Incidental Mutation 'IGL03077:Snrpa'
| ID |
417719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snrpa
|
| Ensembl Gene |
ENSMUSG00000061479 |
| Gene Name |
small nuclear ribonucleoprotein polypeptide A |
| Synonyms |
Rnu1a1, C430021M15Rik, U1A, U1 snRNP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26886431-26895696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26891186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 95
(T95I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080356]
[ENSMUST00000108379]
[ENSMUST00000122202]
[ENSMUST00000126211]
[ENSMUST00000141378]
[ENSMUST00000163311]
[ENSMUST00000179391]
|
| AlphaFold |
Q62189 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080356
AA Change: T95I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: T95I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
RRM
|
214 |
283 |
6.31e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108379
|
| SMART Domains |
Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122202
AA Change: T95I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: T95I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
RRM
|
214 |
283 |
6.31e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126211
AA Change: T95I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: T95I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
215 |
247 |
3.8e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163311
AA Change: T95I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: T95I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
RRM
|
214 |
283 |
6.31e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179391
|
| SMART Domains |
Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
| Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
Het |
|
| Other mutations in Snrpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Snrpa
|
APN |
7 |
26,892,395 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01623:Snrpa
|
APN |
7 |
26,892,395 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02562:Snrpa
|
APN |
7 |
26,891,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
lowly
|
UTSW |
7 |
26,892,371 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1454:Snrpa
|
UTSW |
7 |
26,892,362 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1779:Snrpa
|
UTSW |
7 |
26,891,174 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4238:Snrpa
|
UTSW |
7 |
26,892,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4601:Snrpa
|
UTSW |
7 |
26,894,958 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R6986:Snrpa
|
UTSW |
7 |
26,892,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7114:Snrpa
|
UTSW |
7 |
26,891,174 (GRCm39) |
missense |
probably benign |
|
|
R7529:Snrpa
|
UTSW |
7 |
26,888,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7756:Snrpa
|
UTSW |
7 |
26,892,371 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7758:Snrpa
|
UTSW |
7 |
26,892,371 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8126:Snrpa
|
UTSW |
7 |
26,892,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8380:Snrpa
|
UTSW |
7 |
26,886,713 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8532:Snrpa
|
UTSW |
7 |
26,891,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8795:Snrpa
|
UTSW |
7 |
26,891,034 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9281:Snrpa
|
UTSW |
7 |
26,891,051 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation