Incidental Mutation 'R2185:Ttll4'
ID |
237797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
040187-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
R2185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74718988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 280
(T280A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
AlphaFold |
Q80UG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: T280A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: T280A
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 |
possibly damaging
Transcript: ENSMUST00000113678
AA Change: T280A
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257 AA Change: T280A
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
possibly damaging |
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 |
R0083:Ttll4
|
UTSW |
1 |
74,718,928 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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'- GCATCTCCACTGTCCTATAAGC -3'
(R):5'- ACTTCCTCACAGCCTCAGTG -3'
Sequencing Primer
(F):5'- TCCTTCATGAGGCCAAATAGC -3'
(R):5'- AGCCTCAGTGAAGTGTACCTC -3'
|
Posted On |
2014-10-02 |