Incidental Mutation 'R7677:Srrt'
| ID |
592500 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137298410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 254
(V254D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000197484]
[ENSMUST00000198526]
[ENSMUST00000199243]
|
| AlphaFold |
Q99MR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040873
AA Change: V254D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: V254D
| 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: 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 damaging
Transcript: ENSMUST00000197466
AA Change: V254D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: V254D
| 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: ENSMUST00000197484
|
| SMART Domains |
Protein: ENSMUSP00000142660
Gene: ENSMUSG00000037364
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
41 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198526
AA Change: V254D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: V254D
| 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 damaging
Transcript: ENSMUST00000199243
AA Change: V254D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: V254D
| 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: ENSMUST00000199365
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,349 (GRCm39) |
R2699* |
probably null |
Het |
| Adra2a |
G |
A |
19: 54,035,375 (GRCm39) |
V244M |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,845 (GRCm39) |
S12G |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,751,698 (GRCm39) |
M383K |
probably damaging |
Het |
| Armc12 |
T |
C |
17: 28,756,865 (GRCm39) |
V210A |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,950,500 (GRCm39) |
H2131L |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,223,035 (GRCm39) |
L219P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,915 (GRCm39) |
M507L |
probably benign |
Het |
| Atr |
T |
A |
9: 95,767,515 (GRCm39) |
L1191I |
probably damaging |
Het |
| B4galt5 |
T |
C |
2: 167,146,998 (GRCm39) |
T279A |
probably damaging |
Het |
| Bglap2 |
T |
C |
3: 88,285,280 (GRCm39) |
E62G |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,127,926 (GRCm39) |
S1157P |
unknown |
Het |
| Ccdc17 |
T |
C |
4: 116,454,962 (GRCm39) |
|
probably null |
Het |
| Cdc6 |
T |
A |
11: 98,810,191 (GRCm39) |
L500* |
probably null |
Het |
| Dst |
G |
T |
1: 34,208,403 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
C |
T |
3: 84,811,373 (GRCm39) |
T166I |
|
Het |
| Fer1l6 |
T |
C |
15: 58,474,139 (GRCm39) |
V955A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,941 (GRCm38) |
E82G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,610,971 (GRCm39) |
D486G |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,804,854 (GRCm39) |
T476A |
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,266,264 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,421,547 (GRCm39) |
|
probably benign |
Het |
| Hhipl2 |
T |
A |
1: 183,204,951 (GRCm39) |
M88K |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,459,171 (GRCm39) |
C605R |
probably benign |
Het |
| Hoxd13 |
T |
C |
2: 74,498,909 (GRCm39) |
S86P |
probably benign |
Het |
| Hspa12a |
G |
T |
19: 58,849,317 (GRCm39) |
A2E |
probably benign |
Het |
| Il1rl1 |
A |
C |
1: 40,485,864 (GRCm39) |
*338C |
probably null |
Het |
| Lrrc37a |
G |
T |
11: 103,390,464 (GRCm39) |
P1654T |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,959,376 (GRCm39) |
D704V |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,231,130 (GRCm39) |
K120* |
probably null |
Het |
| Nat3 |
A |
C |
8: 68,000,139 (GRCm39) |
Y6S |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,774,823 (GRCm39) |
Q180* |
probably null |
Het |
| Nynrin |
T |
A |
14: 56,107,693 (GRCm39) |
D933E |
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,011,957 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,386 (GRCm39) |
Y119* |
probably null |
Het |
| Or2l5 |
G |
A |
16: 19,333,678 (GRCm39) |
A236V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,614 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,324 (GRCm39) |
N65K |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,500,983 (GRCm39) |
T30I |
not run |
Het |
| Pbx1 |
A |
T |
1: 168,030,995 (GRCm39) |
F208I |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,605 (GRCm39) |
V232A |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,558,593 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,195,983 (GRCm39) |
L223Q |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,261,632 (GRCm39) |
R977C |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,699,788 (GRCm39) |
D2049E |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,120,837 (GRCm38) |
D16G |
probably benign |
Het |
| Pth2r |
C |
A |
1: 65,427,605 (GRCm39) |
T426N |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,705,928 (GRCm39) |
L1865M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,245 (GRCm39) |
Q1702L |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,176 (GRCm39) |
Y135C |
probably benign |
Het |
| Sdha |
G |
A |
13: 74,481,172 (GRCm39) |
R345* |
probably null |
Het |
| Selp |
A |
T |
1: 163,961,525 (GRCm39) |
S413C |
probably damaging |
Het |
| Sirt2 |
G |
A |
7: 28,484,835 (GRCm39) |
C221Y |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,067,140 (GRCm39) |
S100T |
probably benign |
Het |
| Socs7 |
C |
A |
11: 97,280,468 (GRCm39) |
Q566K |
probably benign |
Het |
| Spdye4c |
G |
A |
2: 128,436,056 (GRCm39) |
V151M |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,158,980 (GRCm39) |
D2952G |
unknown |
Het |
| Srd5a2 |
A |
T |
17: 74,354,749 (GRCm39) |
L25Q |
probably damaging |
Het |
| Tap2 |
T |
C |
17: 34,424,494 (GRCm39) |
F76L |
probably benign |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,815 (GRCm39) |
*371R |
probably null |
Het |
| Tm9sf3 |
A |
T |
19: 41,209,743 (GRCm39) |
F441I |
probably damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,414 (GRCm39) |
R314Q |
probably damaging |
Het |
| Trim28 |
G |
T |
7: 12,762,040 (GRCm39) |
R312L |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,562,829 (GRCm39) |
T393A |
probably benign |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube2v2 |
T |
C |
16: 15,398,964 (GRCm39) |
T42A |
probably benign |
Het |
| Vmn2r-ps158 |
A |
C |
7: 42,674,163 (GRCm39) |
H414P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,604,456 (GRCm39) |
S1342R |
possibly damaging |
Het |
| Zg16 |
A |
T |
7: 126,649,763 (GRCm39) |
V66E |
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 |
|
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 |
|
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'- AATGTCAGTCTTTCTTGCTGGC -3'
(R):5'- AGGTGTTCCTGTCCCTCATG -3'
Sequencing Primer
(F):5'- GCTGGCTGCATTAGTCACC -3'
(R):5'- CTGTCCCTCATGGAGAGTGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation