Incidental Mutation 'IGL02408:Trpc4ap'
| ID |
292190 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trpc4ap
|
| Ensembl Gene |
ENSMUSG00000038324 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 4 associated protein |
| Synonyms |
Trrp4ap, 4833429F06Rik, Trp4-associated protein TAP1, D2Ertd113e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
IGL02408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155512989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 129
(Y129N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
| AlphaFold |
Q9JLV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041059
AA Change: Y129N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324
AA Change: Y129N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF3689
|
407 |
714 |
5.2e-135 |
PFAM |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103140
AA Change: Y129N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324
AA Change: Y129N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF3689
|
399 |
710 |
1.1e-138 |
PFAM |
|
low complexity region
|
716 |
727 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152548
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,621,130 (GRCm39) |
Y278C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,444 (GRCm39) |
L498P |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,615,578 (GRCm39) |
F271S |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,454,217 (GRCm39) |
Y185N |
probably damaging |
Het |
| Adcy10 |
C |
T |
1: 165,365,949 (GRCm39) |
R489C |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,930,670 (GRCm39) |
T213A |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,291,858 (GRCm39) |
C11* |
probably null |
Het |
| B3galt6 |
A |
T |
4: 156,076,152 (GRCm39) |
Y308N |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Crat |
T |
A |
2: 30,297,146 (GRCm39) |
D269V |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,083 (GRCm39) |
I427N |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,298 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,407,776 (GRCm39) |
V374E |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,273,352 (GRCm39) |
S519P |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,945 (GRCm39) |
R474H |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,058,361 (GRCm39) |
T459A |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,272,770 (GRCm39) |
L828P |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,593,255 (GRCm39) |
S55G |
probably benign |
Het |
| Gm6455 |
T |
G |
5: 10,917,257 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
T |
C |
9: 107,493,393 (GRCm39) |
T280A |
probably benign |
Het |
| Hmgn2 |
A |
G |
4: 133,693,260 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
G |
T |
10: 67,062,161 (GRCm39) |
A1505S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,982,142 (GRCm39) |
K1393E |
probably benign |
Het |
| Mcam |
A |
G |
9: 44,051,547 (GRCm39) |
N469D |
probably benign |
Het |
| Mrpl47 |
A |
G |
3: 32,790,789 (GRCm39) |
|
probably null |
Het |
| Mslnl |
C |
T |
17: 25,966,972 (GRCm39) |
A659V |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,456 (GRCm39) |
V598A |
probably benign |
Het |
| Npff |
A |
T |
15: 102,433,000 (GRCm39) |
L15Q |
probably null |
Het |
| Obsl1 |
G |
T |
1: 75,481,890 (GRCm39) |
Q327K |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,844 (GRCm39) |
V255A |
probably damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,315 (GRCm39) |
M1L |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or7e165 |
A |
T |
9: 19,694,711 (GRCm39) |
Y94F |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,518,417 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,375,851 (GRCm39) |
H1428L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,203 (GRCm39) |
E414G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,106,617 (GRCm39) |
D3251G |
probably benign |
Het |
| Secisbp2l |
G |
T |
2: 125,582,789 (GRCm39) |
S889* |
probably null |
Het |
| Setx |
T |
A |
2: 29,023,942 (GRCm39) |
C133S |
probably damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,649 (GRCm39) |
S214A |
probably benign |
Het |
| Slc30a5 |
A |
C |
13: 100,950,232 (GRCm39) |
L285R |
probably damaging |
Het |
| Taar7a |
T |
G |
10: 23,868,500 (GRCm39) |
I294L |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,485 (GRCm39) |
F414I |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,473,523 (GRCm39) |
E501G |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,439,070 (GRCm39) |
H709R |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,004 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,640,426 (GRCm39) |
H223Q |
probably benign |
Het |
|
| Other mutations in Trpc4ap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Trpc4ap
|
APN |
2 |
155,481,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02149:Trpc4ap
|
APN |
2 |
155,481,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02313:Trpc4ap
|
APN |
2 |
155,492,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Trpc4ap
|
UTSW |
2 |
155,482,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0057:Trpc4ap
|
UTSW |
2 |
155,482,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Trpc4ap
|
UTSW |
2 |
155,499,866 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Trpc4ap
|
UTSW |
2 |
155,478,180 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0382:Trpc4ap
|
UTSW |
2 |
155,478,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Trpc4ap
|
UTSW |
2 |
155,482,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1184:Trpc4ap
|
UTSW |
2 |
155,486,990 (GRCm39) |
splice site |
probably benign |
|
|
R1711:Trpc4ap
|
UTSW |
2 |
155,499,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2113:Trpc4ap
|
UTSW |
2 |
155,499,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3810:Trpc4ap
|
UTSW |
2 |
155,485,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Trpc4ap
|
UTSW |
2 |
155,482,427 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4664:Trpc4ap
|
UTSW |
2 |
155,514,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4690:Trpc4ap
|
UTSW |
2 |
155,477,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5347:Trpc4ap
|
UTSW |
2 |
155,514,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5655:Trpc4ap
|
UTSW |
2 |
155,495,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5689:Trpc4ap
|
UTSW |
2 |
155,512,955 (GRCm39) |
splice site |
probably null |
|
|
R5828:Trpc4ap
|
UTSW |
2 |
155,477,130 (GRCm39) |
intron |
probably benign |
|
|
R5894:Trpc4ap
|
UTSW |
2 |
155,508,133 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6056:Trpc4ap
|
UTSW |
2 |
155,512,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Trpc4ap
|
UTSW |
2 |
155,505,627 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6539:Trpc4ap
|
UTSW |
2 |
155,478,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6682:Trpc4ap
|
UTSW |
2 |
155,479,687 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7022:Trpc4ap
|
UTSW |
2 |
155,499,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7031:Trpc4ap
|
UTSW |
2 |
155,534,135 (GRCm39) |
missense |
unknown |
|
|
R8527:Trpc4ap
|
UTSW |
2 |
155,534,132 (GRCm39) |
missense |
unknown |
|
|
R8542:Trpc4ap
|
UTSW |
2 |
155,534,132 (GRCm39) |
missense |
unknown |
|
|
R8687:Trpc4ap
|
UTSW |
2 |
155,477,170 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8955:Trpc4ap
|
UTSW |
2 |
155,508,171 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0018:Trpc4ap
|
UTSW |
2 |
155,495,484 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation