Incidental Mutation 'R9156:Ttll4'
ID 695350
Institutional Source Beutler Lab
Gene Symbol Ttll4
Ensembl Gene ENSMUSG00000033257
Gene Name tubulin tyrosine ligase-like family, member 4
Synonyms 4632407P03Rik
MMRRC Submission 068974-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R9156 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74700804-74740991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74719225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 359 (F359L)
Ref Sequence ENSEMBL: ENSMUSP00000037406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042125] [ENSMUST00000113678] [ENSMUST00000129890] [ENSMUST00000141119]
AlphaFold Q80UG8
Predicted Effect probably benign
Transcript: ENSMUST00000042125
AA Change: F359L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: F359L

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 benign
Transcript: ENSMUST00000113678
AA Change: F359L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: F359L

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 probably benign
Transcript: ENSMUST00000141119
SMART Domains Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

DomainStartEndE-ValueType
low complexity region 56 96 N/A INTRINSIC
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
Allele List at MGI

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

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,647,957 (GRCm39) L1150V probably damaging Het
AB124611 A G 9: 21,455,989 (GRCm39) D194G possibly damaging Het
Adgrv1 A G 13: 81,669,302 (GRCm39) L2418P probably benign Het
Ap3m1 A G 14: 21,090,152 (GRCm39) S213P probably damaging Het
Apobec2 A T 17: 48,739,531 (GRCm39) L36H Het
Arrb1 A G 7: 99,237,280 (GRCm39) D78G Het
Astn1 A G 1: 158,338,555 (GRCm39) Q434R probably damaging Het
Cadps C G 14: 12,705,676 (GRCm38) D240H probably damaging Het
Cfhr4 A G 1: 139,660,085 (GRCm39) I680T probably damaging Het
Cmya5 A C 13: 93,233,878 (GRCm39) D403E unknown Het
Crxos A C 7: 15,631,436 (GRCm39) I45L probably benign Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah2 A G 11: 69,313,687 (GRCm39) I4204T Het
Ei24 A G 9: 36,697,327 (GRCm39) S134P probably damaging Het
Eif2ak3 G T 6: 70,860,614 (GRCm39) V397F probably damaging Het
Eif4g2 T C 7: 110,672,969 (GRCm39) I134V Het
Fam186a A G 15: 99,841,159 (GRCm39) I1695T possibly damaging Het
Gcnt3 T C 9: 69,941,939 (GRCm39) M210V probably damaging Het
Gpatch8 A G 11: 102,370,299 (GRCm39) S1080P probably benign Het
Gtf3c1 A G 7: 125,244,949 (GRCm39) L1695P possibly damaging Het
Haus3 A G 5: 34,324,994 (GRCm39) F222L probably damaging Het
Kbtbd8 C T 6: 95,099,825 (GRCm39) Q445* probably null Het
Kcnc3 A G 7: 44,240,592 (GRCm39) N95D probably damaging Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lgi1 A G 19: 38,289,746 (GRCm39) T271A probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map3k21 A G 8: 126,665,463 (GRCm39) T551A possibly damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Mug1 C A 6: 121,851,390 (GRCm39) D762E probably damaging Het
Myo1e A T 9: 70,266,605 (GRCm39) N615I probably damaging Het
Or4k36 T C 2: 111,145,827 (GRCm39) M1T probably null Het
Or51f23 T C 7: 102,453,339 (GRCm39) L218P probably damaging Het
Pld5 T C 1: 175,803,104 (GRCm39) E387G possibly damaging Het
Pld5 A G 1: 175,902,003 (GRCm39) V195A probably benign Het
Rad54l T C 4: 115,980,349 (GRCm39) probably benign Het
Rnf123 A T 9: 107,940,227 (GRCm39) probably benign Het
Rnf213 A G 11: 119,331,574 (GRCm39) E2262G Het
Rp1 C A 1: 4,234,161 (GRCm39) V910L unknown Het
Rpp21 A T 17: 36,568,407 (GRCm39) C23S probably benign Het
Scn11a T C 9: 119,588,989 (GRCm39) M1306V possibly damaging Het
Scn2b C T 9: 45,036,734 (GRCm39) L81F possibly damaging Het
Sco2 T C 15: 89,256,363 (GRCm39) D97G probably damaging Het
Slc25a54 T C 3: 109,001,548 (GRCm39) V112A probably benign Het
Slc5a11 A T 7: 122,864,492 (GRCm39) K363* probably null Het
Smg1 G T 7: 117,753,884 (GRCm39) T2563K unknown Het
Snap47 A T 11: 59,319,290 (GRCm39) S283T probably damaging Het
Speer4a3 CTTT C 5: 26,155,857 (GRCm39) probably benign Het
Stat1 G T 1: 52,178,388 (GRCm39) R274L probably damaging Het
Stoml1 A G 9: 58,164,409 (GRCm39) T166A Het
Svs5 G T 2: 164,079,509 (GRCm39) Q133K probably benign Het
Tas2r107 T A 6: 131,636,422 (GRCm39) H209L probably benign Het
Tmco3 T A 8: 13,360,228 (GRCm39) V477D possibly damaging Het
Tmem131 A T 1: 36,880,767 (GRCm39) S168T possibly damaging Het
Tmem41a T C 16: 21,755,859 (GRCm39) N149S probably damaging Het
Ttn T A 2: 76,785,162 (GRCm39) M784L unknown Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Ubxn2b C T 4: 6,214,646 (GRCm39) P227S probably damaging Het
Upb1 C T 10: 75,265,961 (GRCm39) L263F probably benign Het
Usp15 T A 10: 122,949,553 (GRCm39) T935S probably benign Het
Zscan4-ps3 G A 7: 11,347,164 (GRCm39) C400Y 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
R3832:Ttll4 UTSW 1 74,725,550 (GRCm39) missense probably damaging 1.00
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
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'- GATGTCACTGCCCCTATCAC -3'
(R):5'- AGGAGGTGAATGCTGATCCTC -3'

Sequencing Primer
(F):5'- AGTGTTACCTCTTCCCAGTGCAG -3'
(R):5'- GCTGATCCTCTTGGTACAGAAGAC -3'
Posted On 2022-01-20