Incidental Mutation 'R8407:Ttll8'
| ID |
652497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll8
|
| Ensembl Gene |
ENSMUSG00000022388 |
| Gene Name |
tubulin tyrosine ligase-like family, member 8 |
| Synonyms |
1700019P01Rik |
| MMRRC Submission |
067814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R8407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88798741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 665
(V665I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
| AlphaFold |
A4Q9F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109371
AA Change: V665I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: V665I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
324 |
621 |
3.9e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177180
|
| SMART Domains |
Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177254
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
T |
C |
11: 100,384,897 (GRCm39) |
I629V |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,937,475 (GRCm39) |
|
probably null |
Het |
| BC048562 |
T |
A |
9: 108,315,631 (GRCm39) |
S12R |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,098,755 (GRCm39) |
Q310* |
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,706,256 (GRCm39) |
E913G |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,190,446 (GRCm39) |
S189G |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,181,898 (GRCm39) |
P336T |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,033,154 (GRCm39) |
S288P |
probably benign |
Het |
| Cst13 |
T |
C |
2: 148,665,124 (GRCm39) |
S40P |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,158 (GRCm39) |
D374V |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,318 (GRCm39) |
T37A |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,350,104 (GRCm39) |
N2343S |
probably benign |
Het |
| Emp3 |
G |
A |
7: 45,569,445 (GRCm39) |
P32L |
probably damaging |
Het |
| Esyt1 |
G |
T |
10: 128,347,796 (GRCm39) |
L965M |
probably damaging |
Het |
| Fbxw28 |
T |
A |
9: 109,155,269 (GRCm39) |
I406L |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,851,938 (GRCm39) |
T7A |
possibly damaging |
Het |
| Frs3 |
A |
T |
17: 48,009,552 (GRCm39) |
D11V |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,057 (GRCm39) |
S287P |
probably benign |
Het |
| Glyctk |
C |
T |
9: 106,033,141 (GRCm39) |
A291T |
probably benign |
Het |
| H2bc12 |
G |
T |
13: 22,220,217 (GRCm39) |
G54V |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,603,119 (GRCm39) |
F629I |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,212,101 (GRCm39) |
A633E |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,488 (GRCm39) |
N929S |
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,484,736 (GRCm39) |
K86R |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lmod1 |
C |
A |
1: 135,292,734 (GRCm39) |
P530T |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,763 (GRCm39) |
K206R |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,748,251 (GRCm39) |
S14T |
probably benign |
Het |
| Map3k6 |
T |
A |
4: 132,974,904 (GRCm39) |
Y646N |
possibly damaging |
Het |
| Mapk14 |
G |
A |
17: 28,963,983 (GRCm39) |
V290I |
probably benign |
Het |
| Mrpl22 |
C |
A |
11: 58,066,156 (GRCm39) |
Y83* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,201,388 (GRCm39) |
N104D |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,554,683 (GRCm39) |
M903L |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,047 (GRCm39) |
Q763* |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,437 (GRCm39) |
Y34S |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,373,051 (GRCm39) |
D306G |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,076,042 (GRCm39) |
|
probably null |
Het |
| Prelid1 |
T |
A |
13: 55,470,672 (GRCm39) |
H33Q |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,352,673 (GRCm39) |
A485T |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,662,057 (GRCm39) |
E1169G |
probably null |
Het |
| Rps19 |
C |
A |
7: 24,588,517 (GRCm39) |
T181K |
unknown |
Het |
| Skic2 |
G |
A |
17: 35,060,103 (GRCm39) |
A889V |
probably benign |
Het |
| Slc22a3 |
A |
C |
17: 12,640,368 (GRCm39) |
C538G |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,356,787 (GRCm39) |
F149Y |
possibly damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,640,554 (GRCm39) |
I516M |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,318,190 (GRCm39) |
W601R |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,143,589 (GRCm39) |
S369P |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,459,221 (GRCm39) |
E70K |
probably damaging |
Het |
| Ticam2 |
A |
G |
18: 46,693,590 (GRCm39) |
S166P |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,652,272 (GRCm39) |
S138P |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,101 (GRCm39) |
V608A |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,451,352 (GRCm39) |
V149A |
possibly damaging |
Het |
|
| Other mutations in Ttll8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Ttll8
|
APN |
15 |
88,798,356 (GRCm39) |
missense |
probably benign |
|
|
IGL00895:Ttll8
|
APN |
15 |
88,817,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Ttll8
|
APN |
15 |
88,801,453 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01661:Ttll8
|
APN |
15 |
88,820,202 (GRCm39) |
splice site |
probably benign |
|
|
IGL01992:Ttll8
|
APN |
15 |
88,799,848 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02212:Ttll8
|
APN |
15 |
88,801,450 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02234:Ttll8
|
APN |
15 |
88,798,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02569:Ttll8
|
APN |
15 |
88,818,129 (GRCm39) |
nonsense |
probably null |
|
|
IGL02935:Ttll8
|
APN |
15 |
88,798,759 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03064:Ttll8
|
APN |
15 |
88,803,797 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0969:Ttll8
|
UTSW |
15 |
88,818,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Ttll8
|
UTSW |
15 |
88,798,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1939:Ttll8
|
UTSW |
15 |
88,799,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Ttll8
|
UTSW |
15 |
88,798,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Ttll8
|
UTSW |
15 |
88,798,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ttll8
|
UTSW |
15 |
88,818,156 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2414:Ttll8
|
UTSW |
15 |
88,820,336 (GRCm39) |
splice site |
probably benign |
|
|
R2905:Ttll8
|
UTSW |
15 |
88,798,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4159:Ttll8
|
UTSW |
15 |
88,801,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4368:Ttll8
|
UTSW |
15 |
88,798,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4395:Ttll8
|
UTSW |
15 |
88,799,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4707:Ttll8
|
UTSW |
15 |
88,801,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4926:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4983:Ttll8
|
UTSW |
15 |
88,809,785 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5698:Ttll8
|
UTSW |
15 |
88,823,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5752:Ttll8
|
UTSW |
15 |
88,816,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Ttll8
|
UTSW |
15 |
88,801,449 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5889:Ttll8
|
UTSW |
15 |
88,818,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Ttll8
|
UTSW |
15 |
88,798,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6931:Ttll8
|
UTSW |
15 |
88,798,507 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7133:Ttll8
|
UTSW |
15 |
88,799,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7268:Ttll8
|
UTSW |
15 |
88,819,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Ttll8
|
UTSW |
15 |
88,801,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7502:Ttll8
|
UTSW |
15 |
88,817,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7580:Ttll8
|
UTSW |
15 |
88,818,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7978:Ttll8
|
UTSW |
15 |
88,799,565 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8074:Ttll8
|
UTSW |
15 |
88,799,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Ttll8
|
UTSW |
15 |
88,798,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8901:Ttll8
|
UTSW |
15 |
88,818,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ttll8
|
UTSW |
15 |
88,798,818 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9443:Ttll8
|
UTSW |
15 |
88,809,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0058:Ttll8
|
UTSW |
15 |
88,801,333 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATGGGCTTTGCTCGAC -3'
(R):5'- AAGCTGCTGAAGTATGGCGG -3'
Sequencing Primer
(F):5'- ATGGGCTTTGCTCGACCTCTG -3'
(R):5'- TGAAGTATGGCGGGCGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation