Incidental Mutation 'R1770:Srrt'
| ID |
196482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrt
|
| Ensembl Gene |
ENSMUSG00000037364 |
| Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
| Synonyms |
Asr2, Ars2, 2810019G02Rik |
| MMRRC Submission |
039801-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1770 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 137298122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000196109]
[ENSMUST00000199243]
[ENSMUST00000198526]
[ENSMUST00000197466]
[ENSMUST00000197484]
|
| AlphaFold |
Q99MR6 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000184197
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000196394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000200643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
| 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: ENSMUST00000223263
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
92% (69/75) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,661,874 (GRCm39) |
T84A |
probably benign |
Het |
| Adgra1 |
T |
A |
7: 139,453,947 (GRCm39) |
Y161* |
probably null |
Het |
| Aldoart1 |
G |
T |
4: 72,770,173 (GRCm39) |
H212N |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,536,861 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,391,235 (GRCm39) |
V2036E |
possibly damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,528 (GRCm39) |
T131A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,945,293 (GRCm39) |
R1354H |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,108 (GRCm39) |
V71A |
probably benign |
Het |
| C4b |
T |
A |
17: 34,955,901 (GRCm39) |
N678I |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,357,657 (GRCm39) |
L64P |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,474,487 (GRCm39) |
S786P |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,751,042 (GRCm39) |
E296G |
possibly damaging |
Het |
| Chml |
G |
A |
1: 175,515,444 (GRCm39) |
T159I |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,246,166 (GRCm39) |
E328K |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,983 (GRCm39) |
I35V |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,642 (GRCm39) |
K275R |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,522,615 (GRCm39) |
E364G |
probably benign |
Het |
| Dcaf13 |
A |
T |
15: 38,993,633 (GRCm39) |
N242I |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,579,470 (GRCm39) |
V701A |
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,468,021 (GRCm39) |
T230S |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,456,200 (GRCm39) |
Y797N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,064,417 (GRCm39) |
I4791K |
probably damaging |
Het |
| Gm3852 |
T |
C |
1: 46,051,048 (GRCm39) |
I45V |
possibly damaging |
Het |
| Gng4 |
A |
G |
13: 13,999,851 (GRCm39) |
D40G |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,213,952 (GRCm39) |
D209G |
probably benign |
Het |
| Kif6 |
C |
A |
17: 50,210,677 (GRCm39) |
Q791K |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,082 (GRCm39) |
V569M |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lrrc8c |
A |
G |
5: 105,754,603 (GRCm39) |
Y126C |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,838 (GRCm39) |
V62A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,001 (GRCm39) |
R1907G |
unknown |
Het |
| Mertk |
A |
G |
2: 128,592,094 (GRCm39) |
I273V |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,223 (GRCm39) |
Y225H |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,229,619 (GRCm39) |
V684A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,287,651 (GRCm39) |
W97* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,986,469 (GRCm39) |
I516V |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,761,813 (GRCm39) |
|
probably benign |
Het |
| Ndufs5 |
T |
C |
4: 123,606,661 (GRCm39) |
Y92C |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,050,979 (GRCm39) |
V1035I |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,009,132 (GRCm39) |
R308G |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,643 (GRCm39) |
I87V |
probably benign |
Het |
| Pcdhb16 |
G |
T |
18: 37,612,233 (GRCm39) |
G398W |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,543,326 (GRCm39) |
S237T |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,634 (GRCm39) |
F769I |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,631,950 (GRCm39) |
V261A |
probably damaging |
Het |
| Prss52 |
C |
T |
14: 64,351,082 (GRCm39) |
A289V |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,942,723 (GRCm39) |
K407E |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,462,580 (GRCm39) |
D1455G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,301 (GRCm39) |
N1054S |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,684,567 (GRCm39) |
S1965P |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,654 (GRCm39) |
Y142C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,572,464 (GRCm39) |
E935G |
possibly damaging |
Het |
| Tas2r115 |
G |
A |
6: 132,714,934 (GRCm39) |
R6C |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,681 (GRCm39) |
|
probably benign |
Het |
| Trim29 |
A |
T |
9: 43,243,673 (GRCm39) |
Q564L |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,868 (GRCm39) |
D231G |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,487,787 (GRCm39) |
K676E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
| Ugt1a2 |
A |
G |
1: 88,129,160 (GRCm39) |
I268V |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,667,852 (GRCm39) |
N330D |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,351,040 (GRCm39) |
H2822Y |
probably damaging |
Het |
| Vmn1r176 |
G |
A |
7: 23,534,946 (GRCm39) |
A69V |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,560 (GRCm39) |
Y613C |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,686,857 (GRCm39) |
W296R |
probably damaging |
Het |
| Zfp11 |
G |
A |
5: 129,734,822 (GRCm39) |
T213I |
possibly damaging |
Het |
| Zfp142 |
A |
T |
1: 74,618,790 (GRCm39) |
F193I |
probably damaging |
Het |
| Zfp764 |
G |
A |
7: 127,004,739 (GRCm39) |
Q131* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGTGACAAGTACCGGCCTCC -3'
(R):5'- AAGGTGGCACAGAGAACGATCTCC -3'
Sequencing Primer
(F):5'- tcggactcagactcggac -3'
(R):5'- TCCGAATTTTGGAGCAGGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation