Incidental Mutation 'IGL02562:Snrpa'
ID |
298700 |
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 # |
IGL02562
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26886431-26895696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26891123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 116
(K116M)
|
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 damaging
Transcript: ENSMUST00000080356
AA Change: K116M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079228 Gene: ENSMUSG00000061479 AA Change: K116M
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 damaging
Transcript: ENSMUST00000122202
AA Change: K116M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113678 Gene: ENSMUSG00000061479 AA Change: K116M
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 damaging
Transcript: ENSMUST00000126211
AA Change: K116M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115335 Gene: ENSMUSG00000061479 AA Change: K116M
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 damaging
Transcript: ENSMUST00000163311
AA Change: K116M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131897 Gene: ENSMUSG00000061479 AA Change: K116M
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,144,949 (GRCm39) |
C33R |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,324,126 (GRCm39) |
N562S |
probably benign |
Het |
Akap14 |
G |
A |
X: 36,427,441 (GRCm39) |
T98M |
possibly damaging |
Het |
Atp7b |
T |
G |
8: 22,518,101 (GRCm39) |
T234P |
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,715,057 (GRCm39) |
Q65L |
probably benign |
Het |
Bclaf3 |
T |
C |
X: 158,349,434 (GRCm39) |
S600P |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col4a5 |
A |
G |
X: 140,439,671 (GRCm39) |
|
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,335,097 (GRCm39) |
D120G |
probably benign |
Het |
Gm4953 |
A |
T |
1: 158,996,077 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
G |
T |
5: 124,129,586 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
G |
13: 114,973,106 (GRCm39) |
|
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,619 (GRCm39) |
T85A |
probably benign |
Het |
Loxl1 |
A |
G |
9: 58,196,199 (GRCm39) |
S607P |
probably damaging |
Het |
Marchf2 |
G |
A |
17: 33,915,048 (GRCm39) |
T182I |
probably damaging |
Het |
Mbd1 |
T |
C |
18: 74,409,993 (GRCm39) |
S386P |
probably benign |
Het |
Meis2 |
C |
A |
2: 115,879,627 (GRCm39) |
G231V |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,496,053 (GRCm39) |
K774E |
probably benign |
Het |
Or10a2 |
C |
A |
7: 106,673,769 (GRCm39) |
H245N |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,237 (GRCm39) |
N109S |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,333,714 (GRCm39) |
I224N |
possibly damaging |
Het |
Or51ag1 |
G |
T |
7: 103,155,423 (GRCm39) |
C243* |
probably null |
Het |
Or8u9 |
T |
G |
2: 86,001,384 (GRCm39) |
Y259S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,778,405 (GRCm39) |
D1813E |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,467,038 (GRCm39) |
Y52H |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,223,502 (GRCm39) |
T816A |
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Pwwp3a |
A |
G |
10: 80,074,729 (GRCm39) |
D438G |
probably damaging |
Het |
S2bpcox16 |
T |
C |
12: 81,557,616 (GRCm39) |
D63G |
probably damaging |
Het |
Slc7a2 |
T |
A |
8: 41,368,057 (GRCm39) |
M607K |
probably damaging |
Het |
Spon1 |
A |
G |
7: 113,635,996 (GRCm39) |
S737G |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Sspo |
A |
G |
6: 48,467,056 (GRCm39) |
|
probably null |
Het |
Tubb4a |
C |
A |
17: 57,388,163 (GRCm39) |
E288* |
probably null |
Het |
Vmn2r87 |
A |
T |
10: 130,314,513 (GRCm39) |
C358S |
probably 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 |
IGL03077:Snrpa
|
APN |
7 |
26,891,186 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |