Incidental Mutation 'R6470:Srrt'
ID |
516468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
MMRRC Submission |
044603-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6470 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137300918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000197484]
[ENSMUST00000199243]
[ENSMUST00000198526]
|
AlphaFold |
Q99MR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040873
AA Change: D90G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043123 Gene: ENSMUSG00000037364 AA Change: D90G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
65 |
N/A |
INTRINSIC |
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
Pfam:DUF3546
|
153 |
262 |
3.8e-44 |
PFAM |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
low complexity region
|
326 |
350 |
N/A |
INTRINSIC |
coiled coil region
|
367 |
402 |
N/A |
INTRINSIC |
Blast:RRM
|
421 |
491 |
2e-31 |
BLAST |
low complexity region
|
566 |
595 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
Pfam:ARS2
|
645 |
850 |
9.7e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196109
|
SMART Domains |
Protein: ENSMUSP00000142351 Gene: ENSMUSG00000037364
Domain | Start | End | E-Value | Type |
coiled coil region
|
11 |
46 |
N/A |
INTRINSIC |
Blast:RRM
|
65 |
133 |
2e-15 |
BLAST |
low complexity region
|
208 |
237 |
N/A |
INTRINSIC |
low complexity region
|
245 |
257 |
N/A |
INTRINSIC |
Pfam:ARS2
|
277 |
498 |
6.5e-111 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196394
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197466
AA Change: D90G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142564 Gene: ENSMUSG00000037364 AA Change: D90G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
65 |
N/A |
INTRINSIC |
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
Pfam:DUF3546
|
151 |
264 |
9.5e-48 |
PFAM |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
low complexity region
|
326 |
350 |
N/A |
INTRINSIC |
coiled coil region
|
367 |
402 |
N/A |
INTRINSIC |
Blast:RRM
|
421 |
491 |
2e-31 |
BLAST |
low complexity region
|
566 |
595 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
Pfam:ARS2
|
635 |
845 |
5.5e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197484
|
SMART Domains |
Protein: ENSMUSP00000142660 Gene: ENSMUSG00000037364
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
41 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199243
AA Change: D90G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143232 Gene: ENSMUSG00000037364 AA Change: D90G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
65 |
N/A |
INTRINSIC |
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
Pfam:DUF3546
|
151 |
264 |
9.5e-48 |
PFAM |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
low complexity region
|
326 |
350 |
N/A |
INTRINSIC |
coiled coil region
|
367 |
402 |
N/A |
INTRINSIC |
Blast:RRM
|
421 |
491 |
2e-31 |
BLAST |
low complexity region
|
566 |
595 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
Pfam:ARS2
|
635 |
849 |
9.8e-115 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198526
AA Change: D90G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142435 Gene: ENSMUSG00000037364 AA Change: D90G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
65 |
N/A |
INTRINSIC |
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
Pfam:DUF3546
|
151 |
264 |
2e-45 |
PFAM |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
low complexity region
|
322 |
347 |
N/A |
INTRINSIC |
low complexity region
|
369 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199605
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (45/45) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
Other mutations in Srrt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Srrt
|
APN |
5 |
137,294,240 (GRCm39) |
unclassified |
probably benign |
|
IGL01062:Srrt
|
APN |
5 |
137,294,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Srrt
|
APN |
5 |
137,294,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02656:Srrt
|
APN |
5 |
137,297,938 (GRCm39) |
unclassified |
probably benign |
|
IGL03105:Srrt
|
APN |
5 |
137,298,106 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03137:Srrt
|
APN |
5 |
137,294,379 (GRCm39) |
unclassified |
probably benign |
|
R0281:Srrt
|
UTSW |
5 |
137,294,389 (GRCm39) |
unclassified |
probably benign |
|
R0322:Srrt
|
UTSW |
5 |
137,294,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Srrt
|
UTSW |
5 |
137,297,938 (GRCm39) |
unclassified |
probably benign |
|
R1253:Srrt
|
UTSW |
5 |
137,298,598 (GRCm39) |
missense |
probably benign |
0.01 |
R1397:Srrt
|
UTSW |
5 |
137,298,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1520:Srrt
|
UTSW |
5 |
137,297,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R1561:Srrt
|
UTSW |
5 |
137,298,281 (GRCm39) |
missense |
probably benign |
0.24 |
R1645:Srrt
|
UTSW |
5 |
137,300,401 (GRCm39) |
nonsense |
probably null |
|
R1759:Srrt
|
UTSW |
5 |
137,301,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Srrt
|
UTSW |
5 |
137,298,122 (GRCm39) |
unclassified |
probably benign |
|
R1795:Srrt
|
UTSW |
5 |
137,301,274 (GRCm39) |
unclassified |
probably benign |
|
R1848:Srrt
|
UTSW |
5 |
137,295,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Srrt
|
UTSW |
5 |
137,300,387 (GRCm39) |
critical splice donor site |
probably null |
|
R5015:Srrt
|
UTSW |
5 |
137,294,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Srrt
|
UTSW |
5 |
137,294,803 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5163:Srrt
|
UTSW |
5 |
137,295,035 (GRCm39) |
critical splice donor site |
probably null |
|
R5316:Srrt
|
UTSW |
5 |
137,294,813 (GRCm39) |
missense |
probably benign |
0.16 |
R5343:Srrt
|
UTSW |
5 |
137,295,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R5351:Srrt
|
UTSW |
5 |
137,296,546 (GRCm39) |
makesense |
probably null |
|
R5412:Srrt
|
UTSW |
5 |
137,294,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Srrt
|
UTSW |
5 |
137,296,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R6497:Srrt
|
UTSW |
5 |
137,295,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R6755:Srrt
|
UTSW |
5 |
137,301,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R6828:Srrt
|
UTSW |
5 |
137,295,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Srrt
|
UTSW |
5 |
137,296,935 (GRCm39) |
missense |
probably benign |
0.00 |
R7586:Srrt
|
UTSW |
5 |
137,300,457 (GRCm39) |
missense |
probably damaging |
0.98 |
R7677:Srrt
|
UTSW |
5 |
137,298,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R8028:Srrt
|
UTSW |
5 |
137,300,760 (GRCm39) |
critical splice donor site |
probably benign |
|
R8413:Srrt
|
UTSW |
5 |
137,298,589 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8438:Srrt
|
UTSW |
5 |
137,301,262 (GRCm39) |
missense |
unknown |
|
R8795:Srrt
|
UTSW |
5 |
137,298,238 (GRCm39) |
missense |
probably benign |
0.17 |
R8925:Srrt
|
UTSW |
5 |
137,297,070 (GRCm39) |
missense |
probably benign |
0.26 |
R8927:Srrt
|
UTSW |
5 |
137,297,070 (GRCm39) |
missense |
probably benign |
0.26 |
R9024:Srrt
|
UTSW |
5 |
137,301,291 (GRCm39) |
missense |
unknown |
|
R9632:Srrt
|
UTSW |
5 |
137,296,689 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9667:Srrt
|
UTSW |
5 |
137,295,732 (GRCm39) |
missense |
probably damaging |
0.96 |
R9793:Srrt
|
UTSW |
5 |
137,294,835 (GRCm39) |
missense |
probably benign |
0.37 |
RF018:Srrt
|
UTSW |
5 |
137,298,262 (GRCm39) |
missense |
probably benign |
0.23 |
Z1176:Srrt
|
UTSW |
5 |
137,296,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCTAGCCTGTCCCAAGATC -3'
(R):5'- GGTGAGGTGGCATCACTTTC -3'
Sequencing Primer
(F):5'- TGTCCCAAGATCCAACCATAGTC -3'
(R):5'- TGCTCCTGCTGAAAGCTG -3'
|
Posted On |
2018-05-21 |