Incidental Mutation 'R0083:Ttll4'
ID |
19741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
038370-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R0083 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 74718928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 260
(V260L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
AlphaFold |
Q80UG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: V260L
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: V260L
Domain | Start | End | E-Value | Type |
low complexity region
|
504 |
544 |
N/A |
INTRINSIC |
Pfam:TTL
|
645 |
940 |
2.2e-106 |
PFAM |
low complexity region
|
942 |
961 |
N/A |
INTRINSIC |
low complexity region
|
1103 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1168 |
1182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113678
AA Change: V260L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257 AA Change: V260L
Domain | Start | End | E-Value | Type |
low complexity region
|
504 |
544 |
N/A |
INTRINSIC |
Pfam:TTL
|
636 |
876 |
3.4e-82 |
PFAM |
low complexity region
|
878 |
897 |
N/A |
INTRINSIC |
low complexity region
|
1039 |
1049 |
N/A |
INTRINSIC |
low complexity region
|
1104 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129890
|
SMART Domains |
Protein: ENSMUSP00000119964 Gene: ENSMUSG00000033257
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141119
|
SMART Domains |
Protein: ENSMUSP00000116733 Gene: ENSMUSG00000033257
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
Validation Efficiency |
88% (117/133) |
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,667,406 (GRCm39) |
I266F |
unknown |
Het |
Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
Sap130 |
C |
A |
18: 31,799,382 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,844,694 (GRCm39) |
P902S |
probably damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ttll4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01606:Ttll4
|
APN |
1 |
74,725,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01743:Ttll4
|
APN |
1 |
74,727,352 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01914:Ttll4
|
APN |
1 |
74,718,217 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02288:Ttll4
|
APN |
1 |
74,718,560 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02621:Ttll4
|
APN |
1 |
74,726,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02662:Ttll4
|
APN |
1 |
74,726,390 (GRCm39) |
splice site |
probably null |
|
IGL02890:Ttll4
|
APN |
1 |
74,726,498 (GRCm39) |
nonsense |
probably null |
|
IGL02937:Ttll4
|
APN |
1 |
74,718,662 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03178:Ttll4
|
APN |
1 |
74,719,567 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03412:Ttll4
|
APN |
1 |
74,726,480 (GRCm39) |
missense |
probably benign |
0.28 |
1mM(1):Ttll4
|
UTSW |
1 |
74,729,139 (GRCm39) |
missense |
probably null |
1.00 |
R0108:Ttll4
|
UTSW |
1 |
74,718,928 (GRCm39) |
missense |
probably benign |
0.13 |
R0135:Ttll4
|
UTSW |
1 |
74,719,087 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0137:Ttll4
|
UTSW |
1 |
74,718,851 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0306:Ttll4
|
UTSW |
1 |
74,735,916 (GRCm39) |
missense |
probably benign |
0.28 |
R0506:Ttll4
|
UTSW |
1 |
74,727,777 (GRCm39) |
missense |
probably benign |
0.06 |
R0555:Ttll4
|
UTSW |
1 |
74,727,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Ttll4
|
UTSW |
1 |
74,718,560 (GRCm39) |
missense |
probably benign |
0.05 |
R1649:Ttll4
|
UTSW |
1 |
74,736,629 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1793:Ttll4
|
UTSW |
1 |
74,726,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1898:Ttll4
|
UTSW |
1 |
74,736,641 (GRCm39) |
missense |
probably benign |
0.01 |
R1952:Ttll4
|
UTSW |
1 |
74,726,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R1987:Ttll4
|
UTSW |
1 |
74,724,527 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1989:Ttll4
|
UTSW |
1 |
74,724,527 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2067:Ttll4
|
UTSW |
1 |
74,719,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2162:Ttll4
|
UTSW |
1 |
74,725,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R2185:Ttll4
|
UTSW |
1 |
74,718,988 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2875:Ttll4
|
UTSW |
1 |
74,725,597 (GRCm39) |
splice site |
probably null |
|
R2876:Ttll4
|
UTSW |
1 |
74,725,597 (GRCm39) |
splice site |
probably null |
|
R2895:Ttll4
|
UTSW |
1 |
74,724,517 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2896:Ttll4
|
UTSW |
1 |
74,724,517 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3157:Ttll4
|
UTSW |
1 |
74,736,770 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3832:Ttll4
|
UTSW |
1 |
74,725,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4784:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4785:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5176:Ttll4
|
UTSW |
1 |
74,718,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R5202:Ttll4
|
UTSW |
1 |
74,727,011 (GRCm39) |
critical splice donor site |
probably null |
|
R5244:Ttll4
|
UTSW |
1 |
74,735,607 (GRCm39) |
missense |
probably benign |
0.30 |
R5264:Ttll4
|
UTSW |
1 |
74,725,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5452:Ttll4
|
UTSW |
1 |
74,718,480 (GRCm39) |
missense |
probably benign |
0.06 |
R5992:Ttll4
|
UTSW |
1 |
74,724,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Ttll4
|
UTSW |
1 |
74,736,698 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6722:Ttll4
|
UTSW |
1 |
74,720,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6776:Ttll4
|
UTSW |
1 |
74,720,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R6815:Ttll4
|
UTSW |
1 |
74,718,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6836:Ttll4
|
UTSW |
1 |
74,728,572 (GRCm39) |
missense |
probably damaging |
0.98 |
R6963:Ttll4
|
UTSW |
1 |
74,720,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Ttll4
|
UTSW |
1 |
74,727,820 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7508:Ttll4
|
UTSW |
1 |
74,726,418 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7714:Ttll4
|
UTSW |
1 |
74,718,572 (GRCm39) |
missense |
probably benign |
0.00 |
R7837:Ttll4
|
UTSW |
1 |
74,720,916 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8032:Ttll4
|
UTSW |
1 |
74,735,632 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8036:Ttll4
|
UTSW |
1 |
74,718,389 (GRCm39) |
missense |
probably benign |
0.02 |
R8115:Ttll4
|
UTSW |
1 |
74,726,489 (GRCm39) |
nonsense |
probably null |
|
R8949:Ttll4
|
UTSW |
1 |
74,720,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R9145:Ttll4
|
UTSW |
1 |
74,718,949 (GRCm39) |
missense |
probably benign |
0.02 |
R9156:Ttll4
|
UTSW |
1 |
74,719,225 (GRCm39) |
missense |
probably benign |
0.00 |
R9329:Ttll4
|
UTSW |
1 |
74,725,121 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9701:Ttll4
|
UTSW |
1 |
74,720,482 (GRCm39) |
missense |
probably benign |
0.07 |
R9802:Ttll4
|
UTSW |
1 |
74,720,482 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACTGTCCTATAAGCCCATGCTG -3'
(R):5'- TCTGTTGAGAAGACCCCACTGGAAG -3'
Sequencing Primer
(F):5'- TCCTATAAGCCCATGCTGAACAAC -3'
(R):5'- AGCCTGTTCAAACTGGTAGC -3'
|
Posted On |
2013-04-11 |