Incidental Mutation 'R0364:Ttll7'
ID 30223
Institutional Source Beutler Lab
Gene Symbol Ttll7
Ensembl Gene ENSMUSG00000036745
Gene Name tubulin tyrosine ligase-like family, member 7
Synonyms 1110049N09Rik, 4921517B04Rik
MMRRC Submission 038570-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R0364 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146558122-146689764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146650936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 719 (R719S)
Ref Sequence ENSEMBL: ENSMUSP00000043753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037942] [ENSMUST00000106134] [ENSMUST00000170055]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037942
AA Change: R719S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
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 possibly damaging
Transcript: ENSMUST00000106134
AA Change: R694S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: R694S

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 possibly damaging
Transcript: ENSMUST00000170055
AA Change: R699S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: R699S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197547
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Arhgef12 A T 9: 42,929,697 (GRCm39) N199K probably damaging Het
Arpc2 A G 1: 74,276,046 (GRCm39) N26S probably null Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc178 C T 18: 22,048,119 (GRCm39) R757H probably damaging Het
Cfap52 A C 11: 67,844,436 (GRCm39) I93S possibly damaging Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dnah12 A G 14: 26,445,628 (GRCm39) T730A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,221,097 (GRCm39) probably benign Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fbxw17 T C 13: 50,586,477 (GRCm39) S40P possibly damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Fyb1 A G 15: 6,610,272 (GRCm39) K282E probably damaging Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,594 (GRCm39) Y628C probably damaging Het
Hexa A G 9: 59,471,218 (GRCm39) N491D probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hpx G T 7: 105,245,471 (GRCm39) Q101K probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b A T 8: 82,723,943 (GRCm39) T492S probably benign Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Itga9 A G 9: 118,670,210 (GRCm39) T177A probably benign Het
Itpkc A C 7: 26,927,174 (GRCm39) S247A possibly damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Kiz T G 2: 146,784,076 (GRCm39) S536R probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Kprp A T 3: 92,731,642 (GRCm39) Y469* probably null Het
Ksr1 A T 11: 78,919,851 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Ltf A T 9: 110,854,235 (GRCm39) N350I probably benign Het
Msl3l2 G A 10: 55,991,947 (GRCm39) R224Q possibly damaging Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Necap1 A G 6: 122,857,728 (GRCm39) probably benign Het
Nf1 A T 11: 79,332,783 (GRCm39) K810* probably null Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or7g32 G A 9: 19,389,268 (GRCm39) Q90* probably null Het
Or8b40 A G 9: 38,027,325 (GRCm39) T78A probably benign Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Pcdhb17 C A 18: 37,618,888 (GRCm39) A226E possibly damaging Het
Phldb1 A T 9: 44,610,632 (GRCm39) probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Prr14 G A 7: 127,073,751 (GRCm39) R205H probably benign Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rusf1 C T 7: 127,889,786 (GRCm39) R1H probably damaging Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Slc7a5 A G 8: 122,611,754 (GRCm39) F425L probably benign Het
Slk T A 19: 47,608,628 (GRCm39) L527* probably null Het
Stpg4 T A 17: 87,697,142 (GRCm39) probably null Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tas2r123 T A 6: 132,824,644 (GRCm39) S180R probably benign Het
Tmc2 C T 2: 130,044,023 (GRCm39) R86W probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz1 A T 18: 84,034,249 (GRCm39) I53N probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vps39 T G 2: 120,176,119 (GRCm39) K76T probably damaging Het
Whamm A G 7: 81,243,799 (GRCm39) T674A probably benign Het
Zbtb16 A G 9: 48,654,876 (GRCm39) probably benign Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in Ttll7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ttll7 APN 3 146,615,337 (GRCm39) missense possibly damaging 0.72
IGL01353:Ttll7 APN 3 146,667,474 (GRCm39) missense probably damaging 1.00
IGL01415:Ttll7 APN 3 146,615,354 (GRCm39) missense possibly damaging 0.90
IGL01843:Ttll7 APN 3 146,645,776 (GRCm39) missense possibly damaging 0.93
IGL03101:Ttll7 APN 3 146,602,445 (GRCm39) missense possibly damaging 0.82
IGL03378:Ttll7 APN 3 146,615,408 (GRCm39) missense probably benign 0.06
P0038:Ttll7 UTSW 3 146,650,939 (GRCm39) missense possibly damaging 0.80
R0265:Ttll7 UTSW 3 146,649,915 (GRCm39) nonsense probably null
R0358:Ttll7 UTSW 3 146,649,871 (GRCm39) missense probably benign
R0363:Ttll7 UTSW 3 146,649,970 (GRCm39) missense probably benign 0.00
R0751:Ttll7 UTSW 3 146,645,746 (GRCm39) missense probably damaging 1.00
R1184:Ttll7 UTSW 3 146,645,746 (GRCm39) missense probably damaging 1.00
R1533:Ttll7 UTSW 3 146,602,422 (GRCm39) missense probably damaging 1.00
R1771:Ttll7 UTSW 3 146,600,160 (GRCm39) missense probably benign 0.02
R1789:Ttll7 UTSW 3 146,621,535 (GRCm39) missense probably damaging 1.00
R1961:Ttll7 UTSW 3 146,621,550 (GRCm39) splice site probably benign
R1995:Ttll7 UTSW 3 146,667,510 (GRCm39) missense possibly damaging 0.95
R2083:Ttll7 UTSW 3 146,635,859 (GRCm39) missense possibly damaging 0.77
R2152:Ttll7 UTSW 3 146,635,944 (GRCm39) missense probably damaging 1.00
R2655:Ttll7 UTSW 3 146,653,376 (GRCm39) missense probably damaging 1.00
R2926:Ttll7 UTSW 3 146,636,170 (GRCm39) nonsense probably null
R4888:Ttll7 UTSW 3 146,599,932 (GRCm39) start codon destroyed probably null 0.99
R4999:Ttll7 UTSW 3 146,600,224 (GRCm39) missense probably damaging 1.00
R5648:Ttll7 UTSW 3 146,667,465 (GRCm39) missense probably damaging 1.00
R5937:Ttll7 UTSW 3 146,649,847 (GRCm39) nonsense probably null
R6009:Ttll7 UTSW 3 146,640,290 (GRCm39) missense probably damaging 0.99
R6036:Ttll7 UTSW 3 146,645,917 (GRCm39) missense probably benign
R6036:Ttll7 UTSW 3 146,645,917 (GRCm39) missense probably benign
R6463:Ttll7 UTSW 3 146,637,337 (GRCm39) missense possibly damaging 0.86
R6747:Ttll7 UTSW 3 146,649,811 (GRCm39) missense probably benign 0.02
R6922:Ttll7 UTSW 3 146,615,369 (GRCm39) missense possibly damaging 0.92
R7123:Ttll7 UTSW 3 146,619,051 (GRCm39) missense possibly damaging 0.95
R7211:Ttll7 UTSW 3 146,619,031 (GRCm39) missense probably damaging 0.97
R8229:Ttll7 UTSW 3 146,607,204 (GRCm39) missense probably damaging 0.99
R8406:Ttll7 UTSW 3 146,645,779 (GRCm39) missense probably benign
R9343:Ttll7 UTSW 3 146,667,497 (GRCm39) missense probably damaging 1.00
R9348:Ttll7 UTSW 3 146,673,768 (GRCm39) missense probably benign 0.31
R9629:Ttll7 UTSW 3 146,621,487 (GRCm39) missense probably damaging 1.00
RF015:Ttll7 UTSW 3 146,685,413 (GRCm39) missense probably benign 0.00
X0024:Ttll7 UTSW 3 146,615,308 (GRCm39) missense probably damaging 1.00
X0026:Ttll7 UTSW 3 146,667,450 (GRCm39) missense probably damaging 1.00
X0027:Ttll7 UTSW 3 146,653,408 (GRCm39) missense probably damaging 1.00
Z1176:Ttll7 UTSW 3 146,653,390 (GRCm39) missense probably damaging 1.00
Z1176:Ttll7 UTSW 3 146,635,933 (GRCm39) missense probably benign 0.01
Z1176:Ttll7 UTSW 3 146,621,526 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAATCCAAGAATCGGTGGCAAG -3'
(R):5'- GGCTCAGGAAGGGTTTTACCAACAG -3'

Sequencing Primer
(F):5'- GGTAATGTTTATATCCCGAGCAAG -3'
(R):5'- GGAAGGGTTTTACCAACAGATCTATC -3'
Posted On 2013-04-24