Incidental Mutation 'R4433:Tll2'
| ID |
328727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll2
|
| Ensembl Gene |
ENSMUSG00000025013 |
| Gene Name |
tolloid-like 2 |
| Synonyms |
|
| MMRRC Submission |
041147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R4433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41071192-41195274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41109787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 326
(S326P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025986]
[ENSMUST00000169941]
|
| AlphaFold |
Q9WVM6 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000169941
AA Change: S326P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: S326P
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
G |
7: 119,153,732 (GRCm39) |
H14R |
unknown |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ak5 |
A |
G |
3: 152,361,517 (GRCm39) |
I135T |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,236 (GRCm39) |
S1038* |
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Ap2m1 |
A |
T |
16: 20,362,134 (GRCm39) |
H414L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,100,842 (GRCm39) |
M649K |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Calhm6 |
T |
A |
10: 34,003,827 (GRCm39) |
T27S |
probably damaging |
Het |
| Cdc25b |
A |
G |
2: 131,033,618 (GRCm39) |
S186G |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,587,514 (GRCm39) |
V418A |
possibly damaging |
Het |
| Cntnap3 |
A |
C |
13: 64,926,667 (GRCm39) |
S568A |
possibly damaging |
Het |
| Col24a1 |
G |
T |
3: 145,020,144 (GRCm39) |
V172F |
possibly damaging |
Het |
| Dynlt4 |
C |
T |
4: 116,985,320 (GRCm39) |
R48C |
probably damaging |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Esp36 |
T |
A |
17: 38,729,847 (GRCm39) |
T15S |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,200,466 (GRCm39) |
H869Q |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,448 (GRCm39) |
V1308A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,880 (GRCm39) |
T17A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,044,459 (GRCm39) |
K13R |
probably benign |
Het |
| Hycc1 |
A |
C |
5: 24,184,579 (GRCm39) |
C218G |
possibly damaging |
Het |
| Kdr |
A |
G |
5: 76,104,585 (GRCm39) |
M1133T |
possibly damaging |
Het |
| Mgarp |
A |
G |
3: 51,303,681 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,367,712 (GRCm39) |
T337I |
probably damaging |
Het |
| Nfib |
C |
T |
4: 82,416,672 (GRCm39) |
R137Q |
probably damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,285 (GRCm39) |
*499W |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,944,096 (GRCm39) |
E890G |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,327 (GRCm39) |
V228A |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,689 (GRCm39) |
S263T |
probably benign |
Het |
| Ntm |
A |
T |
9: 28,923,516 (GRCm39) |
Y45* |
probably null |
Het |
| Nts |
A |
G |
10: 102,320,888 (GRCm39) |
V67A |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,537 (GRCm39) |
S91T |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,712 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Or51ag1 |
T |
A |
7: 103,155,346 (GRCm39) |
K269M |
probably benign |
Het |
| Ostm1 |
C |
A |
10: 42,555,119 (GRCm39) |
A47E |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,925,881 (GRCm39) |
V19M |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcdhgb1 |
T |
C |
18: 37,814,304 (GRCm39) |
I265T |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,045,967 (GRCm39) |
E321G |
possibly damaging |
Het |
| Phactr3 |
C |
A |
2: 177,924,925 (GRCm39) |
R251S |
probably damaging |
Het |
| Pkdcc |
C |
T |
17: 83,528,570 (GRCm39) |
T313M |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,755,745 (GRCm39) |
E1911V |
probably damaging |
Het |
| Ptprv |
G |
T |
1: 135,042,308 (GRCm39) |
|
noncoding transcript |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rhob |
A |
G |
12: 8,549,533 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,419,829 (GRCm39) |
I1000F |
possibly damaging |
Het |
| Tcf7 |
G |
T |
11: 52,152,442 (GRCm39) |
P36T |
probably benign |
Het |
| Tcf7l1 |
C |
G |
6: 72,765,752 (GRCm39) |
E62Q |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,014,954 (GRCm39) |
N288S |
probably benign |
Het |
| Zfhx3 |
G |
A |
8: 109,682,269 (GRCm39) |
R3236H |
unknown |
Het |
| Zfp764l1 |
T |
G |
7: 126,992,174 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,355,727 (GRCm39) |
T318A |
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 |
|
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'- GGCCTGTCTTACAAGGTGTC -3'
(R):5'- ACATCAGGGTTGCATCTAGGC -3'
Sequencing Primer
(F):5'- AGGTGTCCCTTCTCCAAGTC -3'
(R):5'- GTGTGAACAGGAAACAATTCTCTGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation