Incidental Mutation 'R9156:Ttll4'
ID |
695350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll4
|
Ensembl Gene |
ENSMUSG00000033257 |
Gene Name |
tubulin tyrosine ligase-like family, member 4 |
Synonyms |
4632407P03Rik |
MMRRC Submission |
068974-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R9156 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74719225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 359
(F359L)
|
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: F359L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037406 Gene: ENSMUSG00000033257 AA Change: F359L
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 benign
Transcript: ENSMUST00000113678
AA Change: F359L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109308 Gene: ENSMUSG00000033257 AA Change: F359L
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 |
0.0613 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
G |
6: 121,647,957 (GRCm39) |
L1150V |
probably damaging |
Het |
AB124611 |
A |
G |
9: 21,455,989 (GRCm39) |
D194G |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,669,302 (GRCm39) |
L2418P |
probably benign |
Het |
Ap3m1 |
A |
G |
14: 21,090,152 (GRCm39) |
S213P |
probably damaging |
Het |
Apobec2 |
A |
T |
17: 48,739,531 (GRCm39) |
L36H |
|
Het |
Arrb1 |
A |
G |
7: 99,237,280 (GRCm39) |
D78G |
|
Het |
Astn1 |
A |
G |
1: 158,338,555 (GRCm39) |
Q434R |
probably damaging |
Het |
Cadps |
C |
G |
14: 12,705,676 (GRCm38) |
D240H |
probably damaging |
Het |
Cfhr4 |
A |
G |
1: 139,660,085 (GRCm39) |
I680T |
probably damaging |
Het |
Cmya5 |
A |
C |
13: 93,233,878 (GRCm39) |
D403E |
unknown |
Het |
Crxos |
A |
C |
7: 15,631,436 (GRCm39) |
I45L |
probably benign |
Het |
Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,313,687 (GRCm39) |
I4204T |
|
Het |
Ei24 |
A |
G |
9: 36,697,327 (GRCm39) |
S134P |
probably damaging |
Het |
Eif2ak3 |
G |
T |
6: 70,860,614 (GRCm39) |
V397F |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,672,969 (GRCm39) |
I134V |
|
Het |
Fam186a |
A |
G |
15: 99,841,159 (GRCm39) |
I1695T |
possibly damaging |
Het |
Gcnt3 |
T |
C |
9: 69,941,939 (GRCm39) |
M210V |
probably damaging |
Het |
Gpatch8 |
A |
G |
11: 102,370,299 (GRCm39) |
S1080P |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,244,949 (GRCm39) |
L1695P |
possibly damaging |
Het |
Haus3 |
A |
G |
5: 34,324,994 (GRCm39) |
F222L |
probably damaging |
Het |
Kbtbd8 |
C |
T |
6: 95,099,825 (GRCm39) |
Q445* |
probably null |
Het |
Kcnc3 |
A |
G |
7: 44,240,592 (GRCm39) |
N95D |
probably damaging |
Het |
Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
Lgi1 |
A |
G |
19: 38,289,746 (GRCm39) |
T271A |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,665,463 (GRCm39) |
T551A |
possibly damaging |
Het |
Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
Mug1 |
C |
A |
6: 121,851,390 (GRCm39) |
D762E |
probably damaging |
Het |
Myo1e |
A |
T |
9: 70,266,605 (GRCm39) |
N615I |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,145,827 (GRCm39) |
M1T |
probably null |
Het |
Or51f23 |
T |
C |
7: 102,453,339 (GRCm39) |
L218P |
probably damaging |
Het |
Pld5 |
T |
C |
1: 175,803,104 (GRCm39) |
E387G |
possibly damaging |
Het |
Pld5 |
A |
G |
1: 175,902,003 (GRCm39) |
V195A |
probably benign |
Het |
Rad54l |
T |
C |
4: 115,980,349 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,940,227 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,331,574 (GRCm39) |
E2262G |
|
Het |
Rp1 |
C |
A |
1: 4,234,161 (GRCm39) |
V910L |
unknown |
Het |
Rpp21 |
A |
T |
17: 36,568,407 (GRCm39) |
C23S |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,588,989 (GRCm39) |
M1306V |
possibly damaging |
Het |
Scn2b |
C |
T |
9: 45,036,734 (GRCm39) |
L81F |
possibly damaging |
Het |
Sco2 |
T |
C |
15: 89,256,363 (GRCm39) |
D97G |
probably damaging |
Het |
Slc25a54 |
T |
C |
3: 109,001,548 (GRCm39) |
V112A |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,864,492 (GRCm39) |
K363* |
probably null |
Het |
Smg1 |
G |
T |
7: 117,753,884 (GRCm39) |
T2563K |
unknown |
Het |
Snap47 |
A |
T |
11: 59,319,290 (GRCm39) |
S283T |
probably damaging |
Het |
Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
Stat1 |
G |
T |
1: 52,178,388 (GRCm39) |
R274L |
probably damaging |
Het |
Stoml1 |
A |
G |
9: 58,164,409 (GRCm39) |
T166A |
|
Het |
Svs5 |
G |
T |
2: 164,079,509 (GRCm39) |
Q133K |
probably benign |
Het |
Tas2r107 |
T |
A |
6: 131,636,422 (GRCm39) |
H209L |
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,360,228 (GRCm39) |
V477D |
possibly damaging |
Het |
Tmem131 |
A |
T |
1: 36,880,767 (GRCm39) |
S168T |
possibly damaging |
Het |
Tmem41a |
T |
C |
16: 21,755,859 (GRCm39) |
N149S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,785,162 (GRCm39) |
M784L |
unknown |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Ubxn2b |
C |
T |
4: 6,214,646 (GRCm39) |
P227S |
probably damaging |
Het |
Upb1 |
C |
T |
10: 75,265,961 (GRCm39) |
L263F |
probably benign |
Het |
Usp15 |
T |
A |
10: 122,949,553 (GRCm39) |
T935S |
probably benign |
Het |
Zscan4-ps3 |
G |
A |
7: 11,347,164 (GRCm39) |
C400Y |
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 |
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 |
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'- GATGTCACTGCCCCTATCAC -3'
(R):5'- AGGAGGTGAATGCTGATCCTC -3'
Sequencing Primer
(F):5'- AGTGTTACCTCTTCCCAGTGCAG -3'
(R):5'- GCTGATCCTCTTGGTACAGAAGAC -3'
|
Posted On |
2022-01-20 |