Incidental Mutation 'IGL02227:Srrt'
| ID |
285586 |
| 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 # |
IGL02227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137294536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 790
(T790M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000196109]
[ENSMUST00000199243]
[ENSMUST00000197466]
[ENSMUST00000196208]
[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 |
probably damaging
Transcript: ENSMUST00000040873
AA Change: T790M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: T790M
| 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 |
noncoding transcript
Transcript: ENSMUST00000184197
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196109
AA Change: T432M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: T432M
| 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 damaging
Transcript: ENSMUST00000199243
AA Change: T790M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: T790M
| 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
AA Change: T786M
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: T786M
| 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: ENSMUST00000197409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196576
|
| 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 |
probably benign
Transcript: ENSMUST00000199605
|
| 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 |
unknown
Transcript: ENSMUST00000199756
AA Change: T208M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,987,402 (GRCm39) |
E662G |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,881,196 (GRCm39) |
S262P |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,591,497 (GRCm39) |
V263A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,152 (GRCm39) |
L454P |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,164 (GRCm39) |
F280I |
possibly damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,695,261 (GRCm39) |
H485N |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,732 (GRCm39) |
S91P |
possibly damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,458,237 (GRCm39) |
V590A |
probably benign |
Het |
| Brf1 |
C |
A |
12: 112,925,394 (GRCm39) |
R590S |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,296,788 (GRCm39) |
D197V |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,632,217 (GRCm39) |
E257G |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,989 (GRCm39) |
D564G |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,643 (GRCm39) |
V434I |
probably benign |
Het |
| Cfap410 |
A |
G |
10: 77,818,784 (GRCm39) |
N152D |
possibly damaging |
Het |
| Cltc |
C |
T |
11: 86,588,166 (GRCm39) |
V1610M |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,198 (GRCm39) |
F473L |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,939,254 (GRCm39) |
K165E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,634 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,821,587 (GRCm39) |
S251G |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,098,035 (GRCm39) |
V282E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,476,696 (GRCm39) |
L1914P |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,349 (GRCm39) |
I611T |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 93,969,946 (GRCm39) |
M1198I |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 166,275,931 (GRCm39) |
I379F |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,852,126 (GRCm39) |
D123E |
probably benign |
Het |
| Hc |
T |
G |
2: 34,899,923 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,089 (GRCm39) |
Y781C |
probably damaging |
Het |
| Hfe |
T |
C |
13: 23,890,926 (GRCm39) |
E71G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,116,919 (GRCm39) |
|
probably benign |
Het |
| Ifnk |
G |
A |
4: 35,152,642 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
A |
15: 44,977,670 (GRCm39) |
G123C |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,633 (GRCm39) |
I32N |
possibly damaging |
Het |
| Lpl |
T |
C |
8: 69,348,452 (GRCm39) |
V227A |
probably damaging |
Het |
| Lurap1l |
A |
T |
4: 80,872,094 (GRCm39) |
S196C |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,084,528 (GRCm39) |
L91P |
possibly damaging |
Het |
| Nelfe |
C |
A |
17: 35,073,330 (GRCm39) |
D288E |
probably benign |
Het |
| Or5p1 |
T |
A |
7: 107,916,408 (GRCm39) |
C102* |
probably null |
Het |
| Otof |
T |
C |
5: 30,528,128 (GRCm39) |
E1905G |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,323 (GRCm39) |
I148T |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,913,425 (GRCm39) |
V145F |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,056,474 (GRCm39) |
S4510P |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,434,397 (GRCm39) |
E641G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,299,779 (GRCm39) |
L96S |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,105,185 (GRCm39) |
T434M |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,568,245 (GRCm39) |
N184K |
possibly damaging |
Het |
| Prkar1a |
G |
A |
11: 109,551,001 (GRCm39) |
|
probably benign |
Het |
| Psmb1 |
A |
T |
17: 15,710,546 (GRCm39) |
M1K |
probably null |
Het |
| Pwwp2a |
T |
C |
11: 43,596,448 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,719,527 (GRCm39) |
R516W |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,487,172 (GRCm39) |
D601G |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,565,356 (GRCm39) |
V467A |
possibly damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,457 (GRCm39) |
T121P |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,939,401 (GRCm39) |
C197* |
probably null |
Het |
| Ssc5d |
T |
C |
7: 4,936,453 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
G |
A |
6: 132,928,357 (GRCm39) |
W98* |
probably null |
Het |
| Thoc5 |
A |
C |
11: 4,876,217 (GRCm39) |
M609L |
probably benign |
Het |
| Tnip1 |
G |
A |
11: 54,827,297 (GRCm39) |
T155M |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,618,672 (GRCm39) |
V14458A |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,766,809 (GRCm39) |
E61G |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,307 (GRCm39) |
K151E |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,378 (GRCm39) |
M260V |
probably benign |
Het |
| Vwa7 |
G |
T |
17: 35,239,060 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp366 |
G |
T |
13: 99,370,696 (GRCm39) |
R472L |
possibly damaging |
Het |
| Zfp811 |
A |
T |
17: 33,017,616 (GRCm39) |
Y141* |
probably null |
Het |
| Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
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 |
|
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 |
2015-04-16 |
Incidental Mutation