Incidental Mutation 'IGL01926:Trnau1ap'
ID |
180315 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trnau1ap
|
Ensembl Gene |
ENSMUSG00000028898 |
Gene Name |
tRNA selenocysteine 1 associated protein 1 |
Synonyms |
1110007F05Rik, SECp43, Trspap1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
IGL01926
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132039074-132056849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132046873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 141
(F141L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030730
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030730]
[ENSMUST00000105960]
[ENSMUST00000105962]
[ENSMUST00000125513]
[ENSMUST00000127402]
[ENSMUST00000147652]
[ENSMUST00000137520]
|
AlphaFold |
Q80VC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030730
AA Change: F141L
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030730 Gene: ENSMUSG00000028898 AA Change: F141L
Domain | Start | End | E-Value | Type |
RRM
|
4 |
78 |
3.66e-8 |
SMART |
RRM
|
97 |
171 |
2.2e-11 |
SMART |
low complexity region
|
185 |
204 |
N/A |
INTRINSIC |
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105960
|
SMART Domains |
Protein: ENSMUSP00000101580 Gene: ENSMUSG00000028898
Domain | Start | End | E-Value | Type |
PDB:2DHG|A
|
21 |
70 |
9e-25 |
PDB |
SCOP:d1fj7a_
|
22 |
70 |
7e-7 |
SMART |
Blast:RRM
|
31 |
70 |
2e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105962
|
SMART Domains |
Protein: ENSMUSP00000101582 Gene: ENSMUSG00000028898
Domain | Start | End | E-Value | Type |
RRM
|
4 |
78 |
3.66e-8 |
SMART |
PDB:2DHG|A
|
87 |
137 |
7e-24 |
PDB |
SCOP:d1cvja1
|
97 |
137 |
9e-5 |
SMART |
Blast:RRM
|
97 |
138 |
2e-20 |
BLAST |
low complexity region
|
145 |
164 |
N/A |
INTRINSIC |
low complexity region
|
173 |
189 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127402
|
SMART Domains |
Protein: ENSMUSP00000120657 Gene: ENSMUSG00000028898
Domain | Start | End | E-Value | Type |
RRM
|
4 |
78 |
3.66e-8 |
SMART |
low complexity region
|
101 |
120 |
N/A |
INTRINSIC |
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144387
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146166
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147652
|
SMART Domains |
Protein: ENSMUSP00000127273 Gene: ENSMUSG00000028898
Domain | Start | End | E-Value | Type |
RRM
|
4 |
78 |
1.73e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137520
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an allele lacking exons 7 and 8 exhibit prenatal lethality. Mice homozygous for a conditional allele activated in neurons exhibit impaired performance on a rotarod. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
Jmy |
A |
T |
13: 93,596,294 (GRCm39) |
V445E |
probably damaging |
Het |
Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
Myt1 |
T |
C |
2: 181,463,790 (GRCm39) |
L1032P |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
Nfrkb |
A |
T |
9: 31,325,475 (GRCm39) |
M973L |
probably benign |
Het |
Or5aq6 |
C |
T |
2: 86,923,318 (GRCm39) |
C141Y |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,994,248 (GRCm39) |
V636D |
possibly damaging |
Het |
|
Other mutations in Trnau1ap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Trnau1ap
|
APN |
4 |
132,055,817 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01970:Trnau1ap
|
APN |
4 |
132,041,298 (GRCm39) |
splice site |
probably benign |
|
IGL02336:Trnau1ap
|
APN |
4 |
132,041,331 (GRCm39) |
nonsense |
probably null |
|
IGL03248:Trnau1ap
|
APN |
4 |
132,049,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Trnau1ap
|
UTSW |
4 |
132,039,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0079:Trnau1ap
|
UTSW |
4 |
132,041,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Trnau1ap
|
UTSW |
4 |
132,049,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R2849:Trnau1ap
|
UTSW |
4 |
132,049,045 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4683:Trnau1ap
|
UTSW |
4 |
132,049,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5056:Trnau1ap
|
UTSW |
4 |
132,054,482 (GRCm39) |
intron |
probably benign |
|
R5819:Trnau1ap
|
UTSW |
4 |
132,052,521 (GRCm39) |
splice site |
probably benign |
|
R6803:Trnau1ap
|
UTSW |
4 |
132,049,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R9069:Trnau1ap
|
UTSW |
4 |
132,056,662 (GRCm39) |
critical splice donor site |
probably null |
|
R9183:Trnau1ap
|
UTSW |
4 |
132,052,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R9314:Trnau1ap
|
UTSW |
4 |
132,056,697 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2014-05-07 |