Incidental Mutation 'IGL03412:Ttll4'
| ID |
421847 |
| 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: 0.217)
|
| Stock # |
IGL03412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74726480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 693
(I693V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: I693V
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: I693V
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
| Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
| Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
| Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
| Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,731,840 (GRCm39) |
R54G |
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,248,763 (GRCm39) |
D1143N |
probably damaging |
Het |
| Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
| Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
| Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
| Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,398,927 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
| Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
| Plcz1 |
A |
C |
6: 139,961,823 (GRCm39) |
Y243D |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
| Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,074 (GRCm39) |
M634L |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
| Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation