Incidental Mutation 'R2067:Ttll4'
| ID |
226722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
040072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R2067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74719541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 16
(R16H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: R464H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: R464H
| 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: R464H
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: R464H
| 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 |
possibly damaging
Transcript: ENSMUST00000129890
AA Change: R29H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257
AA Change: R29H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141119
AA Change: R16H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257
AA Change: R16H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143925
|
| Meta Mutation Damage Score |
0.0975 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (76/78) |
| 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 |
|---|
| 9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
| Acin1 |
T |
A |
14: 54,902,711 (GRCm39) |
Q360H |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,971,755 (GRCm39) |
D72V |
probably benign |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,856 (GRCm39) |
|
probably benign |
Het |
| Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,429 (GRCm39) |
T2295M |
probably benign |
Het |
| Ccdc9 |
A |
T |
7: 16,012,475 (GRCm39) |
|
probably null |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 15,950,782 (GRCm39) |
S3476P |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,508,907 (GRCm39) |
M336K |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Epha1 |
G |
T |
6: 42,342,987 (GRCm39) |
H187Q |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,207,525 (GRCm39) |
S330P |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,453 (GRCm39) |
W577* |
probably null |
Het |
| Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
| Gc |
T |
A |
5: 89,594,376 (GRCm39) |
K37N |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,034,736 (GRCm39) |
I178T |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
| Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
| Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
| Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
| Krt4 |
C |
A |
15: 101,833,099 (GRCm39) |
A3S |
possibly damaging |
Het |
| Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,622 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
| Myo1a |
A |
G |
10: 127,541,347 (GRCm39) |
N43D |
probably benign |
Het |
| Napa |
A |
T |
7: 15,849,203 (GRCm39) |
|
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,056,569 (GRCm39) |
D99G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,460,196 (GRCm39) |
S41P |
probably damaging |
Het |
| Nolc1 |
C |
T |
19: 46,072,046 (GRCm39) |
T612M |
probably damaging |
Het |
| Nsun5 |
T |
G |
5: 135,403,926 (GRCm39) |
Y301D |
probably damaging |
Het |
| Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or6ae1 |
T |
A |
7: 139,742,822 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
| Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,844,896 (GRCm39) |
N957D |
probably benign |
Het |
| Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,027,349 (GRCm39) |
S1283P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,274,926 (GRCm39) |
R5W |
probably benign |
Het |
| Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,050,388 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
C |
A |
15: 97,664,842 (GRCm39) |
G7V |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,340 (GRCm39) |
S491R |
probably benign |
Het |
| Rnf141 |
A |
G |
7: 110,420,572 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,302 (GRCm39) |
R285Q |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,598,465 (GRCm39) |
N125S |
probably benign |
Het |
| Schip1 |
A |
G |
3: 68,525,119 (GRCm39) |
K360R |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 79,997,151 (GRCm39) |
V55E |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
| Slc25a16 |
T |
A |
10: 62,768,530 (GRCm39) |
H130Q |
probably benign |
Het |
| Styx |
T |
C |
14: 45,611,020 (GRCm39) |
V217A |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,935,116 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
| Tatdn2 |
A |
G |
6: 113,681,103 (GRCm39) |
K379E |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,416,385 (GRCm39) |
L135P |
probably damaging |
Het |
| Tmc1 |
A |
G |
19: 20,801,673 (GRCm39) |
F451S |
possibly damaging |
Het |
| Trpm7 |
G |
A |
2: 126,639,647 (GRCm39) |
P1650S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,988,692 (GRCm39) |
E803G |
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,412 (GRCm39) |
D221G |
probably damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,515 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,264 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,553 (GRCm39) |
H412L |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,935 (GRCm39) |
N129S |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
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 |
|
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'- TGGACAGCACAGTCTTCTG -3'
(R):5'- TGCAAGCTACTTTTCTAATCACCAC -3'
Sequencing Primer
(F):5'- GTCTTCTGTACCAAGAGGATCAGC -3'
(R):5'- GTGAAAACTAAAACTTCTAGGACAGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation