Incidental Mutation 'R0619:Trappc14'
ID |
58526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
038808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0619 (G1)
|
Quality Score |
220 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 138262088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159123]
[ENSMUST00000161647]
[ENSMUST00000159067]
[ENSMUST00000159146]
[ENSMUST00000159649]
[ENSMUST00000161279]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000048421
AA Change: S3P
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: S3P
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
71 |
N/A |
INTRINSIC |
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
low complexity region
|
215 |
225 |
N/A |
INTRINSIC |
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100530
|
SMART Domains |
Protein: ENSMUSP00000098099 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124298
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159123
AA Change: S3P
|
SMART Domains |
Protein: ENSMUSP00000137679 Gene: ENSMUSG00000036948 AA Change: S3P
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
71 |
N/A |
INTRINSIC |
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161647
|
SMART Domains |
Protein: ENSMUSP00000125084 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
4 |
226 |
5.3e-58 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
265 |
458 |
3.8e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159067
|
SMART Domains |
Protein: ENSMUSP00000125178 Gene: ENSMUSG00000106247
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159146
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159649
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161279
|
SMART Domains |
Protein: ENSMUSP00000124841 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000164203
AA Change: S3P
|
SMART Domains |
Protein: ENSMUSP00000127440 Gene: ENSMUSG00000091964 AA Change: S3P
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
71 |
N/A |
INTRINSIC |
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
Pfam:DUF4707
|
139 |
579 |
4.7e-252 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170479
AA Change: S70P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,462,742 (GRCm39) |
N110K |
probably benign |
Het |
Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,710,840 (GRCm39) |
D441G |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
Rnf6 |
G |
A |
5: 146,147,531 (GRCm39) |
R496C |
possibly damaging |
Het |
Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,579,669 (GRCm39) |
N328I |
probably damaging |
Het |
Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
Usp16 |
A |
T |
16: 87,269,052 (GRCm39) |
H315L |
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
probably benign |
Het |
|
Other mutations in Trappc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Trappc14
|
APN |
5 |
138,259,967 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01617:Trappc14
|
APN |
5 |
138,260,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02256:Trappc14
|
APN |
5 |
138,258,577 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02493:Trappc14
|
APN |
5 |
138,261,432 (GRCm39) |
splice site |
probably null |
|
IGL02904:Trappc14
|
APN |
5 |
138,258,864 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03151:Trappc14
|
APN |
5 |
138,260,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0005:Trappc14
|
UTSW |
5 |
138,260,916 (GRCm39) |
splice site |
probably null |
|
R0010:Trappc14
|
UTSW |
5 |
138,258,555 (GRCm39) |
splice site |
probably null |
|
R0010:Trappc14
|
UTSW |
5 |
138,258,555 (GRCm39) |
splice site |
probably null |
|
R0630:Trappc14
|
UTSW |
5 |
138,260,551 (GRCm39) |
missense |
probably damaging |
0.98 |
R1579:Trappc14
|
UTSW |
5 |
138,260,128 (GRCm39) |
missense |
probably benign |
0.00 |
R1778:Trappc14
|
UTSW |
5 |
138,260,739 (GRCm39) |
splice site |
probably null |
|
R1816:Trappc14
|
UTSW |
5 |
138,258,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2009:Trappc14
|
UTSW |
5 |
138,259,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Trappc14
|
UTSW |
5 |
138,261,167 (GRCm39) |
unclassified |
probably benign |
|
R4923:Trappc14
|
UTSW |
5 |
138,260,641 (GRCm39) |
unclassified |
probably benign |
|
R4999:Trappc14
|
UTSW |
5 |
138,259,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Trappc14
|
UTSW |
5 |
138,260,562 (GRCm39) |
missense |
probably benign |
0.15 |
R5221:Trappc14
|
UTSW |
5 |
138,260,502 (GRCm39) |
missense |
probably benign |
0.14 |
R5444:Trappc14
|
UTSW |
5 |
138,259,260 (GRCm39) |
splice site |
probably null |
|
R5720:Trappc14
|
UTSW |
5 |
138,261,964 (GRCm39) |
missense |
probably benign |
0.00 |
R6519:Trappc14
|
UTSW |
5 |
138,260,110 (GRCm39) |
missense |
probably damaging |
0.99 |
R6599:Trappc14
|
UTSW |
5 |
138,261,720 (GRCm39) |
splice site |
probably null |
|
R6918:Trappc14
|
UTSW |
5 |
138,258,926 (GRCm39) |
missense |
probably benign |
0.03 |
R7275:Trappc14
|
UTSW |
5 |
138,261,839 (GRCm39) |
missense |
probably benign |
0.18 |
R7460:Trappc14
|
UTSW |
5 |
138,260,991 (GRCm39) |
missense |
probably benign |
0.32 |
R7564:Trappc14
|
UTSW |
5 |
138,261,104 (GRCm39) |
splice site |
probably null |
|
R8745:Trappc14
|
UTSW |
5 |
138,261,327 (GRCm39) |
critical splice donor site |
probably null |
|
R9043:Trappc14
|
UTSW |
5 |
138,259,889 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9057:Trappc14
|
UTSW |
5 |
138,260,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9540:Trappc14
|
UTSW |
5 |
138,260,127 (GRCm39) |
missense |
probably benign |
0.28 |
R9607:Trappc14
|
UTSW |
5 |
138,259,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Trappc14
|
UTSW |
5 |
138,259,940 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCACCCAGAGATCCTCACCG -3'
(R):5'- CCTTAAAGGTTCCTCAGCAGCCC -3'
Sequencing Primer
(F):5'- GGGCTGCAACCTCGAAAC -3'
(R):5'- TCAGCCAAGAAGCCTCGG -3'
|
Posted On |
2013-07-11 |