Incidental Mutation 'IGL02904:Tmtc1'
| ID |
363762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmtc1
|
| Ensembl Gene |
ENSMUSG00000030306 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
148133928-148345887 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 148150980 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 |
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,620,990 (GRCm39) |
S564P |
probably damaging |
Het |
| A1cf |
A |
C |
19: 31,912,206 (GRCm39) |
K432N |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,307,428 (GRCm39) |
D476E |
probably benign |
Het |
| Aqp9 |
T |
A |
9: 71,045,430 (GRCm39) |
I60F |
probably damaging |
Het |
| B2m |
A |
C |
2: 121,981,642 (GRCm39) |
|
probably benign |
Het |
| B3galt1 |
T |
A |
2: 67,949,089 (GRCm39) |
V268E |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,306,149 (GRCm39) |
L1299P |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Ces2e |
C |
T |
8: 105,657,970 (GRCm39) |
P356L |
probably benign |
Het |
| Crmp1 |
A |
T |
5: 37,446,262 (GRCm39) |
K639N |
possibly damaging |
Het |
| Ddx17 |
G |
A |
15: 79,414,638 (GRCm39) |
R510* |
probably null |
Het |
| Dner |
C |
T |
1: 84,512,665 (GRCm39) |
V301M |
probably damaging |
Het |
| Efr3b |
T |
G |
12: 4,034,583 (GRCm39) |
I196L |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,561 (GRCm39) |
I27T |
probably benign |
Het |
| Glis3 |
A |
G |
19: 28,335,352 (GRCm39) |
F571L |
possibly damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,803 (GRCm39) |
I51V |
probably benign |
Het |
| Gm5592 |
T |
C |
7: 40,937,810 (GRCm39) |
L364P |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,111,396 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
G |
4: 129,544,480 (GRCm39) |
I411T |
probably benign |
Het |
| Lcn11 |
A |
G |
2: 25,669,278 (GRCm39) |
D145G |
probably null |
Het |
| Lrrc37 |
A |
C |
11: 103,507,187 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,337,784 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,536,851 (GRCm39) |
K42E |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,576,069 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,171,765 (GRCm39) |
D55G |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,804,632 (GRCm39) |
C445* |
probably null |
Het |
| Naca |
C |
T |
10: 127,879,159 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,666 (GRCm39) |
Y625C |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,074,715 (GRCm39) |
C827S |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,347 (GRCm39) |
N100I |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,457,623 (GRCm39) |
T183S |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,552,099 (GRCm39) |
S117P |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,393 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,729 (GRCm39) |
L31Q |
probably null |
Het |
| Picalm |
G |
A |
7: 89,825,619 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,450 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,386,574 (GRCm39) |
V831A |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 12,991,321 (GRCm39) |
I456T |
probably damaging |
Het |
| Snx3 |
A |
G |
10: 42,410,690 (GRCm39) |
H110R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,679,432 (GRCm39) |
D635G |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,124,108 (GRCm39) |
I212L |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,099,845 (GRCm39) |
Y192* |
probably null |
Het |
| Trappc14 |
C |
T |
5: 138,258,864 (GRCm39) |
V232I |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,097 (GRCm39) |
E499D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,562,375 (GRCm39) |
N28823K |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,388,349 (GRCm39) |
G2146* |
probably null |
Het |
| Ush2a |
G |
T |
1: 188,638,703 (GRCm39) |
V4038L |
probably benign |
Het |
| Zc3h7a |
T |
G |
16: 10,968,530 (GRCm39) |
D483A |
probably damaging |
Het |
| Zfyve19 |
T |
C |
2: 119,040,953 (GRCm39) |
|
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 |
|
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 |
|
|
R4355:Tmtc1
|
UTSW |
6 |
148,256,596 (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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation