Incidental Mutation 'R6528:Ttll8'
| ID |
522123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll8
|
| Ensembl Gene |
ENSMUSG00000022388 |
| Gene Name |
tubulin tyrosine ligase-like family, member 8 |
| Synonyms |
1700019P01Rik |
| MMRRC Submission |
044654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R6528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88798441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 765
(Q765K)
|
| 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: Q765K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: Q765K
| 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 |
noncoding transcript
Transcript: ENSMUST00000137740
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,596 (GRCm39) |
R286H |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,351 (GRCm39) |
N1176K |
probably benign |
Het |
| Cacfd1 |
T |
G |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Ccnj |
C |
A |
19: 40,820,529 (GRCm39) |
|
probably null |
Het |
| Chad |
A |
G |
11: 94,456,450 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,133 (GRCm39) |
L191P |
probably damaging |
Het |
| Cmtm1 |
T |
C |
8: 105,035,927 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,377,241 (GRCm39) |
A449T |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,790,896 (GRCm39) |
E1334G |
probably benign |
Het |
| Endou |
C |
T |
15: 97,617,510 (GRCm39) |
E147K |
probably damaging |
Het |
| Fbxo21 |
C |
A |
5: 118,138,421 (GRCm39) |
H449N |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,250,507 (GRCm39) |
I363T |
probably damaging |
Het |
| Gm12887 |
C |
A |
4: 121,472,834 (GRCm39) |
G103C |
probably damaging |
Het |
| Gm14410 |
T |
A |
2: 176,885,301 (GRCm39) |
H321L |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Irgm2 |
C |
T |
11: 58,110,878 (GRCm39) |
P202S |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,330,543 (GRCm39) |
T551I |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,551,000 (GRCm39) |
I720N |
probably damaging |
Het |
| Lypd8 |
G |
A |
11: 58,275,439 (GRCm39) |
G58E |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,713,780 (GRCm39) |
L1952F |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,189,780 (GRCm39) |
P1043L |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,380,317 (GRCm39) |
T3832A |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,479,819 (GRCm39) |
R654C |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,638 (GRCm39) |
L14P |
probably damaging |
Het |
| Or12j3 |
G |
T |
7: 139,953,354 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,964 (GRCm39) |
M138V |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,809 (GRCm39) |
D121G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,556 (GRCm39) |
D159G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,058,630 (GRCm39) |
E3759G |
probably damaging |
Het |
| Plekho1 |
C |
T |
3: 95,896,633 (GRCm39) |
D236N |
probably damaging |
Het |
| Pnma1 |
T |
A |
12: 84,194,197 (GRCm39) |
I169F |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,905,480 (GRCm39) |
H1605L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,821,403 (GRCm39) |
M252L |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,935,381 (GRCm39) |
V120A |
probably damaging |
Het |
| Prickle4 |
T |
A |
17: 48,000,258 (GRCm39) |
R246* |
probably null |
Het |
| Rad50 |
G |
A |
11: 53,543,109 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,506,588 (GRCm39) |
N244S |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,664 (GRCm39) |
S306P |
possibly damaging |
Het |
| Shox2 |
C |
A |
3: 66,888,618 (GRCm39) |
R91L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,176 (GRCm39) |
E394G |
probably damaging |
Het |
| Tcl1b5 |
A |
G |
12: 105,145,258 (GRCm39) |
N74S |
probably benign |
Het |
| Tgif1 |
G |
A |
17: 71,153,555 (GRCm39) |
|
probably benign |
Het |
| Tmem128 |
T |
A |
5: 38,423,843 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,956 (GRCm39) |
S511P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,685,823 (GRCm39) |
I114T |
probably benign |
Het |
| Usp17ld |
A |
T |
7: 102,899,962 (GRCm39) |
D323E |
probably damaging |
Het |
| Vmn1r232 |
G |
A |
17: 21,134,309 (GRCm39) |
T97I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,493,684 (GRCm39) |
R87S |
probably benign |
Het |
| Vps26b |
C |
G |
9: 26,921,762 (GRCm39) |
E254D |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,372,875 (GRCm39) |
Y113* |
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xcr1 |
A |
T |
9: 123,685,048 (GRCm39) |
I238N |
probably damaging |
Het |
| Zar1l |
T |
A |
5: 150,430,595 (GRCm39) |
E272V |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,862 (GRCm39) |
Y146H |
probably damaging |
Het |
| Zfp54 |
G |
T |
17: 21,653,736 (GRCm39) |
E77* |
probably null |
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 |
|
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 |
|
R8407:Ttll8
|
UTSW |
15 |
88,798,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GCTTTGGAGAATACAGCTTGAAGG -3'
(R):5'- AGTGATCAGGCCTCCAAGAAC -3'
Sequencing Primer
(F):5'- GAATACAGCTTGAAGGTCGTCTC -3'
(R):5'- TCCAAGAACGACCGTGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation