Incidental Mutation 'R3832:Ttll4'
ID 274036
Institutional Source Beutler Lab
Gene Symbol Ttll4
Ensembl Gene ENSMUSG00000033257
Gene Name tubulin tyrosine ligase-like family, member 4
Synonyms 4632407P03Rik
MMRRC Submission 040887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R3832 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74700804-74740991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74725550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 653 (K653E)
Ref Sequence ENSEMBL: ENSMUSP00000037406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042125] [ENSMUST00000113678] [ENSMUST00000129890] [ENSMUST00000141119]
AlphaFold Q80UG8
Predicted Effect probably damaging
Transcript: ENSMUST00000042125
AA Change: K653E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: K653E

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 probably damaging
Transcript: ENSMUST00000113678
AA Change: K653E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: K653E

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 probably benign
Transcript: ENSMUST00000129890
SMART Domains Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257

DomainStartEndE-ValueType
low complexity region 69 101 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: ENSMUST00000155753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145132
Meta Mutation Damage Score 0.8464 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (54/55)
Allele List at MGI

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

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Aldh1a7 T C 19: 20,685,602 (GRCm39) Y316C probably damaging Het
Arhgef38 T C 3: 132,912,686 (GRCm39) R118G possibly damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cblc T C 7: 19,526,097 (GRCm39) M238V probably damaging Het
Ccdc3 A G 2: 5,233,953 (GRCm39) N259S probably benign Het
Cep55 A G 19: 38,041,560 (GRCm39) probably benign Het
Col6a1 T C 10: 76,546,951 (GRCm39) D757G unknown Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Erich3 G A 3: 154,467,998 (GRCm39) V817M probably damaging Het
Gdf6 T C 4: 9,844,568 (GRCm39) S31P probably benign Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klhl28 C A 12: 64,998,195 (GRCm39) G433V probably damaging Het
Lipn T C 19: 34,046,933 (GRCm39) probably null Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Or14c44 A T 7: 86,062,401 (GRCm39) Y277F probably damaging Het
Or14j5 T C 17: 38,162,071 (GRCm39) V196A probably benign Het
Otud1 G C 2: 19,662,951 (GRCm39) A27P possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pdzd7 A T 19: 45,028,693 (GRCm39) V150E probably damaging Het
Peak1 T C 9: 56,165,667 (GRCm39) S754G probably benign Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Phlpp1 G A 1: 106,320,327 (GRCm39) E1441K probably damaging Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pikfyve G A 1: 65,283,579 (GRCm39) V739I probably damaging Het
Plcg1 T G 2: 160,596,357 (GRCm39) M651R possibly damaging Het
Prex2 T C 1: 11,226,588 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Rab11fip1 G A 8: 27,642,774 (GRCm39) T675I probably benign Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Slc39a8 T A 3: 135,554,894 (GRCm39) C113S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,292 (GRCm39) S182G probably damaging Het
Tecta A C 9: 42,250,329 (GRCm39) F1816C probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Trim47 T C 11: 115,998,783 (GRCm39) T279A probably benign Het
Vcam1 T C 3: 115,908,140 (GRCm39) T641A possibly damaging Het
Vmn1r16 A G 6: 57,300,212 (GRCm39) F137L probably benign Het
Vmn2r17 T A 5: 109,576,262 (GRCm39) W378R probably damaging Het
Zfp777 T C 6: 48,021,149 (GRCm39) T158A probably benign Het
Zp1 T C 19: 10,893,888 (GRCm39) D439G probably damaging Het
Other mutations in Ttll4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Ttll4 APN 1 74,725,052 (GRCm39) missense probably damaging 1.00
IGL01743:Ttll4 APN 1 74,727,352 (GRCm39) missense possibly damaging 0.63
IGL01914:Ttll4 APN 1 74,718,217 (GRCm39) missense probably benign 0.01
IGL02288:Ttll4 APN 1 74,718,560 (GRCm39) missense probably benign 0.05
IGL02621:Ttll4 APN 1 74,726,643 (GRCm39) missense probably damaging 1.00
IGL02662:Ttll4 APN 1 74,726,390 (GRCm39) splice site probably null
IGL02890:Ttll4 APN 1 74,726,498 (GRCm39) nonsense probably null
IGL02937:Ttll4 APN 1 74,718,662 (GRCm39) missense possibly damaging 0.92
IGL03178:Ttll4 APN 1 74,719,567 (GRCm39) missense probably damaging 0.96
IGL03412:Ttll4 APN 1 74,726,480 (GRCm39) missense probably benign 0.28
1mM(1):Ttll4 UTSW 1 74,729,139 (GRCm39) missense probably null 1.00
R0083:Ttll4 UTSW 1 74,718,928 (GRCm39) missense probably benign 0.13
R0108:Ttll4 UTSW 1 74,718,928 (GRCm39) missense probably benign 0.13
R0135:Ttll4 UTSW 1 74,719,087 (GRCm39) missense possibly damaging 0.86
R0137:Ttll4 UTSW 1 74,718,851 (GRCm39) missense possibly damaging 0.74
R0306:Ttll4 UTSW 1 74,735,916 (GRCm39) missense probably benign 0.28
R0506:Ttll4 UTSW 1 74,727,777 (GRCm39) missense probably benign 0.06
R0555:Ttll4 UTSW 1 74,727,439 (GRCm39) missense probably damaging 1.00
R1617:Ttll4 UTSW 1 74,718,560 (GRCm39) missense probably benign 0.05
R1649:Ttll4 UTSW 1 74,736,629 (GRCm39) missense possibly damaging 0.52
R1793:Ttll4 UTSW 1 74,726,999 (GRCm39) missense possibly damaging 0.91
R1898:Ttll4 UTSW 1 74,736,641 (GRCm39) missense probably benign 0.01
R1952:Ttll4 UTSW 1 74,726,718 (GRCm39) missense probably damaging 0.99
R1987:Ttll4 UTSW 1 74,724,527 (GRCm39) missense possibly damaging 0.81
R1989:Ttll4 UTSW 1 74,724,527 (GRCm39) missense possibly damaging 0.81
R2067:Ttll4 UTSW 1 74,719,541 (GRCm39) missense possibly damaging 0.94
R2162:Ttll4 UTSW 1 74,725,550 (GRCm39) missense probably damaging 1.00
R2185:Ttll4 UTSW 1 74,718,988 (GRCm39) missense possibly damaging 0.54
R2875:Ttll4 UTSW 1 74,725,597 (GRCm39) splice site probably null
R2876:Ttll4 UTSW 1 74,725,597 (GRCm39) splice site probably null
R2895:Ttll4 UTSW 1 74,724,517 (GRCm39) missense possibly damaging 0.92
R2896:Ttll4 UTSW 1 74,724,517 (GRCm39) missense possibly damaging 0.92
R3157:Ttll4 UTSW 1 74,736,770 (GRCm39) missense possibly damaging 0.81
R4707:Ttll4 UTSW 1 74,718,166 (GRCm39) missense possibly damaging 0.62
R4784:Ttll4 UTSW 1 74,718,166 (GRCm39) missense possibly damaging 0.62
R4785:Ttll4 UTSW 1 74,718,166 (GRCm39) missense possibly damaging 0.62
R5176:Ttll4 UTSW 1 74,718,445 (GRCm39) missense probably damaging 0.99
R5202:Ttll4 UTSW 1 74,727,011 (GRCm39) critical splice donor site probably null
R5244:Ttll4 UTSW 1 74,735,607 (GRCm39) missense probably benign 0.30
R5264:Ttll4 UTSW 1 74,725,535 (GRCm39) missense possibly damaging 0.92
R5452:Ttll4 UTSW 1 74,718,480 (GRCm39) missense probably benign 0.06
R5992:Ttll4 UTSW 1 74,724,550 (GRCm39) missense probably damaging 1.00
R6111:Ttll4 UTSW 1 74,736,698 (GRCm39) missense possibly damaging 0.95
R6722:Ttll4 UTSW 1 74,720,948 (GRCm39) missense possibly damaging 0.95
R6776:Ttll4 UTSW 1 74,720,512 (GRCm39) missense probably damaging 1.00
R6815:Ttll4 UTSW 1 74,718,508 (GRCm39) missense possibly damaging 0.89
R6836:Ttll4 UTSW 1 74,728,572 (GRCm39) missense probably damaging 0.98
R6963:Ttll4 UTSW 1 74,720,975 (GRCm39) missense probably damaging 1.00
R7271:Ttll4 UTSW 1 74,727,820 (GRCm39) missense possibly damaging 0.83
R7508:Ttll4 UTSW 1 74,726,418 (GRCm39) missense possibly damaging 0.81
R7714:Ttll4 UTSW 1 74,718,572 (GRCm39) missense probably benign 0.00
R7837:Ttll4 UTSW 1 74,720,916 (GRCm39) critical splice acceptor site probably null
R8032:Ttll4 UTSW 1 74,735,632 (GRCm39) missense possibly damaging 0.82
R8036:Ttll4 UTSW 1 74,718,389 (GRCm39) missense probably benign 0.02
R8115:Ttll4 UTSW 1 74,726,489 (GRCm39) nonsense probably null
R8949:Ttll4 UTSW 1 74,720,975 (GRCm39) missense probably damaging 0.99
R9145:Ttll4 UTSW 1 74,718,949 (GRCm39) missense probably benign 0.02
R9156:Ttll4 UTSW 1 74,719,225 (GRCm39) missense probably benign 0.00
R9329:Ttll4 UTSW 1 74,725,121 (GRCm39) missense possibly damaging 0.85
R9701:Ttll4 UTSW 1 74,720,482 (GRCm39) missense probably benign 0.07
R9802:Ttll4 UTSW 1 74,720,482 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGAGGAGCACATTGTTCTGG -3'
(R):5'- GCCTCTCAAGAAATGGCAAC -3'

Sequencing Primer
(F):5'- ATCCTAAGGCCTCATGTAGGG -3'
(R):5'- TGGCAACAGGACCCACTTTG -3'
Posted On 2015-04-02