Incidental Mutation 'R9145:Ttll4'
ID 694533
Institutional Source Beutler Lab
Gene Symbol Ttll4
Ensembl Gene ENSMUSG00000033257
Gene Name tubulin tyrosine ligase-like family, member 4
Synonyms 4632407P03Rik
MMRRC Submission
Accession Numbers

Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125

Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R9145 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74661745-74703730 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74679790 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 267 (K267E)
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: K267E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: K267E

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: K267E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: K267E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
Allele List at MGI

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

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,559,069 (GRCm38) H720L probably benign Het
Abca15 T C 7: 120,388,165 (GRCm38) Y1225H probably benign Het
Adck1 C A 12: 88,368,423 (GRCm38) N26K probably benign Het
Adcy3 A G 12: 4,195,208 (GRCm38) D382G probably damaging Het
Ahi1 T A 10: 21,000,589 (GRCm38) C800S probably benign Het
Ahnak G T 19: 9,014,923 (GRCm38) V4524L probably benign Het
Apol11a C T 15: 77,513,578 (GRCm38) A43V probably benign Het
Arid1a T C 4: 133,693,903 (GRCm38) M479V unknown Het
Atp13a2 T A 4: 140,996,745 (GRCm38) C324S probably damaging Het
C2cd2 T G 16: 97,876,286 (GRCm38) T413P probably damaging Het
Cct5 A C 15: 31,590,961 (GRCm38) D531E Het
Chst1 A T 2: 92,614,178 (GRCm38) I332F probably damaging Het
Col12a1 A T 9: 79,620,062 (GRCm38) V2662D probably benign Het
Cts3 A G 13: 61,564,986 (GRCm38) Y307H probably benign Het
D630023F18Rik G A 1: 65,121,212 (GRCm38) probably benign Het
Dhx9 A G 1: 153,461,080 (GRCm38) I807T probably damaging Het
Doxl2 C A 6: 48,975,956 (GRCm38) R272S probably benign Het
Exoc3l4 T C 12: 111,422,152 (GRCm38) L25P probably benign Het
Ggcx T A 6: 72,425,922 (GRCm38) C288S probably benign Het
Gjb3 A G 4: 127,326,347 (GRCm38) Y131H probably damaging Het
Hdhd3 A G 4: 62,499,337 (GRCm38) S201P probably benign Het
Helz2 A T 2: 181,240,055 (GRCm38) V315E probably damaging Het
Hsp90aa1 A G 12: 110,696,250 (GRCm38) probably null Het
Il12a C T 3: 68,691,542 (GRCm38) R19W unknown Het
Isoc1 C T 18: 58,673,275 (GRCm38) A219V possibly damaging Het
Jup T A 11: 100,378,298 (GRCm38) T430S probably benign Het
Klra5 C T 6: 129,909,948 (GRCm38) C39Y probably benign Het
Map4 A T 9: 110,026,200 (GRCm38) Q131L probably damaging Het
Mau2 T A 8: 70,027,515 (GRCm38) K314M probably damaging Het
Mga A G 2: 119,964,012 (GRCm38) M2726V probably benign Het
Mgme1 G A 2: 144,272,485 (GRCm38) probably null Het
Msrb2 A G 2: 19,394,255 (GRCm38) E143G probably benign Het
Muc5b G T 7: 141,857,613 (GRCm38) C1432F unknown Het
Naglu T C 11: 101,071,114 (GRCm38) Y138H probably damaging Het
Nicn1 C T 9: 108,294,509 (GRCm38) R163C possibly damaging Het
Nlrp1b A G 11: 71,218,367 (GRCm38) Y103H probably benign Het
Nodal A G 10: 61,423,680 (GRCm38) N299D probably damaging Het
Notch1 T C 2: 26,459,575 (GRCm38) T2518A probably benign Het
Nr2e1 A C 10: 42,572,952 (GRCm38) S97A probably benign Het
Nuak1 A T 10: 84,374,723 (GRCm38) S500R probably benign Het
Nxt2 C T X: 142,237,751 (GRCm38) A118V possibly damaging Het
Nyap1 T C 5: 137,737,913 (GRCm38) E104G probably benign Het
Olfr401 C T 11: 74,121,700 (GRCm38) T137I probably benign Het
Olfr670 T A 7: 104,959,997 (GRCm38) H245L probably damaging Het
Palld T C 8: 61,877,073 (GRCm38) T257A probably benign Het
Pcnx4 C T 12: 72,556,269 (GRCm38) P435L probably damaging Het
Piezo1 T C 8: 122,482,014 (GRCm38) T2538A unknown Het
Plagl1 T C 10: 13,128,128 (GRCm38) L380P unknown Het
Polrmt G T 10: 79,740,581 (GRCm38) Q514K probably benign Het
Psg17 T G 7: 18,819,926 (GRCm38) D133A probably benign Het
Rab3b G A 4: 108,940,706 (GRCm38) D185N probably benign Het
Ranbp2 T A 10: 58,455,914 (GRCm38) S248T probably benign Het
Rdh10 C A 1: 16,129,206 (GRCm38) A212D probably damaging Het
Rinl A G 7: 28,795,664 (GRCm38) H154R Het
Selenbp1 T C 3: 94,944,103 (GRCm38) M389T probably benign Het
Serpina1c T A 12: 103,896,141 (GRCm38) H305L possibly damaging Het
Sh3rf2 T A 18: 42,149,681 (GRCm38) S467T Het
Sipa1l1 A G 12: 82,396,561 (GRCm38) D875G probably benign Het
Slc10a6 A T 5: 103,628,934 (GRCm38) V100D probably damaging Het
Slc13a4 T C 6: 35,270,355 (GRCm38) I577V possibly damaging Het
Slc20a2 T C 8: 22,540,431 (GRCm38) F168L probably benign Het
Slc25a1 A T 16: 17,927,244 (GRCm38) probably null Het
Slc5a12 A G 2: 110,640,897 (GRCm38) S495G probably benign Het
Smpdl3a A G 10: 57,800,932 (GRCm38) D42G possibly damaging Het
Spag16 G C 1: 70,381,300 (GRCm38) L482F probably damaging Het
Susd5 G A 9: 114,096,221 (GRCm38) G391R probably damaging Het
Sync G T 4: 129,293,825 (GRCm38) A217S Het
Tha1 T A 11: 117,868,686 (GRCm38) N326Y probably damaging Het
Tjp1 A T 7: 65,302,816 (GRCm38) F1590Y probably benign Het
Tle4 T C 19: 14,468,219 (GRCm38) N221S probably benign Het
Tln1 T C 4: 43,536,024 (GRCm38) T2054A probably damaging Het
Ttc30a1 A T 2: 75,980,079 (GRCm38) Y553* probably null Het
Usp32 C T 11: 85,022,292 (GRCm38) G930D probably damaging Het
Vmn2r75 T C 7: 86,164,239 (GRCm38) N452D probably damaging Het
Vmn2r81 T C 10: 79,268,194 (GRCm38) L217P possibly damaging Het
Wnt2 T A 6: 18,030,398 (GRCm38) probably benign Het
Zfp459 C T 13: 67,408,616 (GRCm38) S116N probably benign Het
Zfp981 C A 4: 146,537,953 (GRCm38) T445N possibly damaging Het
Other mutations in Ttll4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Ttll4 APN 1 74,685,893 (GRCm38) missense probably damaging 1.00
IGL01743:Ttll4 APN 1 74,688,193 (GRCm38) missense possibly damaging 0.63
IGL01914:Ttll4 APN 1 74,679,058 (GRCm38) missense probably benign 0.01
IGL02288:Ttll4 APN 1 74,679,401 (GRCm38) missense probably benign 0.05
IGL02621:Ttll4 APN 1 74,687,484 (GRCm38) missense probably damaging 1.00
IGL02662:Ttll4 APN 1 74,687,231 (GRCm38) splice site probably null
IGL02890:Ttll4 APN 1 74,687,339 (GRCm38) nonsense probably null
IGL02937:Ttll4 APN 1 74,679,503 (GRCm38) missense possibly damaging 0.92
IGL03178:Ttll4 APN 1 74,680,408 (GRCm38) missense probably damaging 0.96
IGL03412:Ttll4 APN 1 74,687,321 (GRCm38) missense probably benign 0.28
1mM(1):Ttll4 UTSW 1 74,689,980 (GRCm38) missense probably null 1.00
R0083:Ttll4 UTSW 1 74,679,769 (GRCm38) missense probably benign 0.13
R0108:Ttll4 UTSW 1 74,679,769 (GRCm38) missense probably benign 0.13
R0135:Ttll4 UTSW 1 74,679,928 (GRCm38) missense possibly damaging 0.86
R0137:Ttll4 UTSW 1 74,679,692 (GRCm38) missense possibly damaging 0.74
R0306:Ttll4 UTSW 1 74,696,757 (GRCm38) missense probably benign 0.28
R0506:Ttll4 UTSW 1 74,688,618 (GRCm38) missense probably benign 0.06
R0555:Ttll4 UTSW 1 74,688,280 (GRCm38) missense probably damaging 1.00
R1617:Ttll4 UTSW 1 74,679,401 (GRCm38) missense probably benign 0.05
R1649:Ttll4 UTSW 1 74,697,470 (GRCm38) missense possibly damaging 0.52
R1793:Ttll4 UTSW 1 74,687,840 (GRCm38) missense possibly damaging 0.91
R1898:Ttll4 UTSW 1 74,697,482 (GRCm38) missense probably benign 0.01
R1952:Ttll4 UTSW 1 74,687,559 (GRCm38) missense probably damaging 0.99
R1987:Ttll4 UTSW 1 74,685,368 (GRCm38) missense possibly damaging 0.81
R1989:Ttll4 UTSW 1 74,685,368 (GRCm38) missense possibly damaging 0.81
R2067:Ttll4 UTSW 1 74,680,382 (GRCm38) missense possibly damaging 0.94
R2162:Ttll4 UTSW 1 74,686,391 (GRCm38) missense probably damaging 1.00
R2185:Ttll4 UTSW 1 74,679,829 (GRCm38) missense possibly damaging 0.54
R2875:Ttll4 UTSW 1 74,686,438 (GRCm38) splice site probably null
R2876:Ttll4 UTSW 1 74,686,438 (GRCm38) splice site probably null
R2895:Ttll4 UTSW 1 74,685,358 (GRCm38) missense possibly damaging 0.92
R2896:Ttll4 UTSW 1 74,685,358 (GRCm38) missense possibly damaging 0.92
R3157:Ttll4 UTSW 1 74,697,611 (GRCm38) missense possibly damaging 0.81
R3832:Ttll4 UTSW 1 74,686,391 (GRCm38) missense probably damaging 1.00
R4707:Ttll4 UTSW 1 74,679,007 (GRCm38) missense possibly damaging 0.62
R4784:Ttll4 UTSW 1 74,679,007 (GRCm38) missense possibly damaging 0.62
R4785:Ttll4 UTSW 1 74,679,007 (GRCm38) missense possibly damaging 0.62
R5176:Ttll4 UTSW 1 74,679,286 (GRCm38) missense probably damaging 0.99
R5202:Ttll4 UTSW 1 74,687,852 (GRCm38) critical splice donor site probably null
R5244:Ttll4 UTSW 1 74,696,448 (GRCm38) missense probably benign 0.30
R5264:Ttll4 UTSW 1 74,686,376 (GRCm38) missense possibly damaging 0.92
R5452:Ttll4 UTSW 1 74,679,321 (GRCm38) missense probably benign 0.06
R5992:Ttll4 UTSW 1 74,685,391 (GRCm38) missense probably damaging 1.00
R6111:Ttll4 UTSW 1 74,697,539 (GRCm38) missense possibly damaging 0.95
R6722:Ttll4 UTSW 1 74,681,789 (GRCm38) missense possibly damaging 0.95
R6776:Ttll4 UTSW 1 74,681,353 (GRCm38) missense probably damaging 1.00
R6815:Ttll4 UTSW 1 74,679,349 (GRCm38) missense possibly damaging 0.89
R6836:Ttll4 UTSW 1 74,689,413 (GRCm38) missense probably damaging 0.98
R6963:Ttll4 UTSW 1 74,681,816 (GRCm38) missense probably damaging 1.00
R7271:Ttll4 UTSW 1 74,688,661 (GRCm38) missense possibly damaging 0.83
R7508:Ttll4 UTSW 1 74,687,259 (GRCm38) missense possibly damaging 0.81
R7714:Ttll4 UTSW 1 74,679,413 (GRCm38) missense probably benign 0.00
R7837:Ttll4 UTSW 1 74,681,757 (GRCm38) critical splice acceptor site probably null
R8032:Ttll4 UTSW 1 74,696,473 (GRCm38) missense possibly damaging 0.82
R8036:Ttll4 UTSW 1 74,679,230 (GRCm38) missense probably benign 0.02
R8115:Ttll4 UTSW 1 74,687,330 (GRCm38) nonsense probably null
R8949:Ttll4 UTSW 1 74,681,816 (GRCm38) missense probably damaging 0.99
R9156:Ttll4 UTSW 1 74,680,066 (GRCm38) missense probably benign 0.00
R9329:Ttll4 UTSW 1 74,685,962 (GRCm38) missense possibly damaging 0.85
R9701:Ttll4 UTSW 1 74,681,323 (GRCm38) missense probably benign 0.07
R9802:Ttll4 UTSW 1 74,681,323 (GRCm38) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGATTGCATCTCCACTGTCC -3'
(R):5'- CTCACAGCCTCAGTGAAGTG -3'

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