Incidental Mutation 'R1402:Trappc13'
| ID |
188577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc13
|
| Ensembl Gene |
ENSMUSG00000021711 |
| Gene Name |
trafficking protein particle complex 13 |
| Synonyms |
2610524F24Rik, 2410002O22Rik |
| MMRRC Submission |
039464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R1402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104278661-104314974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104286624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022224]
[ENSMUST00000141557]
[ENSMUST00000144060]
[ENSMUST00000179891]
|
| AlphaFold |
Q3TIR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022224
AA Change: V211A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711
AA Change: V211A
| 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 damaging
Transcript: ENSMUST00000141557
AA Change: V211A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711
AA Change: V211A
| 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 |
probably damaging
Transcript: ENSMUST00000144060
AA Change: V205A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711
AA Change: V205A
| 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 damaging
Transcript: ENSMUST00000179891
AA Change: V211A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711
AA Change: V211A
| 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: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,004,528 (GRCm39) |
|
probably benign |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
| H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,313,748 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably 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 |
|
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 |
|
|
R3756: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'- GCCTGGCTCTAAAACAAATGCACTC -3'
(R):5'- GGACTAACACCTCACTTTGCTCCTG -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- TTGCAGGCATGAACTAATCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation