Incidental Mutation 'R0521:Tll1'
ID 48549
Institutional Source Beutler Lab
Gene Symbol Tll1
Ensembl Gene ENSMUSG00000053626
Gene Name tolloid-like
Synonyms Tll-1, b2b2476Clo
MMRRC Submission 038714-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0521 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 64467965-64659305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 64551505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 292 (D292A)
Ref Sequence ENSEMBL: ENSMUSP00000070560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066166]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066166
AA Change: D292A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: D292A

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209451
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
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 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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,182,464 (GRCm39) S335T probably damaging Het
Abcb1b G A 5: 8,914,238 (GRCm39) A1203T probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Angel1 G A 12: 86,769,681 (GRCm39) S193F probably benign Het
Ankrd16 T C 2: 11,794,692 (GRCm39) V359A probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Bpifa5 C A 2: 154,008,869 (GRCm39) D223E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Ccm2 G A 11: 6,540,886 (GRCm39) S184N probably damaging Het
Ces5a T A 8: 94,252,286 (GRCm39) D202V probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Cog7 C A 7: 121,540,392 (GRCm39) probably null Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Cps1 A C 1: 67,254,723 (GRCm39) D1304A probably benign Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Ctdspl2 T A 2: 121,837,368 (GRCm39) C377* probably null Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Ddost A G 4: 138,038,046 (GRCm39) T262A probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Ddx54 A G 5: 120,764,927 (GRCm39) I769V probably benign Het
Dock1 T A 7: 134,745,507 (GRCm39) I1463N probably benign Het
Dsg3 T A 18: 20,660,872 (GRCm39) Y404N possibly damaging Het
Epb42 T A 2: 120,859,631 (GRCm39) K186* probably null Het
Farp2 A G 1: 93,504,543 (GRCm39) probably null Het
Fbxl9 A T 8: 106,039,425 (GRCm39) L617Q probably damaging Het
Fev C A 1: 74,921,692 (GRCm39) R86L possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Foxn3 A G 12: 99,175,765 (GRCm39) V261A probably benign Het
Fsd1 A G 17: 56,298,245 (GRCm39) D190G probably benign Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Gsdma2 A T 11: 98,545,727 (GRCm39) K260* probably null Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hic1 G A 11: 75,057,713 (GRCm39) P392L possibly damaging Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna6 G T 4: 88,745,887 (GRCm39) V79F probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kdm5b T A 1: 134,545,771 (GRCm39) S977R possibly damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Map1a T G 2: 121,136,234 (GRCm39) L2350R probably damaging Het
Mdfic A G 6: 15,799,755 (GRCm39) D212G probably benign Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Myo9a T A 9: 59,801,635 (GRCm39) F1944L probably damaging Het
Nbea A T 3: 55,915,689 (GRCm39) W928R probably damaging Het
Nfatc2ip T G 7: 125,995,751 (GRCm39) D46A possibly damaging Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nsd2 T A 5: 34,000,682 (GRCm39) N66K probably damaging Het
Nsmce4a T C 7: 130,138,732 (GRCm39) H304R probably damaging Het
Odad2 G A 18: 7,222,676 (GRCm39) P531L possibly damaging Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or4a2 T C 2: 89,248,544 (GRCm39) Y71C probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or7e168 G A 9: 19,720,156 (GRCm39) V181I probably benign Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
Or8h9 C T 2: 86,789,190 (GRCm39) G204D probably damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Pramel32 A T 4: 88,547,559 (GRCm39) N37K probably damaging Het
R3hdm1 G A 1: 128,121,440 (GRCm39) V315I probably benign Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Thnsl2 A T 6: 71,111,243 (GRCm39) D208E probably damaging Het
Tie1 A C 4: 118,333,343 (GRCm39) I841R probably damaging Het
Tnfaip8l1 A T 17: 56,478,727 (GRCm39) T6S probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Vmn2r9 C A 5: 108,996,154 (GRCm39) G165* probably null Het
Xkr6 A T 14: 64,056,871 (GRCm39) I261F probably benign Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Yipf1 A G 4: 107,193,387 (GRCm39) Y91C probably benign Het
Zfp442 T C 2: 150,253,169 (GRCm39) D31G possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zfp804a C T 2: 82,089,761 (GRCm39) Q1197* probably null Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Tll1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6019:Tll1 UTSW 8 64,494,525 (GRCm39) missense possibly damaging 0.83
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'- TCCACTTTTGACCCAGGGCAATATTTC -3'
(R):5'- CCACTCCTGTGTCAGGTGACAATTAG -3'

Sequencing Primer
(F):5'- GACCCAGGGCAATATTTCTACTTC -3'
(R):5'- TTCCCGGACACTTAGGTCAAGA -3'
Posted On 2013-06-12