Incidental Mutation 'R0295:Ttll6'
| ID |
37701 |
| 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 |
038512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96045540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 586
(V586L)
|
| 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: V482L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: V482L
| 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: V586L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: V586L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,197,213 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
| Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
| Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
| Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,793,840 (GRCm39) |
T73A |
possibly damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
| Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,860 (GRCm39) |
I69V |
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
| Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
| Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
| Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
| Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
| Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
| Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
| Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
| Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
| St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
| Tet3 |
G |
A |
6: 83,346,121 (GRCm39) |
P1304S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
probably damaging |
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 |
|
|
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 |
|
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'- AGCACTTTGCCGTCACCTATGC -3'
(R):5'- AGAGTACGCCCCTCTTCATACCTG -3'
Sequencing Primer
(F):5'- CCGAGTTTCAAGTGACTAACTGAC -3'
(R):5'- TTCATACCTGGGCAGTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation