Incidental Mutation 'R4388:Ttll2'
| ID |
326323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll2
|
| Ensembl Gene |
ENSMUSG00000079722 |
| Gene Name |
tubulin tyrosine ligase-like family, member 2 |
| Synonyms |
EG625850 |
| MMRRC Submission |
041125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4388 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7618284-7620095 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 7618599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 443
(R443*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115747]
[ENSMUST00000231397]
|
| AlphaFold |
A4Q9E4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115747
AA Change: R443*
|
| SMART Domains |
Protein: ENSMUSP00000111413
Gene: ENSMUSG00000079722
AA Change: R443*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
91 |
383 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231397
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
86% (31/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,729,828 (GRCm39) |
T218A |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,349,486 (GRCm39) |
D254G |
probably damaging |
Het |
| Arpc4 |
A |
G |
6: 113,362,458 (GRCm39) |
D36G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cldn20 |
G |
A |
17: 3,583,485 (GRCm39) |
M219I |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,303,551 (GRCm39) |
P2308S |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,329 (GRCm39) |
I549V |
probably damaging |
Het |
| Galnt2 |
T |
C |
8: 125,022,192 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
A |
G |
5: 110,736,257 (GRCm39) |
D191G |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,819,941 (GRCm39) |
H557Q |
probably benign |
Het |
| Ifna12 |
T |
C |
4: 88,521,346 (GRCm39) |
D67G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,663,512 (GRCm39) |
V164A |
possibly damaging |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Kmt2b |
A |
C |
7: 30,288,015 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,751,507 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,898,068 (GRCm39) |
H489Q |
possibly damaging |
Het |
| Larp7-ps |
A |
T |
4: 92,079,351 (GRCm39) |
S157T |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,892,583 (GRCm39) |
M115I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Naca |
T |
C |
10: 127,880,661 (GRCm39) |
S1898P |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Pex26 |
A |
G |
6: 121,161,351 (GRCm39) |
D43G |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,598 (GRCm39) |
S966P |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Serpina3n |
C |
A |
12: 104,377,616 (GRCm39) |
Q290K |
probably benign |
Het |
| Sft2d1 |
A |
G |
17: 8,539,469 (GRCm39) |
K91E |
possibly damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,105 (GRCm39) |
V54A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,069,249 (GRCm39) |
Y2846H |
possibly damaging |
Het |
| Uty |
A |
G |
Y: 1,151,956 (GRCm39) |
S795P |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,369,189 (GRCm39) |
S348T |
possibly damaging |
Het |
|
| Other mutations in Ttll2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Ttll2
|
APN |
17 |
7,619,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03190:Ttll2
|
APN |
17 |
7,618,779 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1922:Ttll2
|
UTSW |
17 |
7,619,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2237:Ttll2
|
UTSW |
17 |
7,619,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2892:Ttll2
|
UTSW |
17 |
7,620,098 (GRCm39) |
splice site |
probably null |
|
|
R4389:Ttll2
|
UTSW |
17 |
7,618,599 (GRCm39) |
nonsense |
probably null |
|
|
R4534:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4535:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4536:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4868:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4870:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4871:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5990:Ttll2
|
UTSW |
17 |
7,619,766 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6145:Ttll2
|
UTSW |
17 |
7,619,031 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6332:Ttll2
|
UTSW |
17 |
7,619,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Ttll2
|
UTSW |
17 |
7,619,490 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8250:Ttll2
|
UTSW |
17 |
7,618,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8673:Ttll2
|
UTSW |
17 |
7,619,340 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9036:Ttll2
|
UTSW |
17 |
7,619,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9429:Ttll2
|
UTSW |
17 |
7,620,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Ttll2
|
UTSW |
17 |
7,619,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Ttll2
|
UTSW |
17 |
7,618,676 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9784:Ttll2
|
UTSW |
17 |
7,618,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF010:Ttll2
|
UTSW |
17 |
7,618,737 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Ttll2
|
UTSW |
17 |
7,618,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAAAGTAGCCTTGTTGAACG -3'
(R):5'- ACTTCTCCAGGAAACTCCGTG -3'
Sequencing Primer
(F):5'- ACAAAGTTGCCGGCGTG -3'
(R):5'- TCCAGGAAACTCCGTGGTCTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation