Incidental Mutation 'IGL00826:Trappc13'
| ID |
8438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trappc13
|
| Ensembl Gene |
ENSMUSG00000021711 |
| Gene Name |
trafficking protein particle complex 13 |
| Synonyms |
2610524F24Rik, 2410002O22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
IGL00826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104278661-104314974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104281016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 349
(S349T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022224]
[ENSMUST00000044385]
[ENSMUST00000141557]
[ENSMUST00000144060]
[ENSMUST00000159574]
[ENSMUST00000179891]
|
| AlphaFold |
Q3TIR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022224
AA Change: S349T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711
AA Change: S349T
| 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: ENSMUST00000044385
|
| SMART Domains |
Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SGTA_dimer
|
3 |
64 |
2.4e-19 |
PFAM |
|
TPR
|
85 |
118 |
9.45e-6 |
SMART |
|
TPR
|
119 |
152 |
1.01e-5 |
SMART |
|
TPR
|
153 |
186 |
3.21e-8 |
SMART |
|
Blast:STI1
|
213 |
254 |
5e-9 |
BLAST |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141557
AA Change: S348T
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711
AA Change: S348T
| 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 benign
Transcript: ENSMUST00000144060
AA Change: S343T
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711
AA Change: S343T
| 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: ENSMUST00000159574
|
| SMART Domains |
Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
42 |
75 |
9.45e-6 |
SMART |
|
TPR
|
76 |
109 |
1.01e-5 |
SMART |
|
TPR
|
110 |
143 |
3.21e-8 |
SMART |
|
Blast:STI1
|
170 |
207 |
5e-9 |
BLAST |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179891
AA Change: S349T
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711
AA Change: S349T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,766,932 (GRCm39) |
S105A |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,075,041 (GRCm39) |
P136L |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,327,195 (GRCm39) |
N376K |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,246,219 (GRCm39) |
Y192* |
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,727,949 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,474,167 (GRCm39) |
I91K |
possibly damaging |
Het |
| Diablo |
T |
C |
5: 123,650,751 (GRCm39) |
I179M |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,768 (GRCm39) |
V2610M |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,372 (GRCm39) |
A696T |
probably damaging |
Het |
| Eaf2 |
A |
T |
16: 36,621,038 (GRCm39) |
M218K |
probably benign |
Het |
| Emc9 |
G |
T |
14: 55,822,377 (GRCm39) |
L64I |
possibly damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,317,620 (GRCm39) |
S46P |
probably benign |
Het |
| Galnt7 |
A |
T |
8: 57,993,105 (GRCm39) |
Y405* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,734,753 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,757 (GRCm39) |
Q1191R |
possibly damaging |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,455,971 (GRCm39) |
V2408A |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,126,884 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
A |
T |
10: 111,108,181 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
G |
T |
11: 77,906,332 (GRCm39) |
R282L |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,174,881 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,582,683 (GRCm39) |
N98D |
possibly damaging |
Het |
| Prl7a1 |
A |
G |
13: 27,824,778 (GRCm39) |
V19A |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,085 (GRCm39) |
|
noncoding transcript |
Het |
| Spag11b |
T |
G |
8: 19,191,423 (GRCm39) |
V33G |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Trappc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation