Incidental Mutation 'R1898:Ttll4'
| ID |
212096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
039918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R1898 (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 74736641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1122
(D1122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: D1122G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: D1122G
| 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: D1058G
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: D1058G
| 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: ENSMUST00000128891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145132
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
A |
4: 53,071,977 (GRCm39) |
R1195L |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,850,392 (GRCm39) |
Y748C |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,099,625 (GRCm39) |
F974S |
probably damaging |
Het |
| Acyp1 |
T |
C |
12: 85,335,114 (GRCm39) |
K2E |
probably benign |
Het |
| Ahcy |
T |
A |
2: 154,904,173 (GRCm39) |
S355C |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,525,683 (GRCm39) |
I215T |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,117,601 (GRCm39) |
R828C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,615 (GRCm39) |
I631F |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,532 (GRCm39) |
N789S |
possibly damaging |
Het |
| Brinp3 |
T |
G |
1: 146,776,987 (GRCm39) |
V478G |
possibly damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,608,975 (GRCm39) |
V95M |
probably damaging |
Het |
| Chka |
A |
T |
19: 3,942,205 (GRCm39) |
E404D |
probably damaging |
Het |
| Clec5a |
A |
C |
6: 40,558,870 (GRCm39) |
V72G |
probably benign |
Het |
| Cnn1 |
T |
C |
9: 22,012,560 (GRCm39) |
|
probably null |
Het |
| Coq6 |
A |
G |
12: 84,413,737 (GRCm39) |
E89G |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,754,485 (GRCm39) |
I538F |
possibly damaging |
Het |
| Crx |
G |
A |
7: 15,602,148 (GRCm39) |
P177S |
probably damaging |
Het |
| Cysltr2 |
G |
T |
14: 73,266,973 (GRCm39) |
P246T |
probably damaging |
Het |
| Decr1 |
A |
G |
4: 15,929,801 (GRCm39) |
I164T |
probably damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,178,091 (GRCm39) |
V315E |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,275,874 (GRCm39) |
N2587S |
probably benign |
Het |
| E2f6 |
C |
A |
12: 16,874,581 (GRCm39) |
T221K |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,871,426 (GRCm39) |
D3655A |
probably damaging |
Het |
| Fbxw28 |
G |
A |
9: 109,152,452 (GRCm39) |
T384I |
probably benign |
Het |
| Fes |
T |
A |
7: 80,029,659 (GRCm39) |
I608F |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Gabrb2 |
A |
G |
11: 42,484,659 (GRCm39) |
K239E |
possibly damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,609 (GRCm39) |
R727G |
probably benign |
Het |
| Glb1 |
T |
A |
9: 114,253,103 (GRCm39) |
V184E |
probably damaging |
Het |
| Gngt1 |
A |
T |
6: 3,996,724 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,750,426 (GRCm39) |
I87V |
possibly damaging |
Het |
| Itih1 |
A |
G |
14: 30,654,244 (GRCm39) |
Y674H |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,696,468 (GRCm39) |
C24S |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,662,732 (GRCm39) |
N595S |
probably damaging |
Het |
| Myo5c |
C |
T |
9: 75,204,908 (GRCm39) |
T1587I |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,474,937 (GRCm39) |
F910I |
probably damaging |
Het |
| Nradd |
T |
C |
9: 110,450,676 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,631 (GRCm39) |
E352G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,641,927 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,842 (GRCm39) |
S241T |
probably damaging |
Het |
| Or11g2 |
A |
T |
14: 50,856,231 (GRCm39) |
D184V |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,516 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,722,615 (GRCm39) |
D951G |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,408 (GRCm39) |
F685L |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,943,796 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,298 (GRCm39) |
V94M |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,039 (GRCm39) |
T1542S |
probably benign |
Het |
| Sct |
A |
T |
7: 140,858,761 (GRCm39) |
L57Q |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,317 (GRCm39) |
S316G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,062,613 (GRCm39) |
L1240S |
probably damaging |
Het |
| Slc4a1 |
C |
T |
11: 102,241,133 (GRCm39) |
E924K |
probably damaging |
Het |
| Sp7 |
A |
T |
15: 102,267,453 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,087,936 (GRCm39) |
T219A |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,763,796 (GRCm39) |
P753T |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,523,053 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,742,466 (GRCm39) |
S2675T |
possibly damaging |
Het |
| Tspan12 |
T |
C |
6: 21,795,693 (GRCm39) |
T166A |
probably damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,550 (GRCm39) |
A41T |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,933,064 (GRCm39) |
F276Y |
probably benign |
Het |
| Zdhhc1 |
A |
T |
8: 106,205,378 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
C |
A |
8: 96,055,417 (GRCm39) |
C262F |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,250,582 (GRCm39) |
C383Y |
probably damaging |
Het |
| Zfp57 |
G |
T |
17: 37,320,650 (GRCm39) |
R168L |
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 |
|
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 |
|
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'- CCCCAGATCATGACAGTAAGAGG -3'
(R):5'- TCCCTTGAGGTAGCTGAGTG -3'
Sequencing Primer
(F):5'- AGAATCTGCAGCCACATC -3'
(R):5'- TCACAGCAGTCAAGCGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation