Incidental Mutation 'R3889:Tll1'
ID 310190
Institutional Source Beutler Lab
Gene Symbol Tll1
Ensembl Gene ENSMUSG00000053626
Gene Name tolloid-like
Synonyms Tll-1, b2b2476Clo
MMRRC Submission 040801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3889 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 64467965-64659305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64658258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 54 (C54S)
Ref Sequence ENSEMBL: ENSMUSP00000070560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066166] [ENSMUST00000210256]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000066166
AA Change: C54S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: C54S

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
Predicted Effect probably benign
Transcript: ENSMUST00000210256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211755
Meta Mutation Damage Score 0.5798 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
7530416G11Rik A G 15: 85,378,292 (GRCm39) F117S unknown Het
Adamts5 A G 16: 85,665,009 (GRCm39) W652R probably damaging Het
Adamtsl4 G T 3: 95,588,167 (GRCm39) Q607K probably damaging Het
Atm T C 9: 53,417,936 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Baiap2l1 T C 5: 144,215,345 (GRCm39) T387A possibly damaging Het
Cct3 A T 3: 88,228,334 (GRCm39) Q472L probably benign Het
Chd3 C T 11: 69,250,011 (GRCm39) E623K probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dclre1a A T 19: 56,533,752 (GRCm39) C263S probably benign Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Elp1 G A 4: 56,759,852 (GRCm39) R1138C probably damaging Het
Epha3 A G 16: 63,431,327 (GRCm39) F526L probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fat2 C A 11: 55,172,589 (GRCm39) G2708V probably damaging Het
Fgd6 G A 10: 93,925,499 (GRCm39) E853K probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Fsd1 A G 17: 56,300,893 (GRCm39) K251E probably benign Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
H6pd T A 4: 150,080,230 (GRCm39) Y197F possibly damaging Het
Hip1r C T 5: 124,139,854 (GRCm39) R986* probably null Het
Igkv9-120 A G 6: 68,027,362 (GRCm39) D92G probably damaging Het
Il6 A G 5: 30,223,066 (GRCm39) K128E possibly damaging Het
Irf4 T C 13: 30,945,473 (GRCm39) probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Ltbp2 A G 12: 84,831,681 (GRCm39) probably benign Het
Pcmt1 C T 10: 7,524,814 (GRCm39) probably null Het
Plekhm2 C T 4: 141,369,301 (GRCm39) probably benign Het
Prkca C T 11: 107,870,066 (GRCm39) G450R probably damaging Het
Psme3 C A 11: 101,210,282 (GRCm39) P82T probably damaging Het
Rgs11 T C 17: 26,426,561 (GRCm39) I262T probably damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpina1e A T 12: 103,917,132 (GRCm39) V179E probably damaging Het
Sgo2b T C 8: 64,380,777 (GRCm39) Q685R possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc25a45 C T 19: 5,930,661 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Spen A G 4: 141,205,192 (GRCm39) V1145A unknown Het
Stub1 T C 17: 26,050,276 (GRCm39) probably benign Het
Taar8a A G 10: 23,952,923 (GRCm39) I176V probably benign Het
Tacr2 G A 10: 62,100,865 (GRCm39) C325Y probably damaging Het
Tbc1d17 T A 7: 44,495,362 (GRCm39) H154L probably damaging Het
Tpsb2 G A 17: 25,586,457 (GRCm39) V181I probably damaging Het
Trak1 A G 9: 121,274,939 (GRCm39) N146S probably null Het
Vmn1r177 T C 7: 23,565,289 (GRCm39) I196V possibly damaging Het
Zfp820 T C 17: 22,037,877 (GRCm39) I484V 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
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'- AGAACTCCAGGGAACTTGGG -3'
(R):5'- GGATAAGAACACTGTCCCTAGAGC -3'

Sequencing Primer
(F):5'- AGGGAACTTGGGCCGCC -3'
(R):5'- GTCCCTAGAGCCCCGCATATC -3'
Posted On 2015-04-17