Incidental Mutation 'R8032:Ttll4'
| ID |
617992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R8032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74735632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1013
(D1013E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042125
AA Change: D1013E
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: D1013E
| 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 |
unknown
Transcript: ENSMUST00000113678
AA Change: D949E
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: D949E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
A |
4: 154,751,955 (GRCm39) |
E60D |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,259,189 (GRCm39) |
|
probably null |
Het |
| Ak9 |
T |
A |
10: 41,300,616 (GRCm39) |
C1609S |
unknown |
Het |
| Aox1 |
A |
T |
1: 58,389,442 (GRCm39) |
Y1147F |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,542,110 (GRCm39) |
F615L |
probably benign |
Het |
| BC005624 |
A |
G |
2: 30,865,901 (GRCm39) |
|
probably null |
Het |
| BC024063 |
T |
A |
10: 81,943,738 (GRCm39) |
M33K |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,502 (GRCm39) |
S532T |
probably benign |
Het |
| Cast |
G |
A |
13: 74,883,360 (GRCm39) |
Q292* |
probably null |
Het |
| Ccdc7a |
G |
T |
8: 129,551,864 (GRCm39) |
H1249N |
unknown |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,288,108 (GRCm39) |
I4T |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,499,426 (GRCm39) |
I38V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,821,978 (GRCm39) |
D312G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,993,505 (GRCm39) |
D2892G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,823,676 (GRCm39) |
D566N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd2 |
T |
A |
12: 80,536,427 (GRCm39) |
D352E |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,676 (GRCm39) |
L187Q |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,672,009 (GRCm39) |
I36V |
probably benign |
Het |
| Gga2 |
A |
T |
7: 121,620,210 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
C |
G |
1: 87,334,735 (GRCm39) |
H249D |
unknown |
Het |
| Gli2 |
A |
T |
1: 118,763,900 (GRCm39) |
M1417K |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm49380 |
A |
T |
9: 44,023,000 (GRCm39) |
I416N |
probably damaging |
Het |
| Gpr137 |
T |
C |
19: 6,919,480 (GRCm39) |
T16A |
unknown |
Het |
| Grid1 |
T |
A |
14: 35,045,316 (GRCm39) |
D386E |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,272 (GRCm39) |
V526A |
probably benign |
Het |
| Havcr2 |
A |
T |
11: 46,370,118 (GRCm39) |
I231F |
probably damaging |
Het |
| Icam5 |
C |
A |
9: 20,944,514 (GRCm39) |
R72S |
probably benign |
Het |
| Ighv9-2 |
T |
A |
12: 114,072,764 (GRCm39) |
I70L |
possibly damaging |
Het |
| Inpp5e |
C |
T |
2: 26,286,865 (GRCm39) |
S119N |
|
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kash5 |
TCAGGC |
TCAGGCACAGGC |
7: 44,837,630 (GRCm39) |
|
probably benign |
Het |
| Kxd1 |
T |
A |
8: 70,966,791 (GRCm39) |
D110V |
possibly damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,594 (GRCm39) |
S474P |
probably damaging |
Het |
| Meaf6 |
C |
A |
4: 124,996,795 (GRCm39) |
H168Q |
unknown |
Het |
| Nek2 |
T |
C |
1: 191,558,457 (GRCm39) |
L254S |
probably damaging |
Het |
| Nhej1 |
T |
C |
1: 75,007,959 (GRCm39) |
D104G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,292,271 (GRCm39) |
E172G |
probably benign |
Het |
| Npm3 |
A |
T |
19: 45,736,682 (GRCm39) |
D152E |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,458,196 (GRCm39) |
K2103M |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,005,807 (GRCm39) |
R518H |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,051,331 (GRCm39) |
T351S |
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,434,924 (GRCm39) |
R131S |
possibly damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,210 (GRCm39) |
I22V |
probably benign |
Het |
| Otof |
T |
A |
5: 30,619,142 (GRCm39) |
M1L |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,025,278 (GRCm39) |
Y477N |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,572,966 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,692,151 (GRCm39) |
R178G |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,314,429 (GRCm39) |
S56P |
possibly damaging |
Het |
| Prcp |
T |
G |
7: 92,577,906 (GRCm39) |
C392G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,597,315 (GRCm39) |
K2825R |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,029,918 (GRCm39) |
Y468* |
probably null |
Het |
| Rbmxl2 |
A |
G |
7: 106,809,429 (GRCm39) |
Y238C |
probably damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Slc25a18 |
G |
A |
6: 120,769,452 (GRCm39) |
G237D |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,763 (GRCm39) |
G260D |
probably damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,463,846 (GRCm39) |
S201R |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,525,394 (GRCm39) |
D547E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,555,287 (GRCm39) |
C199Y |
|
Het |
| Top1mt |
A |
G |
15: 75,540,572 (GRCm39) |
V233A |
probably damaging |
Het |
| Tpp2 |
C |
G |
1: 44,014,628 (GRCm39) |
P656A |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,628,806 (GRCm39) |
L193Q |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,144,299 (GRCm39) |
V208A |
possibly damaging |
Het |
| Vmn1r185 |
C |
A |
7: 26,310,558 (GRCm39) |
V316F |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,375 (GRCm39) |
V351E |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,751,043 (GRCm39) |
K2391* |
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,677,854 (GRCm39) |
V2968A |
possibly damaging |
Het |
| Zfp551 |
G |
A |
7: 12,152,487 (GRCm39) |
A82V |
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 |
|
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 |
|
|
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'- GCCTGTATACATCATCAGGTGTC -3'
(R):5'- TAACTATGGCCTCCTGTGGG -3'
Sequencing Primer
(F):5'- TTTGTAGTCCCACGGGAGTCC -3'
(R):5'- GGCAAGACAGGCATATCACCTTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation