Incidental Mutation 'IGL02149:Trpc4ap'
ID |
281911 |
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 # |
IGL02149
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 155481467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 530
(A530S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
AlphaFold |
Q9JLV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041059
AA Change: A538S
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000037574 Gene: ENSMUSG00000038324 AA Change: A538S
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 |
probably damaging
Transcript: ENSMUST00000103140
AA Change: A530S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099429 Gene: ENSMUSG00000038324 AA Change: A530S
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: ENSMUST00000140370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146484
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153246
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
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 |
IGL02313:Trpc4ap
|
APN |
2 |
155,492,388 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02408:Trpc4ap
|
APN |
2 |
155,512,989 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |