Incidental Mutation 'IGL00337:Srrt'
ID |
5521 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00337
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 137294240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
probably benign
Transcript: ENSMUST00000040873
|
SMART Domains |
Protein: ENSMUSP00000043123 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
|
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: ENSMUST00000150983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184134
|
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 |
probably benign
Transcript: ENSMUST00000199243
|
SMART Domains |
Protein: ENSMUSP00000143232 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 |
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: ENSMUST00000197466
|
SMART Domains |
Protein: ENSMUSP00000142564 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 |
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: 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: ENSMUST00000184197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196394
|
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: ENSMUST00000199473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199605
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
Coding Region Coverage |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
Other mutations in Srrt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2012-04-20 |