Incidental Mutation 'R6875:Srrt'
| ID |
536366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrt
|
| Ensembl Gene |
ENSMUSG00000037364 |
| Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
| Synonyms |
Asr2, Ars2, 2810019G02Rik |
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6875 (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 G
at 137296935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 100
(F100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000040873]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000196109]
[ENSMUST00000196208]
[ENSMUST00000197466]
[ENSMUST00000197484]
[ENSMUST00000198526]
[ENSMUST00000199243]
|
| 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 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 |
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 |
probably benign
Transcript: ENSMUST00000196109
AA Change: F100S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: F100S
| 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 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: 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 |
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
|
| 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: 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: ENSMUST00000199365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223263
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,154 (GRCm39) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,751,628 (GRCm39) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,003,702 (GRCm39) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,745,155 (GRCm39) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,815,677 (GRCm39) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,100 (GRCm39) |
L614P |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,393,991 (GRCm39) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,552,744 (GRCm39) |
D596E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,444,175 (GRCm39) |
S407P |
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,871,786 (GRCm39) |
T86A |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,762,001 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,969,760 (GRCm39) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,055,779 (GRCm39) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 72,167,069 (GRCm39) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,050,179 (GRCm39) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,748 (GRCm39) |
Y834F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,169 (GRCm39) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,093,102 (GRCm39) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,976,291 (GRCm39) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,155,909 (GRCm39) |
D586G |
probably damaging |
Het |
| Il36g |
G |
C |
2: 24,078,633 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,762,108 (GRCm39) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 23,422,377 (GRCm39) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,563,559 (GRCm39) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,516,090 (GRCm39) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,906,343 (GRCm39) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,620,011 (GRCm39) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,950,931 (GRCm39) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,615,671 (GRCm39) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,661,662 (GRCm39) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,290,477 (GRCm39) |
Y365C |
probably benign |
Het |
| Or4f56 |
A |
T |
2: 111,703,306 (GRCm39) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,671,647 (GRCm39) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,362,264 (GRCm39) |
S373P |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,320 (GRCm39) |
N380I |
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,877 (GRCm39) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,921,019 (GRCm39) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,366,883 (GRCm39) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,297 (GRCm39) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,315,710 (GRCm39) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,004,624 (GRCm39) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,886,192 (GRCm39) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,660,501 (GRCm39) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,633,822 (GRCm39) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,695 (GRCm39) |
K792R |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,527,917 (GRCm39) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,082,404 (GRCm39) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,669,462 (GRCm39) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,439,063 (GRCm39) |
H126Q |
probably benign |
Het |
| Tulp2 |
C |
A |
7: 45,168,038 (GRCm39) |
T150K |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,248,863 (GRCm39) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,554,961 (GRCm39) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 72,642,851 (GRCm39) |
N93K |
possibly 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 |
|
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'- CGCATAAAGCCTGGGTATCG -3'
(R):5'- GGCTAGTTTTAAATGCTGCTTACAC -3'
Sequencing Primer
(F):5'- CGCATAAAGCCTGGGTATCGTTTAC -3'
(R):5'- AAAGTTGTACTGGTTACTTCTTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation