Incidental Mutation 'R5283:Tll1'
ID 402875
Institutional Source Beutler Lab
Gene Symbol Tll1
Ensembl Gene ENSMUSG00000053626
Gene Name tolloid-like
Synonyms Tll-1, b2b2476Clo
MMRRC Submission 042868-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5283 (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 C at 64555000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 228 (I228V)
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: I228V

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: I228V

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C T 1: 74,323,165 (GRCm39) E53K possibly damaging Het
Amotl1 T C 9: 14,469,780 (GRCm39) E651G probably damaging Het
Ankrd11 A C 8: 123,610,921 (GRCm39) V2655G probably damaging Het
Apbb1ip G A 2: 22,757,683 (GRCm39) V434M probably benign Het
Atp5pd T C 11: 115,306,611 (GRCm39) Y150C probably damaging Het
Ccdc13 T A 9: 121,637,254 (GRCm39) D75V probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crh T C 3: 19,748,171 (GRCm39) H157R probably damaging Het
Cstdc6 T C 16: 36,142,205 (GRCm39) D57G probably damaging Het
Dpp4 G A 2: 62,190,680 (GRCm39) T392I probably damaging Het
Ehd3 G T 17: 74,127,498 (GRCm39) A144S probably benign Het
Fnip2 A T 3: 79,373,015 (GRCm39) I1021N probably damaging Het
Fus T A 7: 127,584,719 (GRCm39) probably benign Het
Glo1 T C 17: 30,819,047 (GRCm39) T92A probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15130 A C 2: 110,965,754 (GRCm39) M165R unknown Het
Gon4l T C 3: 88,794,897 (GRCm39) L700P probably damaging Het
Grm1 C A 10: 10,608,936 (GRCm39) D566Y possibly damaging Het
Guca1b T C 17: 47,702,195 (GRCm39) probably benign Het
Has3 A G 8: 107,600,747 (GRCm39) M70V probably damaging Het
Hydin G T 8: 111,178,612 (GRCm39) C1069F possibly damaging Het
Ints1 A C 5: 139,750,137 (GRCm39) L920R probably damaging Het
Kdm2a T C 19: 4,381,297 (GRCm39) I54V probably benign Het
Kpna2 G A 11: 106,881,658 (GRCm39) T324I probably damaging Het
Lrr1 T C 12: 69,221,428 (GRCm39) L190S probably damaging Het
Lrrc49 A T 9: 60,594,461 (GRCm39) H16Q probably benign Het
Mab21l4 C T 1: 93,087,575 (GRCm39) D93N probably benign Het
Mapkap1 A G 2: 34,334,360 (GRCm39) E147G probably damaging Het
Mrpl2 C T 17: 46,959,992 (GRCm39) R219W possibly damaging Het
Muc21 A G 17: 35,932,224 (GRCm39) probably benign Het
Ndc80 A G 17: 71,828,130 (GRCm39) S66P probably benign Het
Notch1 A G 2: 26,358,638 (GRCm39) Y1398H probably damaging Het
Olfml2b C T 1: 170,508,758 (GRCm39) R539* probably null Het
Or6b9 T A 7: 106,555,955 (GRCm39) T63S probably benign Het
Pde7a T C 3: 19,314,420 (GRCm39) T59A probably damaging Het
Plekhg1 G A 10: 3,906,654 (GRCm39) V524I probably benign Het
Plin4 T A 17: 56,413,777 (GRCm39) M283L probably benign Het
Prp2 C T 6: 132,577,606 (GRCm39) P298S unknown Het
Rap1gap2 G A 11: 74,286,651 (GRCm39) R550C probably damaging Het
Reln G A 5: 22,216,161 (GRCm39) T1008I probably damaging Het
Rffl T C 11: 82,703,615 (GRCm39) K103E probably damaging Het
Rmnd5b A T 11: 51,517,887 (GRCm39) F156I probably damaging Het
Rtn4ip1 T C 10: 43,778,461 (GRCm39) I68T probably damaging Het
Samhd1 T C 2: 156,951,412 (GRCm39) I442V possibly damaging Het
Slc12a4 A T 8: 106,677,326 (GRCm39) probably null Het
Slc35b1 G T 11: 95,275,814 (GRCm39) probably benign Het
Ssh1 A G 5: 114,088,606 (GRCm39) V354A probably damaging Het
Stk33 T C 7: 108,935,334 (GRCm39) K153E possibly damaging Het
Stk4 C T 2: 163,952,199 (GRCm39) R19* probably null Het
Tas2r136 A T 6: 132,754,374 (GRCm39) I251N probably damaging Het
Tbr1 A T 2: 61,635,244 (GRCm39) T65S probably benign Het
Tkt C T 14: 30,282,575 (GRCm39) S124F probably damaging Het
Tmem236 A G 2: 14,179,644 (GRCm39) I82V probably benign Het
Vmn2r110 T C 17: 20,800,899 (GRCm39) Q511R probably benign Het
Vmn2r98 T C 17: 19,300,981 (GRCm39) M661T probably benign Het
Vps13a T A 19: 16,655,334 (GRCm39) K1898I probably damaging Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G 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
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
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'- TCAGTGCAGATCTCAGACCC -3'
(R):5'- CTGACTCAGGATATGCTGTGC -3'

Sequencing Primer
(F):5'- GTGCAGATCTCAGACCCCTTTAAG -3'
(R):5'- CTGACTCAGGATATGCTGTGCTATAC -3'
Posted On 2016-07-22