Incidental Mutation 'IGL00944:Trnau1ap'
| ID |
27279 |
| 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 # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132039074-132056849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132055817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 30
(V30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000030730]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000105960]
[ENSMUST00000105962]
[ENSMUST00000125513]
[ENSMUST00000127402]
[ENSMUST00000137520]
[ENSMUST00000147652]
|
| AlphaFold |
Q80VC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030726
|
| SMART Domains |
Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
47 |
95 |
7.9e-12 |
PFAM |
|
Pfam:RCC1
|
98 |
147 |
7.5e-17 |
PFAM |
|
Pfam:RCC1_2
|
134 |
165 |
1.3e-11 |
PFAM |
|
Pfam:RCC1
|
150 |
200 |
9.9e-10 |
PFAM |
|
Pfam:RCC1_2
|
187 |
216 |
3.2e-7 |
PFAM |
|
Pfam:RCC1
|
203 |
268 |
4.2e-14 |
PFAM |
|
Pfam:RCC1
|
271 |
322 |
1.1e-11 |
PFAM |
|
Pfam:RCC1
|
325 |
373 |
3.4e-10 |
PFAM |
|
Pfam:RCC1
|
376 |
427 |
3.4e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030730
AA Change: V30L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: V30L
| 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: ENSMUST00000084250
|
| SMART Domains |
Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
26 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
34 |
82 |
4.1e-10 |
PFAM |
|
Pfam:RCC1
|
85 |
134 |
1.4e-13 |
PFAM |
|
Pfam:RCC1_2
|
121 |
151 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
137 |
187 |
1.7e-7 |
PFAM |
|
Pfam:RCC1_2
|
174 |
203 |
3e-5 |
PFAM |
|
Pfam:RCC1
|
190 |
255 |
9.6e-11 |
PFAM |
|
Pfam:RCC1
|
258 |
309 |
1.9e-9 |
PFAM |
|
Pfam:RCC1
|
312 |
360 |
5.7e-9 |
PFAM |
|
Pfam:RCC1
|
363 |
414 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105951
|
| SMART Domains |
Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
26 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
34 |
82 |
4.1e-10 |
PFAM |
|
Pfam:RCC1
|
85 |
134 |
1.4e-13 |
PFAM |
|
Pfam:RCC1_2
|
121 |
151 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
137 |
187 |
1.7e-7 |
PFAM |
|
Pfam:RCC1_2
|
174 |
203 |
3e-5 |
PFAM |
|
Pfam:RCC1
|
190 |
255 |
9.6e-11 |
PFAM |
|
Pfam:RCC1
|
258 |
309 |
1.9e-9 |
PFAM |
|
Pfam:RCC1
|
312 |
360 |
5.7e-9 |
PFAM |
|
Pfam:RCC1
|
363 |
414 |
3.9e-12 |
PFAM |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000105962
AA Change: V30L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
AA Change: V30L
| 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 |
possibly damaging
Transcript: ENSMUST00000127402
AA Change: V30L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120657
Gene: ENSMUSG00000028898
AA Change: V30L
| 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 |
possibly damaging
Transcript: ENSMUST00000137520
AA Change: V30L
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147652
AA Change: V30L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898
AA Change: V30L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
78 |
1.73e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146166
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
| Other mutations in Trnau1ap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01926:Trnau1ap
|
APN |
4 |
132,046,873 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
2013-04-17 |
Incidental Mutation