Incidental Mutation 'R8115:Ttll4'
| ID |
631106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
067544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R8115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 74726489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 696
(Q696*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042125
AA Change: Q696*
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: Q696*
| 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
|
| 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 |
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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 94.2%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,996 (GRCm39) |
I211L |
probably benign |
Het |
| Abhd16b |
G |
A |
2: 181,135,527 (GRCm39) |
R143H |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,402 (GRCm39) |
E184G |
probably damaging |
Het |
| Aqp1 |
AGG |
AGGG |
6: 55,322,498 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,642 (GRCm39) |
R877Q |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,948,320 (GRCm39) |
T12A |
possibly damaging |
Het |
| Bcat1 |
G |
A |
6: 144,955,819 (GRCm39) |
P354L |
probably damaging |
Het |
| C9orf72 |
T |
C |
4: 35,218,763 (GRCm39) |
Y32C |
|
Het |
| Cad |
T |
C |
5: 31,218,271 (GRCm39) |
F452L |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,328,897 (GRCm39) |
I973F |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,243,720 (GRCm39) |
N43D |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,762,960 (GRCm39) |
V2262L |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,402 (GRCm39) |
Q161K |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,058,510 (GRCm39) |
H463Q |
probably benign |
Het |
| Defb1 |
C |
T |
8: 22,284,500 (GRCm39) |
H40Y |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,256 (GRCm39) |
D186E |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,738,644 (GRCm39) |
F758I |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,349,385 (GRCm39) |
I501T |
probably benign |
Het |
| Galr3 |
C |
T |
15: 78,927,524 (GRCm39) |
R322* |
probably null |
Het |
| Hrnr |
C |
A |
3: 93,231,039 (GRCm39) |
R426S |
unknown |
Het |
| Hsp90ab1 |
A |
T |
17: 45,880,201 (GRCm39) |
M476K |
possibly damaging |
Het |
| Igsf3 |
G |
T |
3: 101,362,595 (GRCm39) |
R872L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Iqsec3 |
T |
G |
6: 121,449,989 (GRCm39) |
R178S |
unknown |
Het |
| Itgbl1 |
T |
C |
14: 124,094,955 (GRCm39) |
C327R |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,723,602 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,781,851 (GRCm39) |
*908R |
probably null |
Het |
| Kdm5b |
G |
T |
1: 134,547,411 (GRCm39) |
W1020L |
possibly damaging |
Het |
| Kpna3 |
C |
A |
14: 61,608,367 (GRCm39) |
V364L |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,074,662 (GRCm39) |
I93V |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,292,644 (GRCm39) |
S109P |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,678 (GRCm39) |
S1726N |
unknown |
Het |
| Myo7a |
T |
C |
7: 97,715,653 (GRCm39) |
D1477G |
probably damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,264 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,074,996 (GRCm39) |
V352E |
probably damaging |
Het |
| Or9a2 |
T |
A |
6: 41,748,472 (GRCm39) |
T254S |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,575,319 (GRCm39) |
V195A |
probably damaging |
Het |
| Pcdhb4 |
G |
A |
18: 37,442,453 (GRCm39) |
V588M |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,487,530 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,756,707 (GRCm39) |
I428V |
unknown |
Het |
| Pmfbp1 |
G |
A |
8: 110,263,669 (GRCm39) |
V824M |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,787,118 (GRCm39) |
R47G |
possibly damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,028 (GRCm39) |
H227L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,288 (GRCm39) |
D2264G |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,164,311 (GRCm39) |
Y134H |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,999,447 (GRCm39) |
Y1019N |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,238,966 (GRCm39) |
F477L |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,973 (GRCm39) |
N576Y |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,298 (GRCm39) |
T99S |
probably benign |
Het |
| Serpinb9b |
G |
T |
13: 33,219,531 (GRCm39) |
V153F |
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,615,276 (GRCm39) |
E122G |
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,108,442 (GRCm39) |
W69R |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,000,686 (GRCm39) |
I539F |
probably damaging |
Het |
| Smgc |
G |
T |
15: 91,733,322 (GRCm39) |
|
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,653 (GRCm39) |
Y194C |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,412,293 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,197,740 (GRCm39) |
S440P |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,982 (GRCm39) |
L150P |
probably damaging |
Het |
| Ubash3b |
C |
T |
9: 40,937,624 (GRCm39) |
E447K |
probably damaging |
Het |
| Unc5cl |
T |
C |
17: 48,774,438 (GRCm39) |
S477P |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,688,072 (GRCm39) |
T2357A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,341 (GRCm39) |
S296R |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,820 (GRCm39) |
N172K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Yipf7 |
T |
A |
5: 69,684,570 (GRCm39) |
T82S |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,287 (GRCm39) |
S523G |
probably damaging |
Het |
| Zfp354a |
A |
G |
11: 50,960,490 (GRCm39) |
T233A |
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 |
|
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 |
|
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'- ACATGACCTTTGCTGGGGATG -3'
(R):5'- TGACCTGAATGCCAATGCC -3'
Sequencing Primer
(F):5'- GGACTTATTTTGTTCCACTTGGTC -3'
(R):5'- TGAATGCCAATGCCTCGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation