Incidental Mutation 'R3756:Trappc13'
| ID |
271451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc13
|
| Ensembl Gene |
ENSMUSG00000021711 |
| Gene Name |
trafficking protein particle complex 13 |
| Synonyms |
2610524F24Rik, 2410002O22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R3756 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104278661-104314974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104305068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 40
(D40N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022224]
[ENSMUST00000141557]
[ENSMUST00000144060]
[ENSMUST00000179891]
|
| AlphaFold |
Q3TIR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022224
AA Change: D40N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711
AA Change: D40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
298 |
1.3e-87 |
PFAM |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141557
AA Change: D40N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711
AA Change: D40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
299 |
1.6e-88 |
PFAM |
|
low complexity region
|
365 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144060
AA Change: D40N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711
AA Change: D40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
293 |
4.4e-87 |
PFAM |
|
low complexity region
|
360 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179891
AA Change: D40N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711
AA Change: D40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
299 |
1e-87 |
PFAM |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,963,119 (GRCm39) |
C805R |
probably benign |
Het |
| Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,145,449 (GRCm39) |
|
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,827,609 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,111,794 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,495,566 (GRCm39) |
S273T |
probably damaging |
Het |
| Cyb5d1 |
G |
T |
11: 69,284,658 (GRCm39) |
R165S |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,030 (GRCm39) |
K546R |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,720 (GRCm39) |
V250E |
probably damaging |
Het |
| Dnm1l |
G |
T |
16: 16,139,476 (GRCm39) |
A406D |
possibly damaging |
Het |
| Efs |
G |
A |
14: 55,157,879 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,918,238 (GRCm39) |
S424A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,470,215 (GRCm39) |
T83A |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm9970 |
G |
C |
5: 31,398,117 (GRCm39) |
|
probably benign |
Het |
| H2az2 |
A |
G |
11: 6,383,761 (GRCm39) |
V53A |
possibly damaging |
Het |
| Inpp5d |
G |
A |
1: 87,629,130 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,284 (GRCm39) |
S256P |
possibly damaging |
Het |
| Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Mtss2 |
C |
T |
8: 111,456,692 (GRCm39) |
S192L |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,175,443 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,152,650 (GRCm39) |
Y666N |
probably benign |
Het |
| Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,608,271 (GRCm39) |
L333P |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,942,526 (GRCm39) |
|
probably benign |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Rbmx2 |
T |
A |
X: 47,797,890 (GRCm39) |
S143T |
possibly damaging |
Het |
| Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
| Rxra |
A |
C |
2: 27,631,923 (GRCm39) |
Q198P |
probably damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,982,208 (GRCm39) |
Y42* |
probably null |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,623 (GRCm39) |
L138P |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,863 (GRCm39) |
S152G |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,135,982 (GRCm39) |
C109R |
possibly damaging |
Het |
|
| Other mutations in Trappc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00826:Trappc13
|
APN |
13 |
104,281,016 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01930:Trappc13
|
APN |
13 |
104,284,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL02637:Trappc13
|
APN |
13 |
104,286,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0470:Trappc13
|
UTSW |
13 |
104,297,512 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0620:Trappc13
|
UTSW |
13 |
104,297,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Trappc13
|
UTSW |
13 |
104,291,424 (GRCm39) |
splice site |
probably benign |
|
|
R1402:Trappc13
|
UTSW |
13 |
104,286,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Trappc13
|
UTSW |
13 |
104,286,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Trappc13
|
UTSW |
13 |
104,286,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Trappc13
|
UTSW |
13 |
104,306,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Trappc13
|
UTSW |
13 |
104,311,150 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3755:Trappc13
|
UTSW |
13 |
104,305,068 (GRCm39) |
missense |
probably benign |
|
|
R3918:Trappc13
|
UTSW |
13 |
104,297,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Trappc13
|
UTSW |
13 |
104,303,329 (GRCm39) |
intron |
probably benign |
|
|
R4916:Trappc13
|
UTSW |
13 |
104,290,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5590:Trappc13
|
UTSW |
13 |
104,284,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Trappc13
|
UTSW |
13 |
104,286,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6862:Trappc13
|
UTSW |
13 |
104,286,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Trappc13
|
UTSW |
13 |
104,283,845 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8049:Trappc13
|
UTSW |
13 |
104,281,052 (GRCm39) |
missense |
probably benign |
|
|
R8377:Trappc13
|
UTSW |
13 |
104,297,509 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9280:Trappc13
|
UTSW |
13 |
104,290,809 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9380:Trappc13
|
UTSW |
13 |
104,280,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTTCCTACTCTGTAGACAAACATG -3'
(R):5'- AGCCCAGCCAAATCTGAATTG -3'
Sequencing Primer
(F):5'- ACATGATATAACAGTTTTCAGGGAC -3'
(R):5'- TTAGCTGGAGCAGTTCAACC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation