Incidental Mutation 'R5351:Srrt'
ID |
423795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
MMRRC Submission |
042930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5351 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 137296546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 239
(*239W)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000198526]
[ENSMUST00000199243]
[ENSMUST00000197484]
[ENSMUST00000196208]
|
AlphaFold |
Q99MR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024099
|
SMART Domains |
Protein: ENSMUSP00000024099 Gene: ENSMUSG00000023328
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
14 |
563 |
2e-186 |
PFAM |
Pfam:Abhydrolase_3
|
146 |
276 |
7.5e-9 |
PFAM |
Pfam:AChE_tetra
|
578 |
614 |
3.2e-26 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040873
AA Change: T467A
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043123 Gene: ENSMUSG00000037364 AA Change: T467A
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: ENSMUST00000052825
|
SMART Domains |
Protein: ENSMUSP00000056156 Gene: ENSMUSG00000051502
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C78
|
27 |
212 |
5.4e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085934
|
SMART Domains |
Protein: ENSMUSP00000083097 Gene: ENSMUSG00000023328
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
15 |
563 |
3e-178 |
PFAM |
Pfam:Abhydrolase_3
|
146 |
260 |
1.4e-7 |
PFAM |
Pfam:AChE_tetra
|
578 |
613 |
3.2e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184134
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184197
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196109
AA Change: T109A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142351 Gene: ENSMUSG00000037364 AA Change: T109A
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: ENSMUST00000196576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197466
AA Change: T467A
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142564 Gene: ENSMUSG00000037364 AA Change: T467A
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 null
Transcript: ENSMUST00000198526
AA Change: *468W
|
SMART Domains |
Protein: ENSMUSP00000142435 Gene: ENSMUSG00000037364 AA Change: *468W
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 |
possibly damaging
Transcript: ENSMUST00000199243
AA Change: T467A
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143232 Gene: ENSMUSG00000037364 AA Change: T467A
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 null
Transcript: ENSMUST00000199605
AA Change: *239W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196394
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196960
|
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 |
probably benign
Transcript: ENSMUST00000196208
|
SMART Domains |
Protein: ENSMUSP00000142427 Gene: ENSMUSG00000023328
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
14 |
359 |
6.5e-134 |
PFAM |
Pfam:Abhydrolase_3
|
146 |
284 |
4.1e-7 |
PFAM |
Pfam:COesterase
|
355 |
475 |
1.5e-25 |
PFAM |
Pfam:AChE_tetra
|
490 |
526 |
2.2e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
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 |
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 |
R6470:Srrt
|
UTSW |
5 |
137,300,918 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGAGTTGGCCCTACAGAGAC -3'
(R):5'- GCTTTGTAAACGATACCCAGGC -3'
Sequencing Primer
(F):5'- TGGTCACAGTCCCAGAACTTC -3'
(R):5'- ATACCCAGGCTTTATGCGAG -3'
|
Posted On |
2016-08-04 |