Incidental Mutation 'IGL01743:Ttll4'
ID 152900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll4
Ensembl Gene ENSMUSG00000033257
Gene Name tubulin tyrosine ligase-like family, member 4
Synonyms 4632407P03Rik
Accession Numbers

Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125

Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL01743
Quality Score
Status
Chromosome 1
Chromosomal Location 74661745-74703730 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74688193 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 798 (N798S)
Ref Sequence ENSEMBL: ENSMUSP00000037406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042125] [ENSMUST00000113678] [ENSMUST00000141119]
AlphaFold Q80UG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000042125
AA Change: N798S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: N798S

DomainStartEndE-ValueType
low complexity region 504 544 N/A INTRINSIC
Pfam:TTL 645 940 2.2e-106 PFAM
low complexity region 942 961 N/A INTRINSIC
low complexity region 1103 1113 N/A INTRINSIC
low complexity region 1168 1182 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113678
AA Change: N734S
SMART Domains Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: N734S

DomainStartEndE-ValueType
low complexity region 504 544 N/A INTRINSIC
Pfam:TTL 636 876 3.4e-82 PFAM
low complexity region 878 897 N/A INTRINSIC
low complexity region 1039 1049 N/A INTRINSIC
low complexity region 1104 1118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140591
Predicted Effect probably benign
Transcript: ENSMUST00000141119
SMART Domains Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

DomainStartEndE-ValueType
low complexity region 56 96 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155753
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik G T 8: 3,364,697 C25F probably benign Het
Abcc6 A T 7: 45,996,814 N750K probably benign Het
Ackr2 T C 9: 121,909,500 C314R probably benign Het
Adar C T 3: 89,745,440 Q210* probably null Het
Aifm1 A G X: 48,480,276 probably benign Het
Aldoa G T 7: 126,796,703 D198E probably damaging Het
Ampd1 T A 3: 103,094,885 probably benign Het
Btnl1 T C 17: 34,385,685 I480T probably damaging Het
Capn9 T C 8: 124,591,769 S125P probably benign Het
Cd40lg T A X: 57,212,232 Y26* probably null Het
Cdc42bpg G T 19: 6,309,823 probably null Het
Cdh10 T C 15: 18,986,769 L362P probably benign Het
Dhx16 A G 17: 35,888,108 D782G probably damaging Het
Dnajb14 G T 3: 137,906,000 V320L possibly damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Ercc6 T C 14: 32,552,604 V568A probably damaging Het
Faf2 T C 13: 54,641,498 probably null Het
Fbrsl1 C T 5: 110,381,640 V223M probably damaging Het
Fcrl5 T C 3: 87,444,291 V282A probably damaging Het
Fxr2 C T 11: 69,652,622 L650F possibly damaging Het
Gabrq A G X: 72,836,842 M314V probably benign Het
Gnas T A 2: 174,298,332 Y157* probably null Het
Gtf2i T C 5: 134,286,893 E175G probably damaging Het
Gtf3c1 A C 7: 125,663,415 Y1091D probably damaging Het
Heatr5b G A 17: 78,824,640 Q345* probably null Het
Hydin T C 8: 110,592,776 V4437A possibly damaging Het
Idi2 T A 13: 8,958,542 L112Q probably damaging Het
Ift80 C T 3: 68,962,296 V221M probably benign Het
Il16 A G 7: 83,652,299 F205S probably benign Het
Irf1 T A 11: 53,774,451 M218K probably benign Het
Itga8 T C 2: 12,265,333 N114S probably benign Het
Itgae T C 11: 73,111,759 V114A probably benign Het
Klhdc10 A G 6: 30,441,934 probably null Het
Krt78 C A 15: 101,950,898 R288L probably benign Het
Lars2 A T 9: 123,453,248 L632F probably damaging Het
Mpdz T C 4: 81,317,682 D1220G probably damaging Het
Msl1 C T 11: 98,805,419 T597I probably damaging Het
Mtor T C 4: 148,530,613 probably benign Het
Myo1b T C 1: 51,782,020 T435A probably damaging Het
Neb A G 2: 52,225,667 Y4176H probably damaging Het
Nxpe3 A G 16: 55,849,765 F326L probably benign Het
Olfr532 T C 7: 140,419,668 Y35C probably damaging Het
Olfr705 A G 7: 106,714,334 S116P possibly damaging Het
Pak7 T A 2: 136,087,413 R617W probably damaging Het
Peak1 C A 9: 56,259,202 V481L probably damaging Het
Pik3ap1 G A 19: 41,292,828 probably benign Het
Pmm1 C T 15: 81,960,786 E6K probably benign Het
Ppp2r5c G A 12: 110,580,434 V454M probably benign Het
Ptprf C T 4: 118,248,898 probably null Het
Pygm G A 19: 6,392,994 probably null Het
Rimbp2 T A 5: 128,797,848 probably benign Het
Rps6ka5 A T 12: 100,575,633 probably null Het
Scarb2 A G 5: 92,460,803 V188A probably benign Het
Sfrp1 T A 8: 23,412,338 probably benign Het
Siglec15 T A 18: 78,043,605 probably benign Het
Smgc A G 15: 91,854,593 I485V probably benign Het
Tas2r124 A G 6: 132,754,835 I36V probably benign Het
Trmt10b G T 4: 45,305,879 G185W probably damaging Het
Ttn G T 2: 76,789,552 T15924N probably damaging Het
Utrn A T 10: 12,711,557 Y912N possibly damaging Het
Vmn2r113 T C 17: 22,958,311 Y690H probably benign Het
Vmn2r51 T C 7: 10,100,227 R295G probably damaging Het
Vpreb3 A G 10: 75,948,397 T14A probably benign Het
Other mutations in Ttll4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Ttll4 APN 1 74685893 missense probably damaging 1.00
IGL01914:Ttll4 APN 1 74679058 missense probably benign 0.01
IGL02288:Ttll4 APN 1 74679401 missense probably benign 0.05
IGL02621:Ttll4 APN 1 74687484 missense probably damaging 1.00
IGL02662:Ttll4 APN 1 74687231 splice site probably null
IGL02890:Ttll4 APN 1 74687339 nonsense probably null
IGL02937:Ttll4 APN 1 74679503 missense possibly damaging 0.92
IGL03178:Ttll4 APN 1 74680408 missense probably damaging 0.96
IGL03412:Ttll4 APN 1 74687321 missense probably benign 0.28
1mM(1):Ttll4 UTSW 1 74689980 missense probably null 1.00
R0083:Ttll4 UTSW 1 74679769 missense probably benign 0.13
R0108:Ttll4 UTSW 1 74679769 missense probably benign 0.13
R0135:Ttll4 UTSW 1 74679928 missense possibly damaging 0.86
R0137:Ttll4 UTSW 1 74679692 missense possibly damaging 0.74
R0306:Ttll4 UTSW 1 74696757 missense probably benign 0.28
R0506:Ttll4 UTSW 1 74688618 missense probably benign 0.06
R0555:Ttll4 UTSW 1 74688280 missense probably damaging 1.00
R1617:Ttll4 UTSW 1 74679401 missense probably benign 0.05
R1649:Ttll4 UTSW 1 74697470 missense possibly damaging 0.52
R1793:Ttll4 UTSW 1 74687840 missense possibly damaging 0.91
R1898:Ttll4 UTSW 1 74697482 missense probably benign 0.01
R1952:Ttll4 UTSW 1 74687559 missense probably damaging 0.99
R1987:Ttll4 UTSW 1 74685368 missense possibly damaging 0.81
R1989:Ttll4 UTSW 1 74685368 missense possibly damaging 0.81
R2067:Ttll4 UTSW 1 74680382 missense possibly damaging 0.94
R2162:Ttll4 UTSW 1 74686391 missense probably damaging 1.00
R2185:Ttll4 UTSW 1 74679829 missense possibly damaging 0.54
R2875:Ttll4 UTSW 1 74686438 splice site probably null
R2876:Ttll4 UTSW 1 74686438 splice site probably null
R2895:Ttll4 UTSW 1 74685358 missense possibly damaging 0.92
R2896:Ttll4 UTSW 1 74685358 missense possibly damaging 0.92
R3157:Ttll4 UTSW 1 74697611 missense possibly damaging 0.81
R3832:Ttll4 UTSW 1 74686391 missense probably damaging 1.00
R4707:Ttll4 UTSW 1 74679007 missense possibly damaging 0.62
R4784:Ttll4 UTSW 1 74679007 missense possibly damaging 0.62
R4785:Ttll4 UTSW 1 74679007 missense possibly damaging 0.62
R5176:Ttll4 UTSW 1 74679286 missense probably damaging 0.99
R5202:Ttll4 UTSW 1 74687852 critical splice donor site probably null
R5244:Ttll4 UTSW 1 74696448 missense probably benign 0.30
R5264:Ttll4 UTSW 1 74686376 missense possibly damaging 0.92
R5452:Ttll4 UTSW 1 74679321 missense probably benign 0.06
R5992:Ttll4 UTSW 1 74685391 missense probably damaging 1.00
R6111:Ttll4 UTSW 1 74697539 missense possibly damaging 0.95
R6722:Ttll4 UTSW 1 74681789 missense possibly damaging 0.95
R6776:Ttll4 UTSW 1 74681353 missense probably damaging 1.00
R6815:Ttll4 UTSW 1 74679349 missense possibly damaging 0.89
R6836:Ttll4 UTSW 1 74689413 missense probably damaging 0.98
R6963:Ttll4 UTSW 1 74681816 missense probably damaging 1.00
R7271:Ttll4 UTSW 1 74688661 missense possibly damaging 0.83
R7508:Ttll4 UTSW 1 74687259 missense possibly damaging 0.81
R7714:Ttll4 UTSW 1 74679413 missense probably benign 0.00
R7837:Ttll4 UTSW 1 74681757 critical splice acceptor site probably null
R8032:Ttll4 UTSW 1 74696473 missense possibly damaging 0.82
R8036:Ttll4 UTSW 1 74679230 missense probably benign 0.02
R8115:Ttll4 UTSW 1 74687330 nonsense probably null
R8949:Ttll4 UTSW 1 74681816 missense probably damaging 0.99
R9145:Ttll4 UTSW 1 74679790 missense probably benign 0.02
R9156:Ttll4 UTSW 1 74680066 missense probably benign 0.00
R9329:Ttll4 UTSW 1 74685962 missense possibly damaging 0.85
Posted On 2014-02-04