Incidental Mutation 'R8925:Srrt'
ID |
680171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
MMRRC Submission |
068708-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8925 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137297070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 411
(C411Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000196109]
[ENSMUST00000196208]
[ENSMUST00000197466]
[ENSMUST00000199243]
[ENSMUST00000197484]
[ENSMUST00000198526]
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000043123 Gene: ENSMUSG00000037364 AA Change: C411Y
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 |
probably benign
Transcript: ENSMUST00000196109
AA Change: C55Y
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142351 Gene: ENSMUSG00000037364 AA Change: C55Y
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 |
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 |
possibly damaging
Transcript: ENSMUST00000197466
AA Change: C411Y
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142564 Gene: ENSMUSG00000037364 AA Change: C411Y
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: ENSMUST00000199243
AA Change: C411Y
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143232 Gene: ENSMUSG00000037364 AA Change: C411Y
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 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 |
unknown
Transcript: ENSMUST00000198526
AA Change: V413I
|
SMART Domains |
Protein: ENSMUSP00000142435 Gene: ENSMUSG00000037364 AA Change: V413I
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 |
probably benign
Transcript: ENSMUST00000199365
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
Meta Mutation Damage Score |
0.0765 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
95% (54/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,165,805 (GRCm39) |
R190* |
probably null |
Het |
Aldh7a1 |
A |
T |
18: 56,660,060 (GRCm39) |
S529T |
probably benign |
Het |
Carmil2 |
T |
G |
8: 106,415,130 (GRCm39) |
Y214* |
probably null |
Het |
Ccdc136 |
A |
G |
6: 29,406,109 (GRCm39) |
I152V |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,932,676 (GRCm39) |
D285G |
possibly damaging |
Het |
Clec4a3 |
T |
A |
6: 122,946,328 (GRCm39) |
F191I |
probably damaging |
Het |
Dlg5 |
A |
T |
14: 24,206,547 (GRCm39) |
S1222T |
|
Het |
Dnaaf9 |
T |
A |
2: 130,579,300 (GRCm39) |
R777* |
probably null |
Het |
Dnah14 |
T |
G |
1: 181,508,321 (GRCm39) |
L1833W |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,725,535 (GRCm39) |
W549R |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,510,713 (GRCm39) |
V632E |
possibly damaging |
Het |
Fam83a |
G |
A |
15: 57,873,313 (GRCm39) |
V381M |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,706,882 (GRCm39) |
|
probably null |
Het |
Fmo2 |
T |
C |
1: 162,704,398 (GRCm39) |
T503A |
probably benign |
Het |
Foxo1 |
T |
C |
3: 52,252,703 (GRCm39) |
F289L |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,456,903 (GRCm39) |
E96G |
probably damaging |
Het |
Gm18596 |
G |
A |
10: 77,578,162 (GRCm39) |
A104V |
unknown |
Het |
Gm21680 |
A |
T |
5: 26,176,347 (GRCm39) |
N83K |
probably damaging |
Het |
Gnb5 |
T |
C |
9: 75,252,236 (GRCm39) |
V393A |
possibly damaging |
Het |
Grin2b |
T |
G |
6: 135,749,339 (GRCm39) |
Q621P |
probably damaging |
Het |
Gtsf2 |
T |
C |
15: 103,352,783 (GRCm39) |
I79V |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,105,055 (GRCm39) |
I1040V |
probably benign |
Het |
Kif2b |
C |
T |
11: 91,468,023 (GRCm39) |
E87K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,604,206 (GRCm39) |
G225S |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,220,084 (GRCm39) |
C94S |
unknown |
Het |
Man2c1 |
T |
G |
9: 57,048,456 (GRCm39) |
Y872* |
probably null |
Het |
Mical3 |
T |
A |
6: 120,984,325 (GRCm39) |
M832L |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,216,334 (GRCm39) |
D41G |
probably benign |
Het |
Nedd1 |
T |
A |
10: 92,558,258 (GRCm39) |
|
probably benign |
Het |
Nefh |
TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG |
TTTGGCCTCACCTGGTGACTTG |
11: 4,890,530 (GRCm39) |
|
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Notch3 |
C |
T |
17: 32,372,792 (GRCm39) |
R593Q |
probably benign |
Het |
Nxpe3 |
T |
G |
16: 55,669,997 (GRCm39) |
E369D |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,977,695 (GRCm39) |
T1802S |
possibly damaging |
Het |
Or1e33 |
A |
T |
11: 73,738,406 (GRCm39) |
F182I |
probably benign |
Het |
Or2a7 |
T |
C |
6: 43,151,669 (GRCm39) |
F250L |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,585,107 (GRCm39) |
H171L |
probably benign |
Het |
Or9s14 |
A |
G |
1: 92,536,438 (GRCm39) |
N293S |
probably damaging |
Het |
Oscar |
A |
C |
7: 3,614,747 (GRCm39) |
V75G |
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,620,372 (GRCm39) |
A721T |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,659 (GRCm39) |
Y264C |
probably benign |
Het |
Pear1 |
G |
T |
3: 87,661,890 (GRCm39) |
A495D |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Plekhf1 |
C |
A |
7: 37,920,998 (GRCm39) |
R190L |
probably damaging |
Het |
Plppr5 |
T |
C |
3: 117,369,532 (GRCm39) |
V63A |
probably benign |
Het |
Pyroxd1 |
T |
A |
6: 142,300,437 (GRCm39) |
F189Y |
probably damaging |
Het |
Rab13 |
C |
T |
3: 90,128,120 (GRCm39) |
|
probably benign |
Het |
Rptor |
C |
T |
11: 119,782,036 (GRCm39) |
T1121I |
probably benign |
Het |
Scgb2b7 |
T |
C |
7: 31,404,602 (GRCm39) |
S33G |
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,982,126 (GRCm39) |
|
probably null |
Het |
Smc1b |
A |
T |
15: 84,991,273 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,479,477 (GRCm39) |
H530L |
possibly damaging |
Het |
Stag1 |
C |
A |
9: 100,587,298 (GRCm39) |
P7Q |
possibly damaging |
Het |
Tarm1 |
G |
A |
7: 3,537,719 (GRCm39) |
T248I |
possibly damaging |
Het |
Tektl1 |
T |
C |
10: 78,588,258 (GRCm39) |
Y184C |
probably damaging |
Het |
Trim6 |
C |
T |
7: 103,881,655 (GRCm39) |
A328V |
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,811 (GRCm39) |
I9V |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,546,500 (GRCm39) |
T791A |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,020 (GRCm39) |
T454A |
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 |
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 |
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'- AGGCCTCCTGATGCCAAAG -3'
(R):5'- CTTCGATGAGGGCAGTGTGT -3'
Sequencing Primer
(F):5'- GCCCTTGAAATGTTGGGT -3'
(R):5'- TTTGCACAGACATTCAGGCG -3'
|
Posted On |
2021-08-31 |