Incidental Mutation 'R8795:Srrt'
| ID |
671184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrt
|
| Ensembl Gene |
ENSMUSG00000037364 |
| Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
| Synonyms |
Asr2, Ars2, 2810019G02Rik |
| MMRRC Submission |
068636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137298238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 311
(D311E)
|
| 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: D311E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: D311E
| 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: D311E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: D311E
| 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 benign
Transcript: ENSMUST00000198526
AA Change: D311E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: D311E
| 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: D311E
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: D311E
| 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: ENSMUST00000199365
AA Change: D11E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199605
AA Change: D83E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (72/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,818,598 (GRCm39) |
M128L |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 87,258,213 (GRCm39) |
S768P |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,854,484 (GRCm39) |
M118L |
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,216,416 (GRCm39) |
N533S |
probably benign |
Het |
| Agk |
T |
G |
6: 40,363,854 (GRCm39) |
I278R |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,749,584 (GRCm39) |
W466R |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,612,538 (GRCm39) |
V387I |
probably damaging |
Het |
| Cand2 |
T |
G |
6: 115,763,889 (GRCm39) |
D270E |
probably benign |
Het |
| Ccdc107 |
C |
T |
4: 43,495,514 (GRCm39) |
T139M |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,910,584 (GRCm39) |
E177G |
probably benign |
Het |
| Clint1 |
C |
A |
11: 45,775,178 (GRCm39) |
Q56K |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,233,812 (GRCm39) |
R249G |
unknown |
Het |
| Cpne5 |
C |
T |
17: 29,423,662 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,859,730 (GRCm39) |
D54G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,137,087 (GRCm39) |
E1468K |
probably benign |
Het |
| E130308A19Rik |
A |
T |
4: 59,737,676 (GRCm39) |
N429I |
possibly damaging |
Het |
| Endov |
G |
T |
11: 119,390,380 (GRCm39) |
G86C |
possibly damaging |
Het |
| Ercc5 |
A |
T |
1: 44,203,089 (GRCm39) |
Y242F |
possibly damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,161,756 (GRCm39) |
V360E |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,752,454 (GRCm39) |
I2153T |
probably benign |
Het |
| Gje1 |
T |
C |
10: 14,593,870 (GRCm39) |
N8S |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,553,739 (GRCm39) |
H1580R |
probably damaging |
Het |
| Grin1 |
C |
G |
2: 25,187,468 (GRCm39) |
S614T |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ifitm2 |
A |
T |
7: 140,535,661 (GRCm39) |
H56Q |
probably damaging |
Het |
| Ifrd1 |
G |
A |
12: 40,263,076 (GRCm39) |
T218I |
possibly damaging |
Het |
| Igkv1-99 |
G |
T |
6: 68,519,370 (GRCm39) |
G109V |
|
Het |
| Impg2 |
A |
G |
16: 56,080,611 (GRCm39) |
E805G |
probably benign |
Het |
| Itgb6 |
T |
A |
2: 60,483,629 (GRCm39) |
N260Y |
probably damaging |
Het |
| Maneal |
G |
T |
4: 124,750,483 (GRCm39) |
Y424* |
probably null |
Het |
| Map4k2 |
T |
G |
19: 6,401,640 (GRCm39) |
C677W |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,638,034 (GRCm39) |
H59R |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,536,245 (GRCm39) |
D571E |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,067,493 (GRCm39) |
F622S |
probably damaging |
Het |
| Mrpl44 |
A |
T |
1: 79,753,974 (GRCm39) |
Q42L |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,174,203 (GRCm39) |
|
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,569,586 (GRCm39) |
V13A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,316,442 (GRCm39) |
L499Q |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,448,450 (GRCm39) |
C874R |
probably damaging |
Het |
| Or1i2 |
T |
C |
10: 78,447,698 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4c99 |
T |
G |
2: 88,329,855 (GRCm39) |
V142G |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,881 (GRCm39) |
L39* |
probably null |
Het |
| Or6c6 |
T |
C |
10: 129,187,194 (GRCm39) |
I254T |
probably damaging |
Het |
| Pld3 |
T |
A |
7: 27,235,286 (GRCm39) |
D314V |
possibly damaging |
Het |
| Pou6f1 |
A |
C |
15: 100,485,686 (GRCm39) |
C114W |
possibly damaging |
Het |
| Prl2c1 |
A |
C |
13: 28,033,389 (GRCm39) |
Q2P |
possibly damaging |
Het |
| Prl2c1 |
G |
T |
13: 28,033,390 (GRCm39) |
Q2H |
probably benign |
Het |
| Pzp |
C |
A |
6: 128,471,701 (GRCm39) |
K908N |
probably damaging |
Het |
| Rab6b |
G |
A |
9: 103,039,825 (GRCm39) |
G125D |
probably damaging |
Het |
| Rhbdd2 |
C |
T |
5: 135,663,985 (GRCm39) |
T69I |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,374,221 (GRCm39) |
Y1013* |
probably null |
Het |
| Slc13a4 |
T |
A |
6: 35,260,230 (GRCm39) |
T217S |
probably benign |
Het |
| Slc66a3 |
A |
G |
12: 17,043,481 (GRCm39) |
W150R |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,049,033 (GRCm39) |
L253S |
probably benign |
Het |
| Snrpa |
C |
A |
7: 26,891,034 (GRCm39) |
V146L |
possibly damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,792,992 (GRCm39) |
V380A |
probably benign |
Het |
| Stk32b |
A |
T |
5: 37,806,483 (GRCm39) |
F20L |
probably damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,224,014 (GRCm39) |
T136A |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,094,396 (GRCm39) |
V244I |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,446,070 (GRCm39) |
|
probably null |
Het |
| Tmem260 |
A |
G |
14: 48,689,370 (GRCm39) |
H63R |
probably damaging |
Het |
| Ugt1a6b |
A |
G |
1: 88,034,794 (GRCm39) |
E44G |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,074,513 (GRCm39) |
I1363F |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 122,988,953 (GRCm39) |
N255Y |
probably benign |
Het |
| Usp35 |
A |
G |
7: 96,961,167 (GRCm39) |
V753A |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,961,270 (GRCm39) |
N719D |
probably benign |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,988 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,064,883 (GRCm39) |
M1K |
probably null |
Het |
| Zan |
C |
T |
5: 137,396,522 (GRCm39) |
E4345K |
unknown |
Het |
| Zc3h7a |
A |
T |
16: 10,965,147 (GRCm39) |
M662K |
possibly damaging |
Het |
| Zfp512 |
G |
A |
5: 31,634,134 (GRCm39) |
V438M |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 738,945 (GRCm39) |
D87G |
unknown |
Het |
| Zmym4 |
A |
T |
4: 126,799,819 (GRCm39) |
V653E |
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 |
|
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 |
|
|
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'- CCGACATCTTGGTCTCATGC -3'
(R):5'- CAGAGCCTTTGGGTTGTGAC -3'
Sequencing Primer
(F):5'- GACATCTTGGTCTCATGCAAAAC -3'
(R):5'- ATTGGTAGCTGTCATTAAGATGGAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation