Incidental Mutation 'R1453:Ttll6'
| ID |
161619 |
| 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 |
039508-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1453 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96049714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 811
(S811P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
| AlphaFold |
A4Q9E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107680
AA Change: S707P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: S707P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
|
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167258
AA Change: S811P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: S811P
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,862,763 (GRCm39) |
I240M |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,558,710 (GRCm39) |
D595E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,025,614 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
A |
G |
5: 145,062,555 (GRCm39) |
D223G |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,866 (GRCm39) |
T104S |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,969 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
T |
C |
2: 118,587,903 (GRCm39) |
D477G |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,666,197 (GRCm39) |
V39A |
possibly damaging |
Het |
| Clmp |
C |
G |
9: 40,693,737 (GRCm39) |
S318W |
probably damaging |
Het |
| Cmas |
T |
C |
6: 142,717,853 (GRCm39) |
S323P |
probably damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,079,132 (GRCm39) |
T80A |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,453,298 (GRCm39) |
Y484C |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,073,075 (GRCm39) |
V154A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,990,316 (GRCm39) |
V252I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,341,876 (GRCm39) |
Y3003C |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,480 (GRCm39) |
|
probably null |
Het |
| Dppa4 |
G |
A |
16: 48,111,596 (GRCm39) |
A194T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,228,527 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Dytn |
G |
C |
1: 63,673,032 (GRCm39) |
S457C |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,777,768 (GRCm39) |
Q1101* |
probably null |
Het |
| Focad |
A |
T |
4: 88,275,679 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
| Gm5093 |
A |
G |
17: 46,750,622 (GRCm39) |
F135S |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,969,759 (GRCm39) |
D71E |
possibly damaging |
Het |
| Heatr5b |
G |
A |
17: 79,124,992 (GRCm39) |
R587C |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,279 (GRCm39) |
|
probably null |
Het |
| Mier3 |
T |
A |
13: 111,841,778 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrgprg |
G |
A |
7: 143,318,779 (GRCm39) |
S111F |
possibly damaging |
Het |
| Mybl1 |
T |
C |
1: 9,741,901 (GRCm39) |
K677R |
probably benign |
Het |
| Nhsl1 |
T |
C |
10: 18,407,323 (GRCm39) |
S1486P |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,114 (GRCm39) |
I783T |
probably benign |
Het |
| Or10d4c |
A |
T |
9: 39,558,459 (GRCm39) |
T146S |
probably benign |
Het |
| Or5an1c |
A |
T |
19: 12,218,956 (GRCm39) |
I23K |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,769,281 (GRCm39) |
I31L |
probably benign |
Het |
| Plaat5 |
A |
G |
19: 7,616,999 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,338,917 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,530,553 (GRCm39) |
|
probably null |
Het |
| Rinl |
T |
C |
7: 28,496,329 (GRCm39) |
C437R |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,965,499 (GRCm39) |
S192P |
unknown |
Het |
| Slc2a10 |
A |
T |
2: 165,359,570 (GRCm39) |
Y478F |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,343,877 (GRCm39) |
L12H |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,414,393 (GRCm39) |
C970S |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,857 (GRCm39) |
S119P |
probably damaging |
Het |
| Stim2 |
C |
A |
5: 54,273,451 (GRCm39) |
D568E |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,757 (GRCm39) |
E306G |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,735,437 (GRCm39) |
K299E |
probably benign |
Het |
| Urb1 |
C |
A |
16: 90,593,380 (GRCm39) |
V251L |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,590 (GRCm39) |
E183D |
probably damaging |
Het |
| Zfp35 |
T |
G |
18: 24,136,557 (GRCm39) |
Y300* |
probably null |
Het |
| Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
| Zfp938 |
C |
T |
10: 82,063,632 (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 |
|
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 |
|
R8130:Ttll6
|
UTSW |
11 |
96,047,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TGTGCTGACTGACAATGCCTTTCC -3'
(R):5'- ACGTTGACAAGGTCCTTTCCAGTTC -3'
Sequencing Primer
(F):5'- GACTGACAATGCCTTTCCAGAATAC -3'
(R):5'- CTCAACTTTAGCTGTAGGCAGATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation