Incidental Mutation 'R6134:Ttll6'
| ID |
487290 |
| 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 |
044281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96030568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 245
(T245I)
|
| 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: T141I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: T141I
| 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: T245I
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: T245I
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,767,619 (GRCm39) |
E39K |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aktip |
T |
A |
8: 91,856,388 (GRCm39) |
S30C |
probably damaging |
Het |
| Anxa10 |
G |
T |
8: 62,530,977 (GRCm39) |
H78N |
probably damaging |
Het |
| Aoah |
C |
T |
13: 21,095,293 (GRCm39) |
R196W |
probably damaging |
Het |
| Arl4c |
A |
T |
1: 88,629,152 (GRCm39) |
W79R |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,669 (GRCm39) |
D178E |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,577,037 (GRCm39) |
P120L |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,342,697 (GRCm39) |
M17K |
probably benign |
Het |
| Cdhr17 |
A |
T |
5: 17,029,683 (GRCm39) |
D473V |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,798 (GRCm39) |
T103A |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,649,536 (GRCm39) |
D282E |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,538,035 (GRCm39) |
S1181R |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,442,978 (GRCm39) |
D506G |
probably damaging |
Het |
| Crx |
A |
T |
7: 15,602,032 (GRCm39) |
Y215* |
probably null |
Het |
| Fasn |
A |
T |
11: 120,713,012 (GRCm39) |
S58T |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,580,651 (GRCm39) |
E518G |
possibly damaging |
Het |
| Garem1 |
A |
T |
18: 21,262,881 (GRCm39) |
D644E |
probably benign |
Het |
| H2-Q2 |
A |
C |
17: 35,562,217 (GRCm39) |
T155P |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,572 (GRCm39) |
I49N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lnpep |
A |
G |
17: 17,773,454 (GRCm39) |
M639T |
probably benign |
Het |
| Lypd11 |
G |
A |
7: 24,425,481 (GRCm39) |
A3V |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,240,503 (GRCm39) |
S333F |
probably damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,229 (GRCm39) |
S175G |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,579 (GRCm39) |
I191N |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,244,595 (GRCm39) |
V701A |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,828,851 (GRCm39) |
V565A |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Numbl |
G |
C |
7: 26,980,739 (GRCm39) |
A574P |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,907,113 (GRCm39) |
V508A |
unknown |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,461 (GRCm39) |
S197T |
probably benign |
Het |
| Pck2 |
T |
A |
14: 55,781,419 (GRCm39) |
M180K |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,900,740 (GRCm39) |
V91A |
possibly damaging |
Het |
| Phtf1 |
A |
T |
3: 103,911,721 (GRCm39) |
M643L |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,837 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,141,190 (GRCm39) |
Y546H |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,374,745 (GRCm39) |
L742P |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,107,194 (GRCm39) |
L64P |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,302,296 (GRCm39) |
I407F |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Scin |
G |
A |
12: 40,110,578 (GRCm39) |
P690L |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,987 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,869,633 (GRCm39) |
E566G |
probably damaging |
Het |
| Speer4f1 |
G |
A |
5: 17,681,140 (GRCm39) |
R6Q |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,890,986 (GRCm39) |
Y443F |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,135,143 (GRCm39) |
I79V |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,444 (GRCm39) |
I673T |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,449,323 (GRCm39) |
F664L |
probably benign |
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 |
|
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'- GTGGGAGCTAGACATCTTCAC -3'
(R):5'- CTTCTTGAGCACCTTGGCAC -3'
Sequencing Primer
(F):5'- GGAGCTAGACATCTTCACCTGTG -3'
(R):5'- CTTGAGCACCTTGGCACTGTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation