Incidental Mutation 'R4238:Snrpa'
| ID |
321210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrpa
|
| Ensembl Gene |
ENSMUSG00000061479 |
| Gene Name |
small nuclear ribonucleoprotein polypeptide A |
| Synonyms |
Rnu1a1, C430021M15Rik, U1A, U1 snRNP |
| MMRRC Submission |
041055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R4238 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26886431-26895696 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 26892293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000080356
|
| SMART Domains |
Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
| 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 null
Transcript: ENSMUST00000122202
|
| SMART Domains |
Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
| 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 null
Transcript: ENSMUST00000126211
|
| SMART Domains |
Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
| 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: ENSMUST00000155931
|
| SMART Domains |
Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163311
|
| SMART Domains |
Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
| 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 |
|
| Meta Mutation Damage Score |
0.9511 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
| Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
| Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
| Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
| Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
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 |
|
IGL02562:Snrpa
|
APN |
7 |
26,891,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGATCAGTCTGTGACCC -3'
(R):5'- TCCAGCCATTTGTCACAGTGTG -3'
Sequencing Primer
(F):5'- CCACAGCCCCCGTATAAGG -3'
(R):5'- TGTCTTCCCTAAATGCAGAGCTCAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation