Incidental Mutation 'R8130:Ttll6'
ID |
631985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll6
|
Ensembl Gene |
ENSMUSG00000038756 |
Gene Name |
tubulin tyrosine ligase-like family, member 6 |
Synonyms |
t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e |
MMRRC Submission |
067559-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8130 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96047425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 675
(S675P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
AlphaFold |
A4Q9E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107680
AA Change: S571P
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: S571P
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167258
AA Change: S675P
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: S675P
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
52 |
59 |
N/A |
INTRINSIC |
Pfam:TTL
|
103 |
397 |
2.9e-90 |
PFAM |
coiled coil region
|
480 |
506 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,271 (GRCm39) |
I130M |
probably damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
Arfgef2 |
T |
A |
2: 166,678,170 (GRCm39) |
S218T |
possibly damaging |
Het |
Armc8 |
C |
T |
9: 99,433,600 (GRCm39) |
V40I |
probably benign |
Het |
Caps2 |
A |
T |
10: 112,018,381 (GRCm39) |
D177V |
probably benign |
Het |
Cdh8 |
A |
T |
8: 99,757,676 (GRCm39) |
F641I |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,596,384 (GRCm39) |
S1127G |
probably benign |
Het |
Cmtm1 |
C |
A |
8: 105,036,088 (GRCm39) |
Q180H |
unknown |
Het |
Col15a1 |
C |
T |
4: 47,312,196 (GRCm39) |
T1337I |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 76,910,284 (GRCm39) |
M555K |
probably benign |
Het |
Ctrb1 |
A |
G |
8: 112,415,823 (GRCm39) |
F89L |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,917,199 (GRCm39) |
T76A |
probably benign |
Het |
Dpep1 |
T |
C |
8: 123,926,965 (GRCm39) |
V263A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,114,358 (GRCm39) |
E1216K |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,052 (GRCm39) |
Y45C |
probably benign |
Het |
Fam186a |
CGG |
CG |
15: 99,841,914 (GRCm39) |
|
probably null |
Het |
Gcm1 |
T |
A |
9: 77,971,816 (GRCm39) |
D252E |
probably benign |
Het |
Gm11559 |
A |
G |
11: 99,755,416 (GRCm39) |
T22A |
unknown |
Het |
Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,286,859 (GRCm39) |
|
probably benign |
Het |
I830077J02Rik |
C |
T |
3: 105,834,233 (GRCm39) |
C64Y |
possibly damaging |
Het |
Igkv4-86 |
T |
C |
6: 68,887,650 (GRCm39) |
I30V |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,455,416 (GRCm39) |
I342V |
probably benign |
Het |
Kcnip3 |
C |
T |
2: 127,352,828 (GRCm39) |
A64T |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 940,658 (GRCm39) |
D1056E |
possibly damaging |
Het |
Kif19b |
C |
T |
5: 140,460,716 (GRCm39) |
R461C |
probably damaging |
Het |
Krtap19-2 |
C |
T |
16: 88,670,903 (GRCm39) |
G81R |
unknown |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,629,965 (GRCm39) |
I69N |
|
Het |
Matcap1 |
G |
A |
8: 106,012,145 (GRCm39) |
R101W |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,299,293 (GRCm39) |
D1914N |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,937,707 (GRCm39) |
Q235L |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,699,111 (GRCm39) |
K185* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,233,354 (GRCm39) |
T802A |
probably damaging |
Het |
Necab1 |
A |
T |
4: 15,005,073 (GRCm39) |
F130L |
probably damaging |
Het |
Nemf |
A |
T |
12: 69,402,826 (GRCm39) |
M70K |
possibly damaging |
Het |
Nploc4 |
A |
G |
11: 120,280,240 (GRCm39) |
I436T |
possibly damaging |
Het |
Obscn |
C |
A |
11: 59,015,439 (GRCm39) |
R1011M |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,367,825 (GRCm39) |
F270I |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,901,570 (GRCm39) |
K303E |
probably benign |
Het |
Or8k24 |
T |
A |
2: 86,215,911 (GRCm39) |
M284L |
probably benign |
Het |
Ormdl1 |
T |
A |
1: 53,338,139 (GRCm39) |
M1K |
probably null |
Het |
Pramel34 |
A |
T |
5: 93,784,597 (GRCm39) |
L289Q |
probably damaging |
Het |
Psmb3 |
A |
G |
11: 97,594,723 (GRCm39) |
D38G |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,792,026 (GRCm39) |
L1171Q |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Slc22a18 |
G |
A |
7: 143,052,911 (GRCm39) |
V379I |
probably damaging |
Het |
Speg |
T |
A |
1: 75,392,240 (GRCm39) |
F1632L |
probably damaging |
Het |
Taok1 |
G |
A |
11: 77,470,659 (GRCm39) |
R49C |
possibly damaging |
Het |
Usp8 |
A |
T |
2: 126,559,918 (GRCm39) |
|
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,110,538 (GRCm39) |
N550K |
possibly damaging |
Het |
Zfp119a |
A |
T |
17: 56,172,971 (GRCm39) |
C291S |
probably damaging |
Het |
Zfp329 |
C |
A |
7: 12,544,313 (GRCm39) |
G404C |
probably damaging |
Het |
Zfp934 |
C |
A |
13: 62,667,985 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ttll6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02152:Ttll6
|
APN |
11 |
96,026,366 (GRCm39) |
nonsense |
probably null |
|
IGL02331:Ttll6
|
APN |
11 |
96,026,573 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Ttll6
|
APN |
11 |
96,047,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02551:Ttll6
|
APN |
11 |
96,045,526 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02618:Ttll6
|
APN |
11 |
96,038,388 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02712:Ttll6
|
APN |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably benign |
|
IGL02720:Ttll6
|
APN |
11 |
96,042,899 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02839:Ttll6
|
APN |
11 |
96,049,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02974:Ttll6
|
APN |
11 |
96,047,528 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03038:Ttll6
|
APN |
11 |
96,042,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03216:Ttll6
|
APN |
11 |
96,042,840 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03271:Ttll6
|
APN |
11 |
96,047,513 (GRCm39) |
missense |
probably benign |
0.00 |
LCD18:Ttll6
|
UTSW |
11 |
96,046,084 (GRCm39) |
intron |
probably benign |
|
R0295:Ttll6
|
UTSW |
11 |
96,045,540 (GRCm39) |
missense |
probably benign |
0.09 |
R0310:Ttll6
|
UTSW |
11 |
96,038,382 (GRCm39) |
missense |
probably benign |
0.41 |
R0466:Ttll6
|
UTSW |
11 |
96,036,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R0533:Ttll6
|
UTSW |
11 |
96,045,582 (GRCm39) |
missense |
probably benign |
0.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Ttll6
|
UTSW |
11 |
96,049,714 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1555:Ttll6
|
UTSW |
11 |
96,036,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
R1861:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
R1998:Ttll6
|
UTSW |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably null |
|
R2034:Ttll6
|
UTSW |
11 |
96,026,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R2126:Ttll6
|
UTSW |
11 |
96,038,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Ttll6
|
UTSW |
11 |
96,024,747 (GRCm39) |
missense |
probably benign |
0.00 |
R4684:Ttll6
|
UTSW |
11 |
96,044,003 (GRCm39) |
missense |
probably benign |
|
R4747:Ttll6
|
UTSW |
11 |
96,036,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4771:Ttll6
|
UTSW |
11 |
96,024,655 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4955:Ttll6
|
UTSW |
11 |
96,029,615 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5042:Ttll6
|
UTSW |
11 |
96,045,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5910:Ttll6
|
UTSW |
11 |
96,026,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5951:Ttll6
|
UTSW |
11 |
96,036,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6134:Ttll6
|
UTSW |
11 |
96,030,568 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6263:Ttll6
|
UTSW |
11 |
96,047,371 (GRCm39) |
missense |
probably benign |
|
R6325:Ttll6
|
UTSW |
11 |
96,026,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Ttll6
|
UTSW |
11 |
96,047,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6453:Ttll6
|
UTSW |
11 |
96,049,553 (GRCm39) |
missense |
probably benign |
0.00 |
R6681:Ttll6
|
UTSW |
11 |
96,029,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Ttll6
|
UTSW |
11 |
96,045,672 (GRCm39) |
missense |
probably benign |
|
R7574:Ttll6
|
UTSW |
11 |
96,025,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R8771:Ttll6
|
UTSW |
11 |
96,042,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Ttll6
|
UTSW |
11 |
96,047,492 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9452:Ttll6
|
UTSW |
11 |
96,026,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Ttll6
|
UTSW |
11 |
96,049,588 (GRCm39) |
missense |
probably benign |
0.01 |
R9581:Ttll6
|
UTSW |
11 |
96,049,572 (GRCm39) |
missense |
probably benign |
0.31 |
X0022:Ttll6
|
UTSW |
11 |
96,049,567 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Ttll6
|
UTSW |
11 |
96,025,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTTCAGGAGCAAGGAGGGATC -3'
(R):5'- TACTCACGTGACTTGGGAGC -3'
Sequencing Primer
(F):5'- AGGGATCCCTCTGCCTTC -3'
(R):5'- AACAAGGGGCGTTTCTTCTTC -3'
|
Posted On |
2020-06-30 |