Incidental Mutation 'R6019:Tll1'
| ID |
478798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tll1
|
| Ensembl Gene |
ENSMUSG00000053626 |
| Gene Name |
tolloid-like |
| Synonyms |
Tll-1, b2b2476Clo |
| MMRRC Submission |
044193-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
64467965-64659305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64494525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 743
(H743Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066166
AA Change: H743Q
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: H743Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnMc
|
153 |
295 |
4.12e-56 |
SMART |
|
CUB
|
349 |
461 |
4.12e-44 |
SMART |
|
CUB
|
462 |
574 |
3.81e-48 |
SMART |
|
EGF_CA
|
574 |
615 |
2.28e-9 |
SMART |
|
CUB
|
618 |
730 |
9.11e-46 |
SMART |
|
EGF_CA
|
730 |
770 |
4.25e-9 |
SMART |
|
CUB
|
774 |
886 |
2.01e-47 |
SMART |
|
CUB
|
887 |
1003 |
7.19e-35 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
96% (81/84) |
| 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 that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,371,201 (GRCm39) |
H436Y |
possibly damaging |
Het |
| Acad10 |
A |
T |
5: 121,772,864 (GRCm39) |
H472Q |
possibly damaging |
Het |
| Ano8 |
G |
A |
8: 71,935,024 (GRCm39) |
R393C |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,736,646 (GRCm39) |
V163E |
probably damaging |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,775,214 (GRCm39) |
M52V |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,031,495 (GRCm39) |
C1249R |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,772,272 (GRCm39) |
S1086N |
probably benign |
Het |
| Chi3l1 |
T |
C |
1: 134,117,310 (GRCm39) |
F367S |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,787,868 (GRCm39) |
I610N |
possibly damaging |
Het |
| Cpa6 |
T |
C |
1: 10,665,868 (GRCm39) |
K57E |
possibly damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,787,036 (GRCm39) |
A111T |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,803,838 (GRCm39) |
M361T |
probably benign |
Het |
| Dnm3 |
G |
T |
1: 161,962,070 (GRCm39) |
F46L |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,853,552 (GRCm39) |
C122* |
probably null |
Het |
| Dspp |
A |
T |
5: 104,325,905 (GRCm39) |
D756V |
unknown |
Het |
| Efcab3 |
T |
C |
11: 104,933,728 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,525,583 (GRCm39) |
M1469K |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,818,283 (GRCm39) |
I4672T |
possibly damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,996 (GRCm39) |
L67* |
probably null |
Het |
| Gpr75 |
A |
G |
11: 30,841,640 (GRCm39) |
R182G |
probably benign |
Het |
| Gsr |
G |
T |
8: 34,183,835 (GRCm39) |
A366S |
probably damaging |
Het |
| Gypc |
A |
G |
18: 32,663,248 (GRCm39) |
I33T |
probably damaging |
Het |
| Hapln1 |
A |
G |
13: 89,756,219 (GRCm39) |
D341G |
probably benign |
Het |
| Hnrnpd |
A |
G |
5: 100,115,095 (GRCm39) |
S148P |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,252 (GRCm39) |
T3450S |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,864 (GRCm39) |
V1002A |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,625,521 (GRCm39) |
V597A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,900,579 (GRCm39) |
T226A |
probably benign |
Het |
| Krt75 |
C |
A |
15: 101,482,158 (GRCm39) |
V37L |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,571,143 (GRCm39) |
I668V |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,192,982 (GRCm39) |
A480V |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,366,821 (GRCm39) |
D485V |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,347,422 (GRCm39) |
H3091R |
unknown |
Het |
| Msi1 |
A |
G |
5: 115,589,550 (GRCm39) |
Y361C |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,536,077 (GRCm39) |
N546K |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,936 (GRCm39) |
T113S |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,938 (GRCm39) |
D1479V |
probably damaging |
Het |
| Ncor1 |
C |
T |
11: 62,263,987 (GRCm39) |
E198K |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,501 (GRCm39) |
V722A |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,217,925 (GRCm39) |
F104L |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,491 (GRCm39) |
R269* |
probably null |
Het |
| Or5ac24 |
C |
T |
16: 59,165,798 (GRCm39) |
D89N |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,938,374 (GRCm39) |
M2028V |
probably benign |
Het |
| Paox |
T |
A |
7: 139,711,655 (GRCm39) |
V169E |
probably damaging |
Het |
| Pcsk9 |
T |
G |
4: 106,314,073 (GRCm39) |
D174A |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,427,966 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,034,943 (GRCm39) |
I419T |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,715 (GRCm39) |
E1186* |
probably null |
Het |
| Pole |
C |
A |
5: 110,472,380 (GRCm39) |
P1548T |
probably benign |
Het |
| Pole |
C |
T |
5: 110,472,381 (GRCm39) |
P1548L |
probably benign |
Het |
| Polq |
A |
G |
16: 36,882,126 (GRCm39) |
E1430G |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,966 (GRCm39) |
C337S |
probably benign |
Het |
| Pramel47 |
G |
A |
5: 95,488,072 (GRCm39) |
S2N |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,344,920 (GRCm39) |
S98P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,730,827 (GRCm39) |
Y1903H |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,122,376 (GRCm39) |
D338G |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnase13 |
C |
T |
14: 52,159,860 (GRCm39) |
C93Y |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| S100z |
T |
A |
13: 95,613,934 (GRCm39) |
M59L |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,332,992 (GRCm39) |
D142V |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,847,931 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,880,233 (GRCm39) |
V669A |
probably benign |
Het |
| Snrpd3 |
A |
T |
10: 75,368,029 (GRCm39) |
T49S |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,264,549 (GRCm39) |
L856P |
possibly damaging |
Het |
| Srek1ip1 |
T |
A |
13: 104,970,830 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,875,796 (GRCm39) |
S552P |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,838,886 (GRCm39) |
V60A |
probably benign |
Het |
| Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
| Tpo |
G |
T |
12: 30,144,980 (GRCm39) |
R590S |
possibly damaging |
Het |
| Trbv12-1 |
A |
T |
6: 41,090,780 (GRCm39) |
T51S |
probably benign |
Het |
| Trbv30 |
C |
T |
6: 41,258,708 (GRCm39) |
A40V |
probably benign |
Het |
| Tulp4 |
T |
A |
17: 6,283,490 (GRCm39) |
V1173E |
possibly damaging |
Het |
| Upk1a |
A |
T |
7: 30,311,810 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
C |
2: 128,879,610 (GRCm39) |
Q772R |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,566,769 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,643 (GRCm39) |
T317A |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,997,289 (GRCm39) |
V3112A |
probably damaging |
Het |
| Zbtb8os |
T |
C |
4: 129,234,542 (GRCm39) |
V40A |
possibly damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,132 (GRCm39) |
H99L |
probably damaging |
Het |
| Zwint |
A |
G |
10: 72,492,685 (GRCm39) |
K108E |
possibly damaging |
Het |
|
| Other mutations in Tll1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Tll1
|
APN |
8 |
64,469,170 (GRCm39) |
missense |
probably benign |
|
|
IGL00583:Tll1
|
APN |
8 |
64,658,326 (GRCm39) |
missense |
probably benign |
|
|
IGL00767:Tll1
|
APN |
8 |
64,524,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Tll1
|
APN |
8 |
64,491,488 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01077:Tll1
|
APN |
8 |
64,523,266 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01536:Tll1
|
APN |
8 |
64,527,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Tll1
|
APN |
8 |
64,469,132 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02168:Tll1
|
APN |
8 |
64,507,001 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02378:Tll1
|
APN |
8 |
64,470,660 (GRCm39) |
nonsense |
probably null |
|
|
IGL02469:Tll1
|
APN |
8 |
64,523,314 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02504:Tll1
|
APN |
8 |
64,523,271 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02650:Tll1
|
APN |
8 |
64,500,031 (GRCm39) |
splice site |
probably benign |
|
|
IGL02937:Tll1
|
APN |
8 |
64,658,319 (GRCm39) |
nonsense |
probably null |
|
|
IGL03006:Tll1
|
APN |
8 |
64,527,251 (GRCm39) |
splice site |
probably benign |
|
|
R0518:Tll1
|
UTSW |
8 |
64,551,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Tll1
|
UTSW |
8 |
64,551,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Tll1
|
UTSW |
8 |
64,491,486 (GRCm39) |
splice site |
probably null |
|
|
R0612:Tll1
|
UTSW |
8 |
64,524,344 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0690:Tll1
|
UTSW |
8 |
64,527,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Tll1
|
UTSW |
8 |
64,554,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Tll1
|
UTSW |
8 |
64,491,524 (GRCm39) |
missense |
probably benign |
|
|
R1619:Tll1
|
UTSW |
8 |
64,509,307 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1625:Tll1
|
UTSW |
8 |
64,494,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Tll1
|
UTSW |
8 |
64,570,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1663:Tll1
|
UTSW |
8 |
64,470,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1681:Tll1
|
UTSW |
8 |
64,538,585 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1713:Tll1
|
UTSW |
8 |
64,554,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1908:Tll1
|
UTSW |
8 |
64,478,141 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2118:Tll1
|
UTSW |
8 |
64,538,591 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2121:Tll1
|
UTSW |
8 |
64,538,591 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2124:Tll1
|
UTSW |
8 |
64,538,591 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2360:Tll1
|
UTSW |
8 |
64,504,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Tll1
|
UTSW |
8 |
64,523,324 (GRCm39) |
nonsense |
probably null |
|
|
R3032:Tll1
|
UTSW |
8 |
64,551,526 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3115:Tll1
|
UTSW |
8 |
64,506,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Tll1
|
UTSW |
8 |
64,658,258 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4126:Tll1
|
UTSW |
8 |
64,571,048 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4182:Tll1
|
UTSW |
8 |
64,494,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Tll1
|
UTSW |
8 |
64,509,343 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4677:Tll1
|
UTSW |
8 |
64,504,411 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4811:Tll1
|
UTSW |
8 |
64,538,507 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4904:Tll1
|
UTSW |
8 |
64,523,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Tll1
|
UTSW |
8 |
64,546,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5061:Tll1
|
UTSW |
8 |
64,506,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5078:Tll1
|
UTSW |
8 |
64,546,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Tll1
|
UTSW |
8 |
64,504,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5283:Tll1
|
UTSW |
8 |
64,555,000 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5399:Tll1
|
UTSW |
8 |
64,538,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Tll1
|
UTSW |
8 |
64,570,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5986:Tll1
|
UTSW |
8 |
64,527,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6046:Tll1
|
UTSW |
8 |
64,506,925 (GRCm39) |
nonsense |
probably null |
|
|
R6083:Tll1
|
UTSW |
8 |
64,491,620 (GRCm39) |
splice site |
probably null |
|
|
R6125:Tll1
|
UTSW |
8 |
64,504,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Tll1
|
UTSW |
8 |
64,551,568 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6275:Tll1
|
UTSW |
8 |
64,504,401 (GRCm39) |
nonsense |
probably null |
|
|
R6508:Tll1
|
UTSW |
8 |
64,551,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6758:Tll1
|
UTSW |
8 |
64,494,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6782:Tll1
|
UTSW |
8 |
64,524,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6848:Tll1
|
UTSW |
8 |
64,551,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7057:Tll1
|
UTSW |
8 |
64,554,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Tll1
|
UTSW |
8 |
64,577,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7244:Tll1
|
UTSW |
8 |
64,478,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7336:Tll1
|
UTSW |
8 |
64,478,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7373:Tll1
|
UTSW |
8 |
64,504,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7626:Tll1
|
UTSW |
8 |
64,551,268 (GRCm39) |
splice site |
probably null |
|
|
R7687:Tll1
|
UTSW |
8 |
64,574,526 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Tll1
|
UTSW |
8 |
64,546,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7700:Tll1
|
UTSW |
8 |
64,546,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7765:Tll1
|
UTSW |
8 |
64,504,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Tll1
|
UTSW |
8 |
64,478,271 (GRCm39) |
nonsense |
probably null |
|
|
R7954:Tll1
|
UTSW |
8 |
64,571,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Tll1
|
UTSW |
8 |
64,577,940 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8792:Tll1
|
UTSW |
8 |
64,538,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9134:Tll1
|
UTSW |
8 |
64,469,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9444:Tll1
|
UTSW |
8 |
64,469,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9539:Tll1
|
UTSW |
8 |
64,494,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Tll1
|
UTSW |
8 |
64,470,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Tll1
|
UTSW |
8 |
64,500,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAGCAGTGTCATTCAC -3'
(R):5'- TCCTAGCCAAACAAAGGATGAG -3'
Sequencing Primer
(F):5'- GTCATTCACAGAAGTGGTTAACAGC -3'
(R):5'- CTAGCCAAACAAAGGATGAGTTAAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation