Incidental Mutation 'R6497:Srrt'
ID |
523058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
MMRRC Submission |
044629-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6497 (G1)
|
Quality Score |
156.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 137295768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 193
(P193H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000196109]
[ENSMUST00000199243]
[ENSMUST00000197466]
[ENSMUST00000198526]
[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: P551H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043123 Gene: ENSMUSG00000037364 AA Change: P551H
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 |
probably damaging
Transcript: ENSMUST00000196109
AA Change: P193H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142351 Gene: ENSMUSG00000037364 AA Change: P193H
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 |
possibly damaging
Transcript: ENSMUST00000199243
AA Change: P551H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143232 Gene: ENSMUSG00000037364 AA Change: P551H
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 |
possibly damaging
Transcript: ENSMUST00000197466
AA Change: P551H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142564 Gene: ENSMUSG00000037364 AA Change: P551H
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 |
noncoding transcript
Transcript: ENSMUST00000196960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196394
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198526
|
SMART Domains |
Protein: ENSMUSP00000142435 Gene: ENSMUSG00000037364
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: ENSMUST00000197376
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
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 |
noncoding transcript
Transcript: ENSMUST00000196576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197409
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
Meta Mutation Damage Score |
0.0925 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
probably damaging |
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 |
R6470:Srrt
|
UTSW |
5 |
137,300,918 (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'- ATGCTCCAGATGGTCGGAAC -3'
(R):5'- GATCCCTGGGTCCTATCCATAAC -3'
Sequencing Primer
(F):5'- TCGGAACTGGCACCTTGATCAG -3'
(R):5'- GGGTCCTATCCATAACCTCCTTTG -3'
|
Posted On |
2018-06-06 |