Incidental Mutation 'R1987:Ttll4'
ID |
222584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
039999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
R1987 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 74724527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 566
(V566L)
|
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: V566L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: V566L
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: V566L
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257 AA Change: V566L
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 |
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: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
T |
19: 8,992,615 (GRCm39) |
D4633V |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 98,103,604 (GRCm39) |
M803V |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,008,134 (GRCm39) |
|
probably null |
Het |
Bltp2 |
A |
T |
11: 78,158,993 (GRCm39) |
Q433L |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,761,390 (GRCm39) |
L130* |
probably null |
Het |
Ccdc73 |
A |
G |
2: 104,829,504 (GRCm39) |
E1059G |
probably damaging |
Het |
Ccer2 |
A |
C |
7: 28,456,708 (GRCm39) |
S151R |
possibly damaging |
Het |
Cep128 |
T |
A |
12: 91,197,603 (GRCm39) |
H406L |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,931,596 (GRCm39) |
D103V |
probably benign |
Het |
Crppa |
T |
A |
12: 36,571,995 (GRCm39) |
L301Q |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,142,194 (GRCm39) |
G61C |
probably damaging |
Het |
Disp3 |
G |
A |
4: 148,343,210 (GRCm39) |
A567V |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,072,027 (GRCm39) |
Y2433C |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,985,620 (GRCm39) |
I85T |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,829,242 (GRCm39) |
S1380A |
probably benign |
Het |
Erbin |
T |
C |
13: 104,022,711 (GRCm39) |
T43A |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,733,360 (GRCm39) |
V502A |
possibly damaging |
Het |
Fn1 |
T |
C |
1: 71,690,784 (GRCm39) |
H59R |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,209,407 (GRCm39) |
V145A |
possibly damaging |
Het |
Fzr1 |
A |
G |
10: 81,206,153 (GRCm39) |
V178A |
probably damaging |
Het |
Gnpnat1 |
T |
C |
14: 45,618,455 (GRCm39) |
R116G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,891,472 (GRCm39) |
V235E |
probably damaging |
Het |
Hdac4 |
A |
C |
1: 91,862,367 (GRCm39) |
N1002K |
probably damaging |
Het |
Hey1 |
C |
T |
3: 8,729,957 (GRCm39) |
A167T |
probably benign |
Het |
Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
Ints2 |
A |
T |
11: 86,108,626 (GRCm39) |
V907D |
probably benign |
Het |
Jchain |
T |
A |
5: 88,669,326 (GRCm39) |
Q109L |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,693,335 (GRCm39) |
Y537* |
probably null |
Het |
Klra1 |
C |
T |
6: 130,354,742 (GRCm39) |
S92N |
probably benign |
Het |
Krt31 |
C |
T |
11: 99,940,406 (GRCm39) |
G150S |
probably benign |
Het |
Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
Map4k5 |
T |
G |
12: 69,889,686 (GRCm39) |
R198S |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,388,867 (GRCm39) |
C354Y |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,991,019 (GRCm39) |
V25E |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,676,565 (GRCm39) |
S512R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,705,322 (GRCm39) |
A1947S |
possibly damaging |
Het |
Nfasc |
T |
C |
1: 132,538,624 (GRCm39) |
D427G |
probably damaging |
Het |
Nlrp9c |
A |
G |
7: 26,077,481 (GRCm39) |
M767T |
probably benign |
Het |
Nrbp1 |
T |
C |
5: 31,402,735 (GRCm39) |
L185P |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,577,035 (GRCm39) |
M158L |
possibly damaging |
Het |
Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,592,370 (GRCm39) |
T1209S |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,079 (GRCm39) |
S1404P |
possibly damaging |
Het |
Preb |
T |
C |
5: 31,116,157 (GRCm39) |
D150G |
probably damaging |
Het |
Prrt2 |
A |
G |
7: 126,617,902 (GRCm39) |
V59A |
probably benign |
Het |
Prss40 |
T |
C |
1: 34,597,095 (GRCm39) |
N151S |
possibly damaging |
Het |
Ptprt |
G |
T |
2: 161,400,818 (GRCm39) |
A1053D |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,608,241 (GRCm39) |
V685A |
possibly damaging |
Het |
Rfx4 |
C |
T |
10: 84,731,952 (GRCm39) |
S549F |
possibly damaging |
Het |
Rnaset2b |
T |
A |
17: 7,263,876 (GRCm39) |
V87E |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,331,933 (GRCm39) |
E2381K |
probably damaging |
Het |
Sectm1a |
A |
T |
11: 120,960,506 (GRCm39) |
I103N |
probably damaging |
Het |
Selp |
T |
A |
1: 163,970,327 (GRCm39) |
L597Q |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,433,209 (GRCm39) |
D74G |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
Setd1b |
A |
T |
5: 123,285,769 (GRCm39) |
T272S |
unknown |
Het |
Sgf29 |
G |
C |
7: 126,248,649 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,250,214 (GRCm39) |
I649T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,600,863 (GRCm39) |
Y91H |
probably damaging |
Het |
Styxl1 |
T |
C |
5: 135,785,976 (GRCm39) |
Y23C |
probably damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,425,846 (GRCm39) |
V490A |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,744 (GRCm39) |
F133L |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,192,126 (GRCm39) |
|
probably benign |
Het |
Top2b |
A |
G |
14: 16,398,916 (GRCm38) |
E512G |
probably damaging |
Het |
Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
Ttc17 |
T |
A |
2: 94,194,690 (GRCm39) |
H561L |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,797,692 (GRCm39) |
Y602H |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
Wbp11 |
A |
G |
6: 136,797,583 (GRCm39) |
S279P |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,733 (GRCm39) |
L50P |
probably damaging |
Het |
Zfp715 |
A |
C |
7: 42,948,073 (GRCm39) |
I629S |
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 |
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'- GCACTGTATGAGCTCATATTTGC -3'
(R):5'- AAGTCCTCTATTGAGCCTACATCC -3'
Sequencing Primer
(F):5'- CTGTATGAGCTCATATTTGCAGAATG -3'
(R):5'- TACATCCCCGTGTGAACTGAG -3'
|
Posted On |
2014-08-25 |