Incidental Mutation 'IGL01606:Ttll4'
| ID |
93432 |
| 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 |
Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
IGL01606
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74661745-74703730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74685893 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 602
(L602P)
|
| 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: L602P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: L602P
| 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 damaging
Transcript: ENSMUST00000113678
AA Change: L602P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: L602P
| 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 |
probably benign
Transcript: ENSMUST00000129890
|
| SMART Domains |
Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
A |
G |
17: 14,943,863 (GRCm38) |
D84G |
probably damaging |
Het |
| Adat3 |
A |
T |
10: 80,607,338 (GRCm38) |
I337F |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,493,849 (GRCm38) |
N128K |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,530,707 (GRCm38) |
E158G |
possibly damaging |
Het |
| Cel |
T |
C |
2: 28,560,564 (GRCm38) |
I150V |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,360,975 (GRCm38) |
H441R |
probably damaging |
Het |
| Clic5 |
G |
T |
17: 44,248,746 (GRCm38) |
R109L |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,812,640 (GRCm38) |
M466V |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 43,746,618 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,983,032 (GRCm38) |
A3106S |
probably benign |
Het |
| Fasn |
A |
C |
11: 120,809,023 (GRCm38) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,023,049 (GRCm38) |
V1688I |
probably benign |
Het |
| Fibcd1 |
A |
G |
2: 31,833,853 (GRCm38) |
I258T |
probably benign |
Het |
| Frem2 |
C |
A |
3: 53,653,591 (GRCm38) |
R1165I |
possibly damaging |
Het |
| Gm5627 |
C |
T |
9: 102,749,486 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5862 |
T |
A |
5: 26,019,516 (GRCm38) |
T152S |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,837,255 (GRCm38) |
D154V |
probably damaging |
Het |
| Ighv1-14 |
T |
C |
12: 114,646,837 (GRCm38) |
|
noncoding transcript |
Het |
| Klrb1 |
C |
A |
6: 128,723,005 (GRCm38) |
E14D |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,756,214 (GRCm38) |
D556E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,576,523 (GRCm38) |
V2330A |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,817,700 (GRCm38) |
K1345R |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,158,001 (GRCm38) |
F1756L |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,430,371 (GRCm38) |
S139A |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,808,481 (GRCm38) |
I395N |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 18,107,687 (GRCm38) |
E426G |
probably damaging |
Het |
| Rtp4 |
T |
A |
16: 23,613,254 (GRCm38) |
S179T |
probably benign |
Het |
| Sh3pxd2a |
C |
A |
19: 47,268,596 (GRCm38) |
R561L |
probably benign |
Het |
| Slc29a2 |
T |
A |
19: 5,027,439 (GRCm38) |
L215Q |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 34,929,018 (GRCm38) |
F653L |
probably damaging |
Het |
| Sulf1 |
G |
T |
1: 12,836,204 (GRCm38) |
R490L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,776,790 (GRCm38) |
V17963A |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,760,459 (GRCm38) |
S1760P |
probably damaging |
Het |
| Zmynd11 |
G |
A |
13: 9,697,688 (GRCm38) |
R149W |
probably damaging |
Het |
|
| Other mutations in Ttll4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9145:Ttll4
|
UTSW |
1 |
74,679,790 (GRCm38) |
missense |
probably benign |
0.02 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation