Incidental Mutation 'IGL03178:Ttll4'
| ID |
412070 |
| 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 # |
IGL03178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74719567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 25
(P25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: P473S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: P473S
| 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
AA Change: P473S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: P473S
| 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 damaging
Transcript: ENSMUST00000129890
AA Change: P38S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257
AA Change: P38S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141119
AA Change: P25S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257
AA Change: P25S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143925
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
A |
G |
5: 34,771,589 (GRCm39) |
|
probably null |
Het |
| Afg2a |
T |
C |
3: 37,632,932 (GRCm39) |
L846P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,870 (GRCm39) |
L711* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,488,973 (GRCm39) |
W1291R |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,271,739 (GRCm39) |
V545A |
possibly damaging |
Het |
| Best3 |
A |
G |
10: 116,824,684 (GRCm39) |
Y50C |
probably damaging |
Het |
| C1qtnf2 |
C |
A |
11: 43,381,816 (GRCm39) |
D179E |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,723,985 (GRCm39) |
S268T |
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,747,517 (GRCm39) |
G505R |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,696,877 (GRCm39) |
N683K |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,051,556 (GRCm39) |
I767N |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,858,211 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,506,525 (GRCm39) |
N201D |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,429,154 (GRCm39) |
Y9* |
probably null |
Het |
| Ect2 |
T |
A |
3: 27,203,009 (GRCm39) |
I79L |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,344,997 (GRCm39) |
I550N |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,729,402 (GRCm39) |
M476L |
probably benign |
Het |
| Gm20425 |
A |
G |
9: 103,087,751 (GRCm39) |
Y654H |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,622,690 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c6 |
A |
T |
10: 40,125,718 (GRCm39) |
D166E |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,237 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
A |
G |
4: 124,679,047 (GRCm39) |
T485A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,709,848 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
C |
11: 82,680,548 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,166,696 (GRCm39) |
Y1047* |
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,853 (GRCm39) |
E281G |
possibly damaging |
Het |
| Mmel1 |
A |
G |
4: 154,975,311 (GRCm39) |
T431A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,590,239 (GRCm39) |
V58A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,194,231 (GRCm39) |
H14L |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,462,181 (GRCm39) |
V594M |
probably damaging |
Het |
| Nr4a2 |
G |
A |
2: 57,000,778 (GRCm39) |
R226C |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,361,202 (GRCm39) |
L21P |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,817 (GRCm39) |
D89G |
possibly damaging |
Het |
| Pate12 |
T |
G |
9: 36,344,132 (GRCm39) |
S38R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,118 (GRCm39) |
I1371N |
probably damaging |
Het |
| Pramel29 |
A |
G |
4: 143,934,821 (GRCm39) |
|
probably null |
Het |
| Proser3 |
G |
A |
7: 30,243,034 (GRCm39) |
A181V |
probably damaging |
Het |
| Pudp |
A |
T |
18: 50,701,472 (GRCm39) |
L87Q |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,008,163 (GRCm39) |
S559P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,756 (GRCm39) |
H85R |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,101,588 (GRCm39) |
D15G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,239,886 (GRCm39) |
A1899V |
unknown |
Het |
| Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,211 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,869,446 (GRCm39) |
C2650F |
probably damaging |
Het |
| Wdr83os |
T |
C |
8: 85,807,870 (GRCm39) |
L40P |
probably damaging |
Het |
| Zfp977 |
T |
C |
7: 42,232,072 (GRCm39) |
R64G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation