Incidental Mutation 'R1952:Ttll4'
| ID |
217351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
039966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R1952 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74726718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 745
(R745G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042125
AA Change: R745G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: R745G
| 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: R681G
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: R681G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
A |
G |
14: 32,110,293 (GRCm39) |
V6A |
possibly damaging |
Het |
| Accsl |
G |
T |
2: 93,689,778 (GRCm39) |
H376Q |
probably damaging |
Het |
| Adgrg1 |
T |
C |
8: 95,735,119 (GRCm39) |
|
probably null |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,338,566 (GRCm39) |
D128G |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,409,329 (GRCm39) |
Y301C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,789 (GRCm39) |
T804A |
probably damaging |
Het |
| Capn11 |
A |
T |
17: 45,953,885 (GRCm39) |
W154R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,683,432 (GRCm39) |
T201S |
probably damaging |
Het |
| Cers4 |
G |
A |
8: 4,573,461 (GRCm39) |
W319* |
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,130 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,248,028 (GRCm39) |
C219S |
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,950,474 (GRCm39) |
N759S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,963 (GRCm39) |
V3413A |
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,045,231 (GRCm39) |
H576R |
probably benign |
Het |
| Gm4884 |
G |
A |
7: 40,693,671 (GRCm39) |
V547M |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,243,105 (GRCm39) |
V174A |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,269,300 (GRCm39) |
S838P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,221,150 (GRCm39) |
I742V |
probably benign |
Het |
| Katnal2 |
G |
T |
18: 77,067,707 (GRCm39) |
S411R |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,403,300 (GRCm39) |
V2091G |
probably damaging |
Het |
| Mettl21c |
A |
T |
1: 44,056,368 (GRCm39) |
D20E |
probably damaging |
Het |
| Mib1 |
A |
T |
18: 10,812,077 (GRCm39) |
E991D |
possibly damaging |
Het |
| Mip |
T |
C |
10: 128,061,772 (GRCm39) |
S8P |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,568,048 (GRCm39) |
S826P |
probably damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Myrfl |
C |
T |
10: 116,658,716 (GRCm39) |
V414I |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,077,700 (GRCm39) |
Q1035L |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,770 (GRCm39) |
V570A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,895,589 (GRCm39) |
E157V |
probably null |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g37 |
T |
C |
9: 39,731,363 (GRCm39) |
S143P |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,624 (GRCm39) |
D21G |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,310,546 (GRCm39) |
S481T |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,454,136 (GRCm39) |
G38E |
possibly damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,884 (GRCm39) |
V246A |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,308 (GRCm39) |
V490E |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,390,380 (GRCm39) |
R427H |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,340,216 (GRCm39) |
F128L |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,038,471 (GRCm39) |
M541V |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,277 (GRCm39) |
R234* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,047,173 (GRCm39) |
L683Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,938,229 (GRCm39) |
T132A |
probably damaging |
Het |
| Sbspon |
A |
G |
1: 15,930,519 (GRCm39) |
S156P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,458,347 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,756,792 (GRCm39) |
K282R |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,152,482 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,841,578 (GRCm39) |
H475L |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,920 (GRCm39) |
V575I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,184 (GRCm39) |
C833S |
possibly damaging |
Het |
| Speer2 |
A |
C |
16: 69,654,052 (GRCm39) |
N232K |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,358,927 (GRCm39) |
M194K |
probably damaging |
Het |
| Sytl3 |
A |
C |
17: 6,995,732 (GRCm39) |
T171P |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,747 (GRCm39) |
Y114N |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,122,381 (GRCm39) |
Y67H |
probably benign |
Het |
| Tap1 |
C |
G |
17: 34,412,481 (GRCm39) |
P506R |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,319 (GRCm39) |
D212G |
possibly damaging |
Het |
| Trim80 |
G |
T |
11: 115,332,155 (GRCm39) |
E116* |
probably null |
Het |
| Vdac2 |
A |
T |
14: 21,887,947 (GRCm39) |
I85F |
possibly damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,309 (GRCm39) |
R88G |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,232,052 (GRCm39) |
S821P |
possibly damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,507,647 (GRCm39) |
Y213C |
probably damaging |
Het |
| Wdr55 |
C |
A |
18: 36,893,437 (GRCm39) |
P33Q |
probably damaging |
Het |
| Yrdc |
C |
T |
4: 124,745,739 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,851 (GRCm39) |
K1030* |
probably null |
Het |
| Zfp618 |
T |
A |
4: 63,050,555 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TTCCAAGCTCTTGCGCAAAG -3'
(R):5'- CACTAATGAGGTAGGGCTTGTG -3'
Sequencing Primer
(F):5'- CAGCCGCCAGAAGTGGATTG -3'
(R):5'- GGGCTTGTGTAGATACCTATAAAAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation