Incidental Mutation 'R1713:Tll1'
ID 190779
Institutional Source Beutler Lab
Gene Symbol Tll1
Ensembl Gene ENSMUSG00000053626
Gene Name tolloid-like
Synonyms Tll-1, b2b2476Clo
MMRRC Submission 039746-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1713 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 64467965-64659305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64554907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 259 (N259Y)
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: N259Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: N259Y

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
Meta Mutation Damage Score 0.2867 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (96/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,964 (GRCm39) I54F possibly damaging Het
Ackr1 A T 1: 173,159,916 (GRCm39) H134Q probably benign Het
Agtr1b A T 3: 20,370,473 (GRCm39) F44L probably benign Het
Ahnak G A 19: 8,989,173 (GRCm39) D3486N possibly damaging Het
Akap9 T C 5: 4,089,345 (GRCm39) probably null Het
Anks6 T A 4: 47,039,726 (GRCm39) Q495L probably benign Het
Arpp21 A G 9: 111,896,237 (GRCm39) S684P probably damaging Het
Ash1l A G 3: 88,983,531 (GRCm39) E2911G probably damaging Het
Avpi1 C T 19: 42,113,248 (GRCm39) E70K probably damaging Het
Btbd17 G T 11: 114,686,650 (GRCm39) P9T probably benign Het
C4b A G 17: 34,948,245 (GRCm39) probably benign Het
Carm1 T C 9: 21,497,785 (GRCm39) V385A probably damaging Het
Casd1 A G 6: 4,624,104 (GRCm39) D299G probably damaging Het
Clca3a1 T A 3: 144,730,307 (GRCm39) K179N probably benign Het
Col1a2 T C 6: 4,538,691 (GRCm39) S1204P unknown Het
Col24a1 C T 3: 145,072,624 (GRCm39) Q780* probably null Het
Cxadr C A 16: 78,131,133 (GRCm39) N216K probably damaging Het
Daam1 C T 12: 71,942,656 (GRCm39) T40I unknown Het
Dab2 C T 15: 6,459,182 (GRCm39) P365S possibly damaging Het
Dnah1 A T 14: 31,001,139 (GRCm39) I2402N probably damaging Het
Dscaml1 T A 9: 45,663,988 (GRCm39) S1954R possibly damaging Het
Dync2h1 T C 9: 7,131,891 (GRCm39) T1639A probably benign Het
Ebf1 A T 11: 44,815,393 (GRCm39) I336F probably damaging Het
Ebna1bp2 A G 4: 118,482,881 (GRCm39) N290S possibly damaging Het
Gabra2 A G 5: 71,171,906 (GRCm39) I110T probably benign Het
Galk2 A G 2: 125,773,210 (GRCm39) N203S probably benign Het
Gria4 T C 9: 4,424,448 (GRCm39) T806A probably benign Het
Impg2 A G 16: 56,080,889 (GRCm39) T789A probably benign Het
Itga6 A G 2: 71,617,546 (GRCm39) T22A probably benign Het
Itgb4 T A 11: 115,894,315 (GRCm39) I1312N probably damaging Het
Kdm4c A G 4: 74,216,721 (GRCm39) D160G probably benign Het
Kdr A G 5: 76,129,127 (GRCm39) V173A probably benign Het
Kif14 T C 1: 136,455,202 (GRCm39) S1575P probably benign Het
Lcp1 G A 14: 75,436,884 (GRCm39) probably null Het
Lipe C A 7: 25,084,750 (GRCm39) S516I probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Macf1 A G 4: 123,272,487 (GRCm39) I6429T probably damaging Het
Map3k4 C T 17: 12,468,458 (GRCm39) E1012K probably benign Het
Map3k5 T C 10: 19,986,593 (GRCm39) F936L possibly damaging Het
Mllt3 A T 4: 87,701,901 (GRCm39) N497K probably damaging Het
Moxd1 G A 10: 24,157,394 (GRCm39) G342D probably damaging Het
Mtdh A C 15: 34,114,985 (GRCm39) Q202H possibly damaging Het
Nav1 A G 1: 135,522,972 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,886 (GRCm39) V109A possibly damaging Het
Obscn T C 11: 58,970,712 (GRCm39) D2540G probably damaging Het
Omg T C 11: 79,393,679 (GRCm39) I60V probably benign Het
Or10q12 A T 19: 13,746,659 (GRCm39) T318S probably benign Het
Or12e9 A T 2: 87,202,290 (GRCm39) Y138F probably damaging Het
Osbpl5 G A 7: 143,248,110 (GRCm39) H652Y probably damaging Het
Parvb T C 15: 84,182,192 (GRCm39) probably benign Het
Pcdhb3 A C 18: 37,436,375 (GRCm39) E780D probably benign Het
Pik3c3 A G 18: 30,456,639 (GRCm39) D723G possibly damaging Het
Prkdc T C 16: 15,612,958 (GRCm39) V3172A probably benign Het
Psme4 G T 11: 30,756,310 (GRCm39) W272L probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rhobtb1 A C 10: 69,108,601 (GRCm39) S434R probably benign Het
Rhobtb1 G C 10: 69,108,602 (GRCm39) S434T possibly damaging Het
Rnf8 T C 17: 29,853,735 (GRCm39) F413S probably damaging Het
Rpn2 A G 2: 157,156,888 (GRCm39) N497S probably damaging Het
Rsbn1l G T 5: 21,156,488 (GRCm39) P99Q probably benign Het
Serpinb3b A T 1: 107,083,164 (GRCm39) M246K probably benign Het
Sgsm2 T C 11: 74,787,652 (GRCm39) E19G probably null Het
Shank1 A G 7: 43,969,161 (GRCm39) H352R unknown Het
Slc17a7 A G 7: 44,819,728 (GRCm39) I177V probably benign Het
Slc28a2 T A 2: 122,281,494 (GRCm39) F228I probably damaging Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc38a1 T C 15: 96,476,641 (GRCm39) I407V probably damaging Het
Slc39a13 A G 2: 90,893,442 (GRCm39) V326A probably damaging Het
Slc44a5 T C 3: 153,944,743 (GRCm39) L120P probably damaging Het
Slfn3 T C 11: 83,104,140 (GRCm39) I214T probably damaging Het
Slitrk3 A C 3: 72,957,024 (GRCm39) S583A probably benign Het
Snx14 T C 9: 88,297,728 (GRCm39) Y180C probably damaging Het
Sorl1 T A 9: 41,907,538 (GRCm39) K1483I probably benign Het
Ssrp1 C A 2: 84,871,104 (GRCm39) H247N probably damaging Het
Stk39 A T 2: 68,137,460 (GRCm39) probably benign Het
Syde1 C T 10: 78,421,530 (GRCm39) G674R probably damaging Het
Tent4a A T 13: 69,651,170 (GRCm39) I565N probably benign Het
Themis3 G A 17: 66,862,848 (GRCm39) S370L probably benign Het
Tnip2 T G 5: 34,661,175 (GRCm39) probably benign Het
Top2b T C 14: 16,409,823 (GRCm38) V830A probably benign Het
Trpm8 T A 1: 88,292,802 (GRCm39) N934K probably damaging Het
Ttc14 A G 3: 33,857,069 (GRCm39) Y179C probably damaging Het
Ttn T G 2: 76,573,965 (GRCm39) I17316L possibly damaging Het
Tufm T C 7: 126,086,871 (GRCm39) V52A probably benign Het
Vamp8 T A 6: 72,365,270 (GRCm39) N20I probably benign Het
Vmn1r170 A T 7: 23,306,288 (GRCm39) H230L probably benign Het
Vmn2r50 T G 7: 9,771,731 (GRCm39) T657P probably damaging Het
Xirp2 G A 2: 67,342,762 (GRCm39) G1668R probably benign Het
Zik1 C A 7: 10,224,311 (GRCm39) R262L possibly damaging Het
Zscan25 T G 5: 145,220,501 (GRCm39) Y99D probably damaging 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
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'- GTGCAGATCTCAGACCCCTTTAAGTC -3'
(R):5'- GGAGTTTCATGCTATCATGTCCTGCTG -3'

Sequencing Primer
(F):5'- CTCAGACCCCTTTAAGTCTATACAG -3'
(R):5'- CTCCATAAGTTCTTTCTGTGCTG -3'
Posted On 2014-05-14