Incidental Mutation 'IGL03378:Ttll7'
ID420574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll7
Ensembl Gene ENSMUSG00000036745
Gene Nametubulin tyrosine ligase-like family, member 7
Synonyms1110049N09Rik, 4921517B04Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.471) question?
Stock #IGL03378
Quality Score
Status
Chromosome3
Chromosomal Location146852367-146984009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146909653 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 291 (F291L)
Ref Sequence ENSEMBL: ENSMUSP00000043753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037942] [ENSMUST00000106134] [ENSMUST00000170055]
Predicted Effect probably benign
Transcript: ENSMUST00000037942
AA Change: F291L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038090
SMART Domains Protein: ENSMUSP00000037875
Gene: ENSMUSG00000036745

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 9e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
low complexity region 591 601 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106134
AA Change: F291L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: F291L

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 7.2e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170055
AA Change: F291L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: F291L

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 5.9e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430069I07Rik T A 15: 34,355,632 I261N probably benign Het
Bace1 T A 9: 45,858,901 probably null Het
Caprin2 G T 6: 148,877,854 Q152K probably benign Het
Cdh16 C T 8: 104,619,285 D285N probably benign Het
Cnnm2 G A 19: 46,878,034 A874T possibly damaging Het
Dhx38 A T 8: 109,559,090 probably null Het
Dnhd1 A C 7: 105,713,733 E3834A possibly damaging Het
Erc2 A C 14: 28,011,723 S585R probably damaging Het
Gli3 A G 13: 15,644,420 E269G probably damaging Het
Gpr161 T C 1: 165,310,508 L204P probably damaging Het
Hp A G 8: 109,575,707 V203A probably damaging Het
Krtap6-5 A T 16: 89,047,789 C19S unknown Het
Lce1i A T 3: 92,777,726 S48T unknown Het
Lrp2 A T 2: 69,431,152 S4482T probably damaging Het
Mpdz A T 4: 81,419,048 probably benign Het
Olfr1049 T A 2: 86,255,019 I225L possibly damaging Het
Olfr1186 T A 2: 88,526,154 Y190* probably null Het
Olfr357 T C 2: 36,996,903 F31S probably damaging Het
Papola G T 12: 105,809,433 probably null Het
Prss23 T C 7: 89,510,144 D239G probably damaging Het
Setd2 A G 9: 110,553,152 T83A unknown Het
Sh3pxd2b T G 11: 32,381,443 L56V probably damaging Het
Ski A G 4: 155,160,872 S300P probably benign Het
Srebf2 T C 15: 82,169,788 S17P probably damaging Het
Svs5 C A 2: 164,333,340 H37Q probably benign Het
Tbx21 A G 11: 97,114,741 S133P probably benign Het
Tgfbr3 G T 5: 107,109,702 S830R probably damaging Het
Thsd1 A T 8: 22,243,778 K280N probably benign Het
Tnfrsf13c T A 15: 82,224,312 M1L probably benign Het
Ttn A G 2: 76,769,563 V10762A probably damaging Het
Other mutations in Ttll7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ttll7 APN 3 146909582 missense possibly damaging 0.72
IGL01353:Ttll7 APN 3 146961719 missense probably damaging 1.00
IGL01415:Ttll7 APN 3 146909599 missense possibly damaging 0.90
IGL01843:Ttll7 APN 3 146940021 missense possibly damaging 0.93
IGL03101:Ttll7 APN 3 146896690 missense possibly damaging 0.82
P0038:Ttll7 UTSW 3 146945184 missense possibly damaging 0.80
R0265:Ttll7 UTSW 3 146944160 nonsense probably null
R0358:Ttll7 UTSW 3 146944116 missense probably benign
R0363:Ttll7 UTSW 3 146944215 missense probably benign 0.00
R0364:Ttll7 UTSW 3 146945181 missense possibly damaging 0.82
R0751:Ttll7 UTSW 3 146939991 missense probably damaging 1.00
R1184:Ttll7 UTSW 3 146939991 missense probably damaging 1.00
R1533:Ttll7 UTSW 3 146896667 missense probably damaging 1.00
R1771:Ttll7 UTSW 3 146894405 missense probably benign 0.02
R1789:Ttll7 UTSW 3 146915780 missense probably damaging 1.00
R1961:Ttll7 UTSW 3 146915795 splice site probably benign
R1995:Ttll7 UTSW 3 146961755 missense possibly damaging 0.95
R2083:Ttll7 UTSW 3 146930104 missense possibly damaging 0.77
R2152:Ttll7 UTSW 3 146930189 missense probably damaging 1.00
R2655:Ttll7 UTSW 3 146947621 missense probably damaging 1.00
R2926:Ttll7 UTSW 3 146930415 nonsense probably null
R4888:Ttll7 UTSW 3 146894177 start codon destroyed probably null 0.99
R4999:Ttll7 UTSW 3 146894469 missense probably damaging 1.00
R5648:Ttll7 UTSW 3 146961710 missense probably damaging 1.00
R5937:Ttll7 UTSW 3 146944092 nonsense probably null
R6009:Ttll7 UTSW 3 146934535 missense probably damaging 0.99
R6036:Ttll7 UTSW 3 146940162 missense probably benign
R6036:Ttll7 UTSW 3 146940162 missense probably benign
R6463:Ttll7 UTSW 3 146931582 missense possibly damaging 0.86
R6747:Ttll7 UTSW 3 146944056 missense probably benign 0.02
R6922:Ttll7 UTSW 3 146909614 missense possibly damaging 0.92
R7123:Ttll7 UTSW 3 146913296 missense possibly damaging 0.95
R7211:Ttll7 UTSW 3 146913276 missense probably damaging 0.97
RF015:Ttll7 UTSW 3 146979658 missense probably benign 0.00
X0024:Ttll7 UTSW 3 146909553 missense probably damaging 1.00
X0026:Ttll7 UTSW 3 146961695 missense probably damaging 1.00
X0027:Ttll7 UTSW 3 146947653 missense probably damaging 1.00
Z1176:Ttll7 UTSW 3 146915771 missense not run
Z1176:Ttll7 UTSW 3 146930178 missense not run
Z1176:Ttll7 UTSW 3 146947635 missense not run
Posted On2016-08-02