Incidental Mutation 'IGL02937:Ttll4'
| ID |
364343 |
| 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 # |
IGL02937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74718662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 171
(A171D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042125
AA Change: A171D
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: A171D
| 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 |
possibly damaging
Transcript: ENSMUST00000113678
AA Change: A171D
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: A171D
| 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 |
probably benign
Transcript: ENSMUST00000141119
|
| SMART Domains |
Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,206,049 (GRCm39) |
C21Y |
probably damaging |
Het |
| 4933427D06Rik |
T |
C |
6: 89,085,127 (GRCm39) |
|
noncoding transcript |
Het |
| 5730480H06Rik |
A |
G |
5: 48,536,783 (GRCm39) |
I160V |
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,767,698 (GRCm39) |
E47K |
probably damaging |
Het |
| Arhgef12 |
T |
A |
9: 42,927,216 (GRCm39) |
S303C |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,980,284 (GRCm39) |
N644S |
probably benign |
Het |
| Cc2d1b |
A |
G |
4: 108,489,091 (GRCm39) |
E796G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,033,180 (GRCm39) |
R788L |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,179,623 (GRCm39) |
F148S |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,487,619 (GRCm39) |
M292T |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,408 (GRCm39) |
R385G |
possibly damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,844,163 (GRCm39) |
L89P |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,231 (GRCm39) |
|
probably null |
Het |
| Dhtkd1 |
A |
G |
2: 5,922,716 (GRCm39) |
I481T |
possibly damaging |
Het |
| Dlx5 |
A |
T |
6: 6,881,755 (GRCm39) |
D44E |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,464,591 (GRCm39) |
I362N |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,671,952 (GRCm39) |
I151N |
probably damaging |
Het |
| Far1 |
T |
A |
7: 113,139,855 (GRCm39) |
I101N |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,172,207 (GRCm39) |
S384P |
probably benign |
Het |
| Gnb5 |
T |
C |
9: 75,247,471 (GRCm39) |
Y247H |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,736,572 (GRCm39) |
K1940E |
probably damaging |
Het |
| Gprc5b |
A |
G |
7: 118,583,017 (GRCm39) |
V284A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,040,500 (GRCm39) |
Q737* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,314,175 (GRCm39) |
D349G |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,243,318 (GRCm39) |
T467S |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,270,819 (GRCm39) |
S128T |
possibly damaging |
Het |
| Mroh5 |
A |
G |
15: 73,661,827 (GRCm39) |
C455R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,887,186 (GRCm39) |
H1771R |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,205,840 (GRCm39) |
Y65C |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,718,056 (GRCm39) |
M61L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,310,112 (GRCm39) |
V115D |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,798 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pabpc4l |
A |
C |
3: 46,400,725 (GRCm39) |
D306E |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,079,515 (GRCm39) |
Y332N |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,193,154 (GRCm39) |
K316M |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,945,519 (GRCm39) |
|
probably benign |
Het |
| Polq |
A |
G |
16: 36,833,471 (GRCm39) |
T55A |
probably benign |
Het |
| Ppp2r5b |
T |
A |
19: 6,281,016 (GRCm39) |
K271M |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,936 (GRCm39) |
|
probably null |
Het |
| Rigi |
C |
T |
4: 40,229,661 (GRCm39) |
C86Y |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,886,351 (GRCm39) |
N175D |
probably benign |
Het |
| Slc44a3 |
A |
G |
3: 121,303,970 (GRCm39) |
|
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,736,873 (GRCm39) |
H318Y |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,004,778 (GRCm39) |
T460A |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tll1 |
A |
C |
8: 64,658,319 (GRCm39) |
Y33* |
probably null |
Het |
| Tmem59 |
A |
T |
4: 107,054,782 (GRCm39) |
T196S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,513 (GRCm39) |
T13528A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,717,621 (GRCm39) |
|
probably benign |
Het |
| Xpc |
C |
A |
6: 91,477,119 (GRCm39) |
G327W |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,132 (GRCm39) |
S109G |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,285,794 (GRCm39) |
M2328V |
probably benign |
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 |
|
|
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 |
Incidental Mutation