Incidental Mutation 'R5992:Ttll4'
ID 480856
Institutional Source Beutler Lab
Gene Symbol Ttll4
Ensembl Gene ENSMUSG00000033257
Gene Name tubulin tyrosine ligase-like family, member 4
Synonyms 4632407P03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74700804-74740991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74724550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 573 (S573R)
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: S573R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: S573R

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: S573R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: S573R

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: ENSMUST00000145132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155753
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,549 (GRCm39) L188* probably null Het
Acod1 C T 14: 103,292,471 (GRCm39) R332C probably damaging Het
Adamts3 T A 5: 89,839,194 (GRCm39) K852M probably damaging Het
Adm A T 7: 110,226,903 (GRCm39) probably benign Het
Aff4 A G 11: 53,263,837 (GRCm39) S286G probably damaging Het
Ank2 A G 3: 126,753,300 (GRCm39) probably null Het
Aqr A T 2: 113,973,530 (GRCm39) Y427* probably null Het
Arid1b C A 17: 5,045,231 (GRCm39) probably benign Het
Arpp21 T A 9: 111,972,553 (GRCm39) R259* probably null Het
Cep290 C T 10: 100,379,183 (GRCm39) A55V possibly damaging Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Clcn2 T C 16: 20,532,404 (GRCm39) E68G possibly damaging Het
Corin T A 5: 72,473,732 (GRCm39) H699L probably benign Het
Cyld T C 8: 89,459,681 (GRCm39) Y446H probably damaging Het
Dcst1 T A 3: 89,259,883 (GRCm39) E613V probably damaging Het
Dlk1 T C 12: 109,421,507 (GRCm39) C74R probably damaging Het
Dnah12 A C 14: 26,418,496 (GRCm39) K128T probably benign Het
Dspp T A 5: 104,326,317 (GRCm39) S893R unknown Het
Dtl A T 1: 191,300,684 (GRCm39) probably null Het
F2rl1 T A 13: 95,650,778 (GRCm39) S35C probably benign Het
Fcgbp A T 7: 27,819,959 (GRCm39) Y2562F probably benign Het
Fgf10 A T 13: 118,852,044 (GRCm39) D42V probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm21190 T A 5: 15,729,849 (GRCm39) E256D probably damaging Het
Gm5157 A G 7: 20,919,346 (GRCm39) S66P probably damaging Het
Hal T G 10: 93,326,778 (GRCm39) L138R probably damaging Het
Hsd17b3 T C 13: 64,207,284 (GRCm39) probably null Het
Lrrc37 A T 11: 103,504,618 (GRCm39) M2450K possibly damaging Het
Lrsam1 T C 2: 32,845,234 (GRCm39) T94A probably benign Het
Macc1 T C 12: 119,411,320 (GRCm39) V696A probably damaging Het
Magi2 G A 5: 19,432,289 (GRCm39) M1I probably null Het
Marchf7 C A 2: 60,075,564 (GRCm39) N674K probably benign Het
Mfap1b A G 2: 121,300,776 (GRCm39) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm39) S40L probably benign Het
Ndufs2 A T 1: 171,063,987 (GRCm39) V386E probably damaging Het
Nfic C T 10: 81,256,581 (GRCm39) A19T probably damaging Het
Nfs1 G A 2: 155,976,373 (GRCm39) R174W probably damaging Het
Nin G T 12: 70,092,298 (GRCm39) S670R possibly damaging Het
Nrxn1 T C 17: 90,930,935 (GRCm39) I754V probably benign Het
Nwd1 T C 8: 73,380,201 (GRCm39) probably null Het
Or4a39 T A 2: 89,237,223 (GRCm39) M67L probably benign Het
Or4c1 T A 2: 89,133,703 (GRCm39) T78S possibly damaging Het
Or51a6 G T 7: 102,604,216 (GRCm39) N197K probably benign Het
Pcdhgb8 A G 18: 37,896,502 (GRCm39) E524G probably damaging Het
Phlpp1 A T 1: 106,246,723 (GRCm39) R638* probably null Het
Pkmyt1 G C 17: 23,954,300 (GRCm39) W360S probably benign Het
Plxnd1 C A 6: 115,944,748 (GRCm39) probably null Het
Poldip3 A T 15: 83,013,430 (GRCm39) N322K probably damaging Het
Prmt3 A T 7: 49,478,695 (GRCm39) I419L probably benign Het
Prss36 A T 7: 127,544,002 (GRCm39) V123E probably damaging Het
Prss58 A G 6: 40,874,703 (GRCm39) I46T probably damaging Het
Rac1 T C 5: 143,492,753 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,304,220 (GRCm39) Y36C probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A T 1: 4,218,926 (GRCm39) F951L unknown Het
Rps6ka5 G T 12: 100,541,509 (GRCm39) P417T possibly damaging Het
Ryr1 A G 7: 28,767,062 (GRCm39) W2967R probably damaging Het
Sacs T A 14: 61,442,992 (GRCm39) S1679R probably damaging Het
Scn1a A C 2: 66,165,800 (GRCm39) W153G probably damaging Het
Serpinb7 A G 1: 107,373,726 (GRCm39) Y114C probably damaging Het
Son T C 16: 91,455,792 (GRCm39) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm39) V447M probably benign Het
St3gal2 T A 8: 111,696,185 (GRCm39) Y257N probably damaging Het
Tars1 A T 15: 11,397,282 (GRCm39) D40E probably damaging Het
Tlr3 T C 8: 45,850,851 (GRCm39) H158R probably benign Het
Tppp2 G T 14: 52,156,392 (GRCm39) V50L probably benign Het
Trrap T C 5: 144,746,994 (GRCm39) S1503P probably benign Het
Vmn2r104 A T 17: 20,249,747 (GRCm39) N841K probably damaging Het
Vmn2r3 A T 3: 64,167,068 (GRCm39) C688S probably damaging Het
Vps16 T C 2: 130,266,369 (GRCm39) probably null Het
Zfp608 G A 18: 55,032,320 (GRCm39) T540I probably benign Het
Zfp775 G A 6: 48,596,750 (GRCm39) R208Q 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
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'- CATAACTGTAGGTAGGCTAGCTC -3'
(R):5'- CGTGTGAACTGAGCTCAAGG -3'

Sequencing Primer
(F):5'- AGCTCTAGCACTGTATGAGCTC -3'
(R):5'- TGTGAACTGAGCTCAAGGTAATAAC -3'
Posted On 2017-06-26