Incidental Mutation 'R7714:Ttll4'
ID |
594760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
045772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R7714 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74718572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 141
(S141L)
|
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: S141L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: S141L
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: S141L
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257 AA Change: S141L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
G |
5: 8,167,587 (GRCm39) |
|
probably null |
Het |
Agrn |
C |
A |
4: 156,279,854 (GRCm39) |
D106Y |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,192,352 (GRCm39) |
Y416N |
probably benign |
Het |
Atp6v0a2 |
C |
T |
5: 124,775,533 (GRCm39) |
T135M |
probably damaging |
Het |
Bach1 |
C |
A |
16: 87,515,736 (GRCm39) |
Y92* |
probably null |
Het |
Catsperg1 |
A |
C |
7: 28,884,907 (GRCm39) |
C905G |
probably null |
Het |
Cbr2 |
T |
C |
11: 120,620,628 (GRCm39) |
I219V |
probably benign |
Het |
Ccdc3 |
A |
T |
2: 5,233,908 (GRCm39) |
K244I |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,265,433 (GRCm39) |
V237A |
probably damaging |
Het |
Chek2 |
T |
C |
5: 110,989,319 (GRCm39) |
C81R |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,242,723 (GRCm39) |
|
probably null |
Het |
Cracdl |
T |
A |
1: 37,663,858 (GRCm39) |
Q680L |
probably benign |
Het |
Crybg3 |
A |
T |
16: 59,379,236 (GRCm39) |
S673T |
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,276,743 (GRCm39) |
Y848* |
probably null |
Het |
Dgkb |
C |
A |
12: 38,680,592 (GRCm39) |
T764K |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,775,648 (GRCm39) |
C530* |
probably null |
Het |
Dpyd |
A |
G |
3: 118,597,780 (GRCm39) |
K254R |
probably benign |
Het |
Dstyk |
C |
T |
1: 132,384,614 (GRCm39) |
P703S |
possibly damaging |
Het |
Ehhadh |
A |
T |
16: 21,585,140 (GRCm39) |
I247N |
probably damaging |
Het |
Fer1l5 |
T |
G |
1: 36,440,558 (GRCm39) |
L597R |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,752,842 (GRCm39) |
E71G |
probably damaging |
Het |
Fnip2 |
A |
C |
3: 79,425,421 (GRCm39) |
V58G |
probably damaging |
Het |
Gapdhs |
A |
T |
7: 30,431,349 (GRCm39) |
I377N |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,733,359 (GRCm39) |
A1059V |
probably damaging |
Het |
Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
Grik2 |
A |
C |
10: 49,295,792 (GRCm39) |
I392S |
probably damaging |
Het |
Hoxb3 |
T |
C |
11: 96,236,606 (GRCm39) |
L228P |
probably damaging |
Het |
Iws1 |
A |
T |
18: 32,223,568 (GRCm39) |
M659L |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,580,364 (GRCm39) |
C570R |
probably benign |
Het |
Lamc3 |
T |
A |
2: 31,812,279 (GRCm39) |
|
probably null |
Het |
Lipf |
G |
A |
19: 33,943,048 (GRCm39) |
G119R |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,507,719 (GRCm39) |
I1416M |
unknown |
Het |
Magel2 |
A |
T |
7: 62,028,130 (GRCm39) |
I345L |
probably benign |
Het |
Mdn1 |
G |
A |
4: 32,722,360 (GRCm39) |
A2381T |
possibly damaging |
Het |
Med12l |
T |
C |
3: 59,001,007 (GRCm39) |
V690A |
probably benign |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mob3b |
A |
G |
4: 35,083,872 (GRCm39) |
Y106H |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,549,519 (GRCm39) |
Y166H |
probably damaging |
Het |
Ndst4 |
A |
T |
3: 125,364,493 (GRCm39) |
H390L |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,425,472 (GRCm39) |
N280K |
probably damaging |
Het |
Or10aa1 |
G |
A |
1: 173,869,900 (GRCm39) |
R128H |
probably benign |
Het |
Or5b116 |
A |
T |
19: 13,423,252 (GRCm39) |
N292I |
probably damaging |
Het |
Otof |
A |
G |
5: 30,527,597 (GRCm39) |
F1947L |
probably damaging |
Het |
Pabpc4 |
G |
A |
4: 123,189,102 (GRCm39) |
A481T |
probably benign |
Het |
Parm1 |
C |
T |
5: 91,741,791 (GRCm39) |
T53I |
possibly damaging |
Het |
Pilra |
C |
T |
5: 137,833,679 (GRCm39) |
R129Q |
probably benign |
Het |
Pkd1 |
C |
T |
17: 24,769,250 (GRCm39) |
A5V |
unknown |
Het |
Pmch |
T |
C |
10: 87,927,242 (GRCm39) |
S82P |
probably benign |
Het |
Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
Rad51c |
T |
C |
11: 87,292,276 (GRCm39) |
S180G |
probably benign |
Het |
Rassf8 |
A |
C |
6: 145,760,973 (GRCm39) |
T100P |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,844,890 (GRCm39) |
E394G |
probably damaging |
Het |
Rufy2 |
T |
A |
10: 62,838,772 (GRCm39) |
V418E |
probably benign |
Het |
Sdad1 |
A |
T |
5: 92,450,538 (GRCm39) |
V199D |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,063,761 (GRCm39) |
S2227T |
probably benign |
Het |
Tac4 |
A |
G |
11: 95,156,116 (GRCm39) |
M66V |
probably benign |
Het |
Tas2r126 |
T |
C |
6: 42,412,031 (GRCm39) |
V188A |
probably benign |
Het |
Tcerg1 |
T |
C |
18: 42,694,000 (GRCm39) |
V707A |
possibly damaging |
Het |
Tmem273 |
A |
G |
14: 32,527,129 (GRCm39) |
E32G |
possibly damaging |
Het |
Trav13d-4 |
G |
A |
14: 53,995,355 (GRCm39) |
G103D |
probably damaging |
Het |
Trav8d-1 |
A |
G |
14: 53,016,380 (GRCm39) |
S89G |
probably benign |
Het |
Vash1 |
T |
C |
12: 86,738,614 (GRCm39) |
S354P |
probably benign |
Het |
Vmn2r40 |
T |
A |
7: 8,911,116 (GRCm39) |
I726F |
|
Het |
Vmn2r53 |
A |
C |
7: 12,340,418 (GRCm39) |
N18K |
probably damaging |
Het |
Wnt6 |
T |
C |
1: 74,823,422 (GRCm39) |
F253S |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,811 (GRCm39) |
I118T |
probably benign |
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 |
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 |
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'- GCACCAGTTTCTTGGGAGTC -3'
(R):5'- TTCCCTGAGATAGCAGAGGC -3'
Sequencing Primer
(F):5'- GAGTCCCATCCCAGCCAG -3'
(R):5'- ATAGCAGAGGCCAGGCTCTTC -3'
|
Posted On |
2019-11-12 |