Incidental Mutation 'IGL02890:Ttll4'
ID |
363146 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.208)
|
Stock # |
IGL02890
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 74726498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 699
(K699*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
AlphaFold |
Q80UG8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042125
AA Change: K699*
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: K699*
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000140591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141119
|
SMART Domains |
Protein: ENSMUSP00000116733 Gene: ENSMUSG00000033257
Domain | Start | End | E-Value | Type |
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 |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
A |
T |
8: 41,278,190 (GRCm39) |
I194L |
probably benign |
Het |
Akirin1 |
A |
G |
4: 123,631,855 (GRCm39) |
V171A |
probably damaging |
Het |
Camk2b |
A |
T |
11: 5,951,340 (GRCm39) |
D91E |
possibly damaging |
Het |
Ccser1 |
A |
G |
6: 62,356,815 (GRCm39) |
D751G |
probably damaging |
Het |
D6Wsu163e |
G |
A |
6: 126,951,450 (GRCm39) |
G500D |
probably damaging |
Het |
Dchs1 |
G |
T |
7: 105,405,698 (GRCm39) |
D2395E |
probably damaging |
Het |
Entrep3 |
A |
T |
3: 89,094,089 (GRCm39) |
T223S |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,637,531 (GRCm39) |
|
probably null |
Het |
Galnt14 |
A |
C |
17: 73,816,519 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
C |
11: 76,102,090 (GRCm39) |
S890R |
probably damaging |
Het |
Glrp1 |
T |
A |
1: 88,437,510 (GRCm39) |
|
probably null |
Het |
Grik1 |
A |
G |
16: 87,693,690 (GRCm39) |
|
probably benign |
Het |
H2bc14 |
G |
T |
13: 21,906,356 (GRCm39) |
R30L |
probably benign |
Het |
Hspa12a |
C |
T |
19: 58,809,431 (GRCm39) |
|
probably null |
Het |
Hykk |
C |
T |
9: 54,827,995 (GRCm39) |
P78L |
probably benign |
Het |
Kctd13 |
G |
A |
7: 126,529,903 (GRCm39) |
G115R |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,206,185 (GRCm39) |
|
probably null |
Het |
Mat2a |
A |
G |
6: 72,413,229 (GRCm39) |
L167P |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,173,456 (GRCm39) |
E532G |
probably damaging |
Het |
Nrbp2 |
G |
T |
15: 75,961,306 (GRCm39) |
L272M |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,911,116 (GRCm39) |
D790G |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,368 (GRCm39) |
T18S |
probably benign |
Het |
Or5k16 |
T |
C |
16: 58,736,737 (GRCm39) |
D89G |
probably benign |
Het |
Or8g26 |
T |
C |
9: 39,095,564 (GRCm39) |
L27P |
probably damaging |
Het |
Pcdh10 |
A |
T |
3: 45,347,052 (GRCm39) |
H949L |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,269,956 (GRCm39) |
Y547C |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,431,235 (GRCm39) |
V2392D |
probably damaging |
Het |
Ppp1r3g |
A |
T |
13: 36,153,314 (GRCm39) |
T245S |
probably damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,567 (GRCm39) |
N439S |
possibly damaging |
Het |
Radil |
A |
G |
5: 142,529,463 (GRCm39) |
Y78H |
probably damaging |
Het |
Ric8b |
A |
T |
10: 84,837,731 (GRCm39) |
M513L |
possibly damaging |
Het |
Slc4a10 |
T |
C |
2: 62,117,260 (GRCm39) |
S740P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,454,478 (GRCm39) |
|
probably benign |
Het |
Smg1 |
G |
A |
7: 117,784,724 (GRCm39) |
|
probably benign |
Het |
Spef2 |
C |
T |
15: 9,748,853 (GRCm39) |
M1I |
probably null |
Het |
Tmc5 |
A |
T |
7: 118,244,653 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
C |
T |
1: 44,038,850 (GRCm39) |
A1132V |
probably damaging |
Het |
|
Other mutations in Ttll4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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 |
|
Posted On |
2015-12-18 |