Incidental Mutation 'R4355:Tmtc1'
ID |
327486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmtc1
|
Ensembl Gene |
ENSMUSG00000030306 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 1 |
Synonyms |
|
MMRRC Submission |
041108-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R4355 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
148133928-148345887 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 148256596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060095]
[ENSMUST00000100772]
[ENSMUST00000140797]
|
AlphaFold |
Q3UV71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060095
|
SMART Domains |
Protein: ENSMUSP00000056353 Gene: ENSMUSG00000030306
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
351 |
425 |
1.3e-33 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
TPR
|
543 |
576 |
2.42e-3 |
SMART |
TPR
|
577 |
607 |
8.76e-1 |
SMART |
TPR
|
608 |
641 |
1.69e-2 |
SMART |
TPR
|
642 |
675 |
1.28e-2 |
SMART |
TPR
|
676 |
709 |
4.31e0 |
SMART |
TPR
|
710 |
743 |
1.11e-2 |
SMART |
TPR
|
744 |
776 |
4.62e0 |
SMART |
TPR
|
811 |
844 |
1.1e-1 |
SMART |
TPR
|
849 |
882 |
4.45e-2 |
SMART |
TPR
|
883 |
916 |
1.05e-3 |
SMART |
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000071745
|
SMART Domains |
Protein: ENSMUSP00000071658 Gene: ENSMUSG00000063171
Domain | Start | End | E-Value | Type |
Pfam:RS4NT
|
3 |
39 |
4.3e-24 |
PFAM |
S4
|
42 |
106 |
1.23e-5 |
SMART |
Pfam:KOW
|
177 |
211 |
4.3e-8 |
PFAM |
Pfam:40S_S4_C
|
212 |
259 |
1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100772
|
SMART Domains |
Protein: ENSMUSP00000098335 Gene: ENSMUSG00000030306
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
349 |
427 |
6.9e-35 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
TPR
|
539 |
569 |
8.76e-1 |
SMART |
TPR
|
570 |
603 |
1.69e-2 |
SMART |
TPR
|
604 |
637 |
1.28e-2 |
SMART |
TPR
|
638 |
671 |
4.31e0 |
SMART |
TPR
|
672 |
705 |
1.11e-2 |
SMART |
TPR
|
706 |
738 |
4.62e0 |
SMART |
TPR
|
773 |
806 |
1.1e-1 |
SMART |
TPR
|
811 |
844 |
4.45e-2 |
SMART |
TPR
|
845 |
878 |
1.05e-3 |
SMART |
low complexity region
|
888 |
903 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140797
|
SMART Domains |
Protein: ENSMUSP00000115543 Gene: ENSMUSG00000030306
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
259 |
337 |
9.9e-36 |
PFAM |
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
Pfam:TPR_12
|
449 |
516 |
9.6e-10 |
PFAM |
Pfam:TPR_11
|
451 |
498 |
1.3e-9 |
PFAM |
Pfam:TPR_1
|
453 |
486 |
5.7e-6 |
PFAM |
Pfam:TPR_2
|
453 |
486 |
2.6e-7 |
PFAM |
Pfam:TPR_8
|
453 |
486 |
6.5e-4 |
PFAM |
Pfam:TPR_1
|
487 |
517 |
1.6e-3 |
PFAM |
Pfam:TPR_8
|
496 |
518 |
1.5e-3 |
PFAM |
low complexity region
|
521 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204618
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
G |
8: 44,023,222 (GRCm39) |
Q89H |
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,415,511 (GRCm39) |
F697S |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,544,788 (GRCm39) |
V769E |
probably damaging |
Het |
Aldh7a1 |
A |
T |
18: 56,681,566 (GRCm39) |
F173L |
probably null |
Het |
Bcl3 |
G |
T |
7: 19,545,505 (GRCm39) |
C208* |
probably null |
Het |
Bmal1 |
A |
G |
7: 112,902,613 (GRCm39) |
I421V |
possibly damaging |
Het |
Casz1 |
T |
C |
4: 149,036,792 (GRCm39) |
S1685P |
unknown |
Het |
Cep250 |
A |
G |
2: 155,833,445 (GRCm39) |
E1789G |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,759,710 (GRCm39) |
D334E |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,531,219 (GRCm39) |
|
probably null |
Het |
Col9a3 |
A |
G |
2: 180,248,271 (GRCm39) |
S208G |
probably benign |
Het |
Ddx47 |
T |
C |
6: 134,998,468 (GRCm39) |
V388A |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,599,333 (GRCm39) |
A1896V |
possibly damaging |
Het |
Eif2ak2 |
T |
A |
17: 79,165,963 (GRCm39) |
R411S |
probably benign |
Het |
F7 |
A |
G |
8: 13,084,774 (GRCm39) |
T267A |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,848,101 (GRCm39) |
D1770E |
probably benign |
Het |
G2e3 |
T |
A |
12: 51,412,120 (GRCm39) |
Y387N |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,256,729 (GRCm39) |
L1491F |
probably damaging |
Het |
Ighv3-4 |
T |
C |
12: 114,217,260 (GRCm39) |
I110M |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,665,367 (GRCm39) |
C28S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,472,342 (GRCm39) |
N132S |
probably benign |
Het |
Kbtbd11 |
C |
A |
8: 15,078,578 (GRCm39) |
N392K |
probably damaging |
Het |
Kcnmb4 |
A |
G |
10: 116,309,189 (GRCm39) |
S80P |
possibly damaging |
Het |
Kif21a |
C |
T |
15: 90,855,036 (GRCm39) |
C721Y |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klrc3 |
T |
C |
6: 129,616,125 (GRCm39) |
M189V |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,368,884 (GRCm39) |
E394V |
possibly damaging |
Het |
Mrgprb4 |
C |
T |
7: 47,848,449 (GRCm39) |
G160R |
possibly damaging |
Het |
Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
Nf2 |
G |
A |
11: 4,730,613 (GRCm39) |
Q513* |
probably null |
Het |
Nmnat3 |
C |
T |
9: 98,292,205 (GRCm39) |
T150M |
possibly damaging |
Het |
Obi1 |
A |
G |
14: 104,716,693 (GRCm39) |
V560A |
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,216 (GRCm39) |
C116R |
possibly damaging |
Het |
Or12k8 |
C |
A |
2: 36,974,942 (GRCm39) |
V273F |
probably benign |
Het |
Patj |
T |
G |
4: 98,538,691 (GRCm39) |
C210W |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,015,522 (GRCm39) |
H246R |
probably benign |
Het |
Pnp2 |
A |
G |
14: 51,197,082 (GRCm39) |
H56R |
probably benign |
Het |
Prkg1 |
A |
G |
19: 30,546,629 (GRCm39) |
|
probably benign |
Het |
Rhbdf1 |
C |
T |
11: 32,166,236 (GRCm39) |
S8N |
probably damaging |
Het |
Rimbp3 |
A |
G |
16: 17,027,556 (GRCm39) |
K327E |
possibly damaging |
Het |
Rsph6a |
T |
A |
7: 18,801,003 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
C |
13: 11,664,698 (GRCm39) |
N3535S |
probably benign |
Het |
Ston1 |
T |
G |
17: 88,944,436 (GRCm39) |
V614G |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,138,695 (GRCm39) |
T466S |
possibly damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,144 (GRCm39) |
I262N |
probably benign |
Het |
Tshz2 |
G |
A |
2: 169,726,858 (GRCm39) |
E16K |
possibly damaging |
Het |
Ufsp2 |
T |
A |
8: 46,438,502 (GRCm39) |
S193R |
possibly damaging |
Het |
Ugt2b5 |
C |
A |
5: 87,287,622 (GRCm39) |
E182* |
probably null |
Het |
Usp43 |
A |
G |
11: 67,782,290 (GRCm39) |
V376A |
probably benign |
Het |
Utp15 |
A |
T |
13: 98,395,755 (GRCm39) |
F76I |
possibly damaging |
Het |
Wdr62 |
A |
C |
7: 29,941,673 (GRCm39) |
L1141R |
probably damaging |
Het |
Zfp418 |
T |
A |
7: 7,175,161 (GRCm39) |
M18K |
probably benign |
Het |
|
Other mutations in Tmtc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Tmtc1
|
APN |
6 |
148,345,442 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01377:Tmtc1
|
APN |
6 |
148,147,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01728:Tmtc1
|
APN |
6 |
148,312,564 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02904:Tmtc1
|
APN |
6 |
148,150,980 (GRCm39) |
splice site |
probably benign |
|
R0044:Tmtc1
|
UTSW |
6 |
148,314,327 (GRCm39) |
splice site |
probably benign |
|
R0107:Tmtc1
|
UTSW |
6 |
148,327,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0114:Tmtc1
|
UTSW |
6 |
148,314,328 (GRCm39) |
splice site |
probably benign |
|
R0243:Tmtc1
|
UTSW |
6 |
148,148,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Tmtc1
|
UTSW |
6 |
148,151,079 (GRCm39) |
missense |
probably benign |
0.00 |
R0441:Tmtc1
|
UTSW |
6 |
148,317,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R0491:Tmtc1
|
UTSW |
6 |
148,314,138 (GRCm39) |
critical splice donor site |
probably null |
|
R0578:Tmtc1
|
UTSW |
6 |
148,256,716 (GRCm39) |
intron |
probably benign |
|
R0685:Tmtc1
|
UTSW |
6 |
148,312,738 (GRCm39) |
missense |
probably benign |
0.39 |
R1470:Tmtc1
|
UTSW |
6 |
148,207,483 (GRCm39) |
splice site |
probably benign |
|
R1533:Tmtc1
|
UTSW |
6 |
148,147,208 (GRCm39) |
critical splice donor site |
probably null |
|
R1577:Tmtc1
|
UTSW |
6 |
148,314,318 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1617:Tmtc1
|
UTSW |
6 |
148,256,902 (GRCm39) |
intron |
probably benign |
|
R1763:Tmtc1
|
UTSW |
6 |
148,196,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Tmtc1
|
UTSW |
6 |
148,345,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1943:Tmtc1
|
UTSW |
6 |
148,327,416 (GRCm39) |
nonsense |
probably null |
|
R2050:Tmtc1
|
UTSW |
6 |
148,164,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R2305:Tmtc1
|
UTSW |
6 |
148,146,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R3813:Tmtc1
|
UTSW |
6 |
148,256,389 (GRCm39) |
intron |
probably benign |
|
R4537:Tmtc1
|
UTSW |
6 |
148,164,280 (GRCm39) |
critical splice donor site |
probably null |
|
R4731:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
R4732:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
R4733:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
R4960:Tmtc1
|
UTSW |
6 |
148,345,445 (GRCm39) |
unclassified |
probably benign |
|
R5048:Tmtc1
|
UTSW |
6 |
148,139,344 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5118:Tmtc1
|
UTSW |
6 |
148,171,485 (GRCm39) |
intron |
probably benign |
|
R5279:Tmtc1
|
UTSW |
6 |
148,256,629 (GRCm39) |
intron |
probably benign |
|
R5310:Tmtc1
|
UTSW |
6 |
148,256,910 (GRCm39) |
intron |
probably benign |
|
R5411:Tmtc1
|
UTSW |
6 |
148,345,397 (GRCm39) |
critical splice donor site |
probably null |
|
R5646:Tmtc1
|
UTSW |
6 |
148,148,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Tmtc1
|
UTSW |
6 |
148,139,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R6482:Tmtc1
|
UTSW |
6 |
148,314,243 (GRCm39) |
missense |
probably benign |
0.00 |
R7162:Tmtc1
|
UTSW |
6 |
148,172,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7462:Tmtc1
|
UTSW |
6 |
148,226,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R7702:Tmtc1
|
UTSW |
6 |
148,345,415 (GRCm39) |
missense |
probably benign |
0.35 |
R8304:Tmtc1
|
UTSW |
6 |
148,172,883 (GRCm39) |
missense |
probably damaging |
0.99 |
R8353:Tmtc1
|
UTSW |
6 |
148,327,346 (GRCm39) |
missense |
probably benign |
0.11 |
R9032:Tmtc1
|
UTSW |
6 |
148,237,749 (GRCm39) |
nonsense |
probably null |
|
R9085:Tmtc1
|
UTSW |
6 |
148,237,749 (GRCm39) |
nonsense |
probably null |
|
R9089:Tmtc1
|
UTSW |
6 |
148,147,215 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9287:Tmtc1
|
UTSW |
6 |
148,186,390 (GRCm39) |
missense |
probably benign |
0.03 |
R9649:Tmtc1
|
UTSW |
6 |
148,144,714 (GRCm39) |
missense |
probably damaging |
1.00 |
RF018:Tmtc1
|
UTSW |
6 |
148,149,009 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tmtc1
|
UTSW |
6 |
148,312,578 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAGGTCGACGGCAAGGTC -3'
(R):5'- TGGCATCTTTCACGTGGACC -3'
Sequencing Primer
(F):5'- TCAGAACCGATGTGGCCTAC -3'
(R):5'- TGGACCACGTCAAAGGAGCC -3'
|
Posted On |
2015-07-07 |