Incidental Mutation 'R5202:Ttll4'
ID |
400847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
042777-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R5202 (G1)
|
Quality Score |
181 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 74727011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
AlphaFold |
Q80UG8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042125
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257
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 null
Transcript: ENSMUST00000113678
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257
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 |
noncoding transcript
Transcript: ENSMUST00000140591
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155753
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,562,308 (GRCm39) |
M312L |
probably benign |
Het |
Adam7 |
C |
A |
14: 68,745,305 (GRCm39) |
D640Y |
possibly damaging |
Het |
Alcam |
T |
C |
16: 52,094,599 (GRCm39) |
Y384C |
probably damaging |
Het |
Apob |
A |
G |
12: 8,063,737 (GRCm39) |
E289G |
probably damaging |
Het |
Arhgap15 |
A |
T |
2: 43,953,869 (GRCm39) |
R198S |
probably benign |
Het |
Bbs2 |
G |
T |
8: 94,819,042 (GRCm39) |
S109* |
probably null |
Het |
Bfsp1 |
T |
C |
2: 143,668,891 (GRCm39) |
S569G |
probably benign |
Het |
Chst9 |
A |
T |
18: 15,586,296 (GRCm39) |
I89N |
probably benign |
Het |
Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
Csde1 |
T |
G |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
Csf2rb |
T |
G |
15: 78,233,257 (GRCm39) |
S855A |
possibly damaging |
Het |
Cyp4a10 |
T |
A |
4: 115,389,812 (GRCm39) |
D472E |
probably damaging |
Het |
Cyp4f18 |
C |
A |
8: 72,762,940 (GRCm39) |
R49L |
probably benign |
Het |
Daam1 |
G |
T |
12: 71,991,048 (GRCm39) |
V221L |
unknown |
Het |
Dbr1 |
T |
G |
9: 99,465,944 (GRCm39) |
D507E |
probably benign |
Het |
Dhrs7c |
A |
G |
11: 67,706,627 (GRCm39) |
M188V |
probably benign |
Het |
Dicer1 |
A |
T |
12: 104,660,990 (GRCm39) |
L1688* |
probably null |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
E2f3 |
G |
A |
13: 30,102,619 (GRCm39) |
T91I |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,897,853 (GRCm39) |
V157E |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,394,770 (GRCm39) |
T157S |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,458,767 (GRCm39) |
V2034A |
probably benign |
Het |
Fzd10 |
T |
C |
5: 128,679,180 (GRCm39) |
V300A |
possibly damaging |
Het |
Gbf1 |
A |
T |
19: 46,256,893 (GRCm39) |
M778L |
probably benign |
Het |
Gm17472 |
T |
A |
6: 42,958,068 (GRCm39) |
N112K |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,424,330 (GRCm39) |
K845R |
probably benign |
Het |
Hspa4l |
T |
A |
3: 40,736,001 (GRCm39) |
S541T |
probably benign |
Het |
Igkv4-68 |
G |
A |
6: 69,281,926 (GRCm39) |
R82C |
probably damaging |
Het |
Itgb1 |
A |
T |
8: 129,446,491 (GRCm39) |
I383F |
probably damaging |
Het |
Kcnk12 |
T |
A |
17: 88,054,033 (GRCm39) |
K210* |
probably null |
Het |
Limch1 |
C |
G |
5: 67,150,516 (GRCm39) |
D163E |
probably damaging |
Het |
Mbd4 |
A |
T |
6: 115,826,363 (GRCm39) |
D188E |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,665,310 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
T |
C |
9: 110,473,734 (GRCm39) |
E28G |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 56,064,116 (GRCm39) |
E201G |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,323,583 (GRCm39) |
H1330Y |
probably damaging |
Het |
Nudt14 |
A |
G |
12: 112,898,648 (GRCm39) |
S151P |
probably damaging |
Het |
Or14c45 |
C |
A |
7: 86,176,324 (GRCm39) |
R120S |
probably damaging |
Het |
Or2ag2 |
T |
A |
7: 106,485,803 (GRCm39) |
T74S |
possibly damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,514 (GRCm39) |
F28L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Paqr9 |
A |
G |
9: 95,442,163 (GRCm39) |
D51G |
probably damaging |
Het |
Pcgf5 |
T |
A |
19: 36,414,583 (GRCm39) |
F80I |
probably damaging |
Het |
Pkhd1 |
T |
G |
1: 20,617,565 (GRCm39) |
S1007R |
probably benign |
Het |
Rab30 |
T |
C |
7: 92,485,121 (GRCm39) |
Y196H |
probably benign |
Het |
Setd2 |
A |
T |
9: 110,380,298 (GRCm39) |
D1371V |
probably damaging |
Het |
Slc48a1 |
A |
T |
15: 97,688,581 (GRCm39) |
I140F |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 41,944,879 (GRCm39) |
V882A |
probably benign |
Het |
Sptbn2 |
G |
T |
19: 4,774,212 (GRCm39) |
G88W |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,189,455 (GRCm39) |
V427A |
possibly damaging |
Het |
Tekt2 |
T |
C |
4: 126,218,463 (GRCm39) |
D69G |
probably benign |
Het |
Tie1 |
C |
T |
4: 118,337,707 (GRCm39) |
V463I |
probably benign |
Het |
Tmem150c |
G |
T |
5: 100,227,813 (GRCm39) |
H217N |
probably damaging |
Het |
Tnks2 |
G |
A |
19: 36,866,252 (GRCm39) |
G1080R |
probably 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 |
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'- GGTCATCTGGCTGGCAATAAG -3'
(R):5'- GACTAGTGCACAGACCTGTTCAG -3'
Sequencing Primer
(F):5'- CATCTGGCTGGCAATAAGGTTAGC -3'
(R):5'- TTCAGTTCCTGAAAGGCCAAAG -3'
|
Posted On |
2016-07-06 |