GRCm39) |
D60G |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,807,223 (GRCm39) |
L1368P |
probably damaging |
Het |
Dytn |
A |
T |
1: 63,686,611 (GRCm39) |
V353D |
probably benign |
Het |
Egfem1 |
G |
A |
3: 29,411,317 (GRCm39) |
E155K |
probably benign |
Het |
Eif3m |
A |
T |
2: 104,831,705 (GRCm39) |
M285K |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,335,856 (GRCm39) |
K446R |
probably benign |
Het |
Fbxo22 |
T |
C |
9: 55,116,442 (GRCm39) |
L36P |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
Gja8 |
C |
T |
3: 96,826,664 (GRCm39) |
V333M |
possibly damaging |
Het |
Glis1 |
T |
C |
4: 107,425,327 (GRCm39) |
S313P |
probably benign |
Het |
Grid2ip |
G |
A |
5: 143,359,194 (GRCm39) |
R270Q |
probably damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hspa4 |
T |
C |
11: 53,171,466 (GRCm39) |
E246G |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,585,702 (GRCm39) |
|
probably null |
Het |
Ifit1 |
A |
G |
19: 34,625,236 (GRCm39) |
E124G |
possibly damaging |
Het |
Ifna14 |
T |
C |
4: 88,489,752 (GRCm39) |
D95G |
probably benign |
Het |
Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
Ilkap |
A |
C |
1: 91,314,937 (GRCm39) |
I142S |
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,520,439 (GRCm39) |
Y30* |
probably null |
Het |
Kctd14 |
C |
G |
7: 97,104,104 (GRCm39) |
P53R |
unknown |
Het |
Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
Krt1c |
A |
C |
15: 101,725,948 (GRCm39) |
S197A |
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,588,483 (GRCm39) |
S902R |
unknown |
Het |
Mapk13 |
T |
C |
17: 28,994,532 (GRCm39) |
I141T |
probably damaging |
Het |
Micall2 |
A |
G |
5: 139,701,827 (GRCm39) |
V472A |
unknown |
Het |
Mmp15 |
T |
C |
8: 96,092,959 (GRCm39) |
F113L |
probably benign |
Het |
Msantd5f6 |
C |
T |
4: 73,319,685 (GRCm39) |
A264T |
probably benign |
Het |
Msh2 |
T |
G |
17: 88,026,717 (GRCm39) |
S738A |
probably benign |
Het |
Muc20 |
T |
G |
16: 32,613,584 (GRCm39) |
T598P |
probably damaging |
Het |
Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
Ncf1 |
A |
T |
5: 134,250,718 (GRCm39) |
N367K |
probably benign |
Het |
Nme8 |
T |
G |
13: 19,874,384 (GRCm39) |
I139L |
probably benign |
Het |
Odam |
T |
C |
5: 88,034,457 (GRCm39) |
F46L |
probably benign |
Het |
Or51a25 |
C |
A |
7: 102,372,795 (GRCm39) |
V301F |
possibly damaging |
Het |
Or7a42 |
G |
A |
10: 78,791,929 (GRCm39) |
D297N |
possibly damaging |
Het |
Pcare |
A |
G |
17: 72,057,217 (GRCm39) |
L820P |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,099,788 (GRCm39) |
I1945T |
|
Het |
Rbmyf9 |
T |
G |
Y: 3,774,819 (GRCm39) |
D5E |
probably damaging |
Het |
Rell1 |
T |
C |
5: 64,097,105 (GRCm39) |
|
probably benign |
Het |
Ripk3 |
A |
G |
14: 56,023,303 (GRCm39) |
F134S |
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,665,631 (GRCm39) |
W146R |
probably benign |
Het |
Slc18a2 |
T |
C |
19: 59,261,647 (GRCm39) |
M178T |
probably benign |
Het |
Slc24a5 |
G |
T |
2: 124,922,568 (GRCm39) |
G110V |
probably damaging |
Het |
Slc38a10 |
T |
A |
11: 119,996,781 (GRCm39) |
D772V |
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,398,275 (GRCm39) |
L680P |
possibly damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnrc18 |
G |
T |
5: 142,773,392 (GRCm39) |
A479D |
|
Het |
Topaz1 |
T |
A |
9: 122,596,097 (GRCm39) |
M956K |
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,444,237 (GRCm39) |
D465V |
possibly damaging |
Het |
Xndc1 |
T |
A |
7: 101,722,476 (GRCm39) |
V47E |
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 |
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 |
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'- CAATCTGGCCTAAAACTCACTTTC -3'
(R):5'- GTAGCTACACGGTTATCCAGAG -3'
Sequencing Primer
(F):5'- GGCCTAAAACTCACTTTCCTCCTG -3'
(R):5'- TCAACTCTCTCAAGGCCCGG -3'
|
Posted On |
2022-02-07 |