Incidental Mutation 'R1561:Srrt'
| ID |
170599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrt
|
| Ensembl Gene |
ENSMUSG00000037364 |
| Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
| Synonyms |
Asr2, Ars2, 2810019G02Rik |
| MMRRC Submission |
039600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137298281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 297
(E297V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000198526]
[ENSMUST00000199243]
[ENSMUST00000197484]
|
| AlphaFold |
Q99MR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040873
AA Change: E297V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: E297V
| 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: ENSMUST00000197466
AA Change: E297V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: E297V
| 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
AA Change: E297V
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: E297V
| 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: ENSMUST00000199243
AA Change: E297V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: E297V
| 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 |
unknown
Transcript: ENSMUST00000199605
AA Change: E69V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
| 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: ENSMUST00000199365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,431 (GRCm39) |
N69D |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
| Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
| Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
| Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
| Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
| Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,076,593 (GRCm39) |
Y191C |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,606 (GRCm39) |
E481G |
possibly damaging |
Het |
| Slc35a5 |
A |
C |
16: 44,971,884 (GRCm39) |
S127A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 20,974,680 (GRCm39) |
R883* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
| Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCCTCATCGAAGCTGTCATC -3'
(R):5'- TGTTCCTGTCCCTCATGGAGAGTG -3'
Sequencing Primer
(F):5'- CTTGCTCTGTGGAAGCAAC -3'
(R):5'- GCCATTGTCAAGATGCTAGATGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation