Incidental Mutation 'R1987:Ttll4'
| ID |
222584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
039999-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R1987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74661745-74703730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74685368 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 566
(V566L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: V566L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: V566L
| 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: V566L
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: V566L
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 9,015,251 (GRCm38) |
D4633V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,140,795 (GRCm38) |
F1664S |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 97,967,096 (GRCm38) |
M803V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,953,985 (GRCm38) |
|
probably null |
Het |
| Bltp2 |
A |
T |
11: 78,268,167 (GRCm38) |
Q433L |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,931,045 (GRCm38) |
L130* |
probably null |
Het |
| Ccdc73 |
A |
G |
2: 104,999,159 (GRCm38) |
E1059G |
probably damaging |
Het |
| Ccer2 |
A |
C |
7: 28,757,283 (GRCm38) |
S151R |
possibly damaging |
Het |
| Cep128 |
T |
A |
12: 91,230,829 (GRCm38) |
H406L |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,597,428 (GRCm38) |
D229G |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,954,611 (GRCm38) |
D103V |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,521,996 (GRCm38) |
L301Q |
probably damaging |
Het |
| Cstdc6 |
C |
A |
16: 36,321,832 (GRCm38) |
G61C |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,258,753 (GRCm38) |
A567V |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,343,591 (GRCm38) |
I2379T |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,095,044 (GRCm38) |
Y2433C |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 107,108,421 (GRCm38) |
I85T |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,591,830 (GRCm38) |
S1380A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,886,203 (GRCm38) |
T43A |
probably benign |
Het |
| Fastkd3 |
T |
C |
13: 68,585,241 (GRCm38) |
V502A |
possibly damaging |
Het |
| Fn1 |
T |
C |
1: 71,651,625 (GRCm38) |
H59R |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,559,659 (GRCm38) |
V145A |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,370,319 (GRCm38) |
V178A |
probably damaging |
Het |
| Gnpnat1 |
T |
C |
14: 45,380,998 (GRCm38) |
R116G |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 110,914,511 (GRCm38) |
V235E |
probably damaging |
Het |
| Hdac4 |
A |
C |
1: 91,934,645 (GRCm38) |
N1002K |
probably damaging |
Het |
| Hey1 |
C |
T |
3: 8,664,897 (GRCm38) |
A167T |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,332,604 (GRCm38) |
N3383S |
unknown |
Het |
| Ints2 |
A |
T |
11: 86,217,800 (GRCm38) |
V907D |
probably benign |
Het |
| Jchain |
T |
A |
5: 88,521,467 (GRCm38) |
Q109L |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,966,024 (GRCm38) |
Y537* |
probably null |
Het |
| Klra1 |
C |
T |
6: 130,377,779 (GRCm38) |
S92N |
probably benign |
Het |
| Krt31 |
C |
T |
11: 100,049,580 (GRCm38) |
G150S |
probably benign |
Het |
| Lrrc71 |
G |
A |
3: 87,742,643 (GRCm38) |
T326M |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,870,443 (GRCm38) |
T487A |
probably benign |
Het |
| Map4k5 |
T |
G |
12: 69,842,912 (GRCm38) |
R198S |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,338,837 (GRCm38) |
C354Y |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 11,013,655 (GRCm38) |
V25E |
probably damaging |
Het |
| Mutyh |
T |
A |
4: 116,819,368 (GRCm38) |
S512R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,814,496 (GRCm38) |
A1947S |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,610,886 (GRCm38) |
D427G |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,378,056 (GRCm38) |
M767T |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,245,391 (GRCm38) |
L185P |
probably damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,888,305 (GRCm38) |
P143L |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,927,287 (GRCm38) |
M158L |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,576,592 (GRCm38) |
|
probably null |
Het |
| Plk4 |
A |
T |
3: 40,805,817 (GRCm38) |
S383C |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,643,989 (GRCm38) |
L77P |
probably damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,542,370 (GRCm38) |
T1209S |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 143,132,509 (GRCm38) |
S1404P |
possibly damaging |
Het |
| Preb |
T |
C |
5: 30,958,813 (GRCm38) |
D150G |
probably damaging |
Het |
| Prrt2 |
A |
G |
7: 127,018,730 (GRCm38) |
V59A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,558,014 (GRCm38) |
N151S |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,766,321 (GRCm38) |
V685A |
possibly damaging |
Het |
| Ptprt |
G |
T |
2: 161,558,898 (GRCm38) |
A1053D |
probably damaging |
Het |
| Rfx4 |
C |
T |
10: 84,896,088 (GRCm38) |
S549F |
possibly damaging |
Het |
| Rnaset2b |
T |
A |
17: 6,996,477 (GRCm38) |
V87E |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,441,107 (GRCm38) |
E2381K |
probably damaging |
Het |
| Sectm1a |
A |
T |
11: 121,069,680 (GRCm38) |
I103N |
probably damaging |
Het |
| Selp |
T |
A |
1: 164,142,758 (GRCm38) |
L597Q |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,300,142 (GRCm38) |
D74G |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,029,559 (GRCm38) |
V33A |
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,147,706 (GRCm38) |
T272S |
unknown |
Het |
| Sgf29 |
G |
C |
7: 126,649,477 (GRCm38) |
|
probably null |
Het |
| Slc4a10 |
C |
A |
2: 62,268,204 (GRCm38) |
Q561K |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,232 (GRCm38) |
I649T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,293,835 (GRCm38) |
Y91H |
probably damaging |
Het |
| Styxl1 |
T |
C |
5: 135,757,122 (GRCm38) |
Y23C |
probably damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,206,872 (GRCm38) |
V490A |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 24,094,732 (GRCm38) |
F133L |
probably benign |
Het |
| Tnfrsf22 |
T |
C |
7: 143,638,389 (GRCm38) |
|
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,916 (GRCm38) |
E512G |
probably damaging |
Het |
| Trgc3 |
C |
A |
13: 19,260,994 (GRCm38) |
F37L |
probably damaging |
Het |
| Ttc17 |
T |
A |
2: 94,364,345 (GRCm38) |
H561L |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 104,148,485 (GRCm38) |
Y602H |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 20,889,950 (GRCm38) |
E234D |
probably damaging |
Het |
| Wbp11 |
A |
G |
6: 136,820,585 (GRCm38) |
S279P |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,576,534 (GRCm38) |
L50P |
probably damaging |
Het |
| Zfp715 |
A |
C |
7: 43,298,649 (GRCm38) |
I629S |
possibly damaging |
Het |
|
| Other mutations in Ttll4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Ttll4
|
APN |
1 |
74,685,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGTATGAGCTCATATTTGC -3'
(R):5'- AAGTCCTCTATTGAGCCTACATCC -3'
Sequencing Primer
(F):5'- CTGTATGAGCTCATATTTGCAGAATG -3'
(R):5'- TACATCCCCGTGTGAACTGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation