Incidental Mutation 'R6755:Srrt'
ID |
531002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrt
|
Ensembl Gene |
ENSMUSG00000037364 |
Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
Synonyms |
Asr2, Ars2, 2810019G02Rik |
MMRRC Submission |
044871-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6755 (G1)
|
Quality Score |
225.037 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137301192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 78
(K78R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000197484]
[ENSMUST00000199243]
[ENSMUST00000198526]
|
AlphaFold |
Q99MR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040873
AA Change: K78R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043123 Gene: ENSMUSG00000037364 AA Change: K78R
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: 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: ENSMUST00000197376
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197466
AA Change: K78R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142564 Gene: ENSMUSG00000037364 AA Change: K78R
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 |
possibly damaging
Transcript: ENSMUST00000199243
AA Change: K78R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143232 Gene: ENSMUSG00000037364 AA Change: K78R
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 damaging
Transcript: ENSMUST00000198526
AA Change: K78R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142435 Gene: ENSMUSG00000037364 AA Change: K78R
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: ENSMUST00000223263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199473
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,475,994 (GRCm39) |
T1101M |
probably benign |
Het |
4930433I11Rik |
T |
C |
7: 40,643,734 (GRCm39) |
S468P |
probably damaging |
Het |
Adam33 |
A |
G |
2: 130,895,069 (GRCm39) |
V637A |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,124,004 (GRCm39) |
V1228M |
possibly damaging |
Het |
Ahi1 |
G |
T |
10: 20,893,812 (GRCm39) |
V848F |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
B4galt6 |
T |
C |
18: 20,822,386 (GRCm39) |
E264G |
probably benign |
Het |
Bpifb4 |
A |
G |
2: 153,799,658 (GRCm39) |
T556A |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,938,082 (GRCm39) |
S64T |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,826,817 (GRCm39) |
S467P |
probably benign |
Het |
Cables1 |
G |
T |
18: 12,072,882 (GRCm39) |
S479I |
probably null |
Het |
Cbl |
T |
C |
9: 44,084,671 (GRCm39) |
I155V |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,880 (GRCm39) |
D297G |
probably damaging |
Het |
Cdk8 |
T |
A |
5: 146,205,126 (GRCm39) |
H102Q |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,079,149 (GRCm39) |
L184Q |
probably damaging |
Het |
Ctso |
T |
A |
3: 81,849,609 (GRCm39) |
H109Q |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,512,490 (GRCm39) |
E299G |
probably damaging |
Het |
Elp6 |
A |
G |
9: 110,144,893 (GRCm39) |
E150G |
possibly damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fbn2 |
A |
G |
18: 58,246,405 (GRCm39) |
L499S |
possibly damaging |
Het |
Fgf10 |
C |
A |
13: 118,925,821 (GRCm39) |
A200D |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,691,915 (GRCm39) |
E407G |
probably damaging |
Het |
Hif1an |
T |
C |
19: 44,556,891 (GRCm39) |
V232A |
probably damaging |
Het |
Ift172 |
T |
A |
5: 31,418,342 (GRCm39) |
K1214* |
probably null |
Het |
Il20ra |
T |
C |
10: 19,626,542 (GRCm39) |
Y189H |
probably benign |
Het |
Isg20l2 |
T |
A |
3: 87,838,996 (GRCm39) |
I69N |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,398,199 (GRCm39) |
D675G |
probably benign |
Het |
Klhdc7a |
T |
A |
4: 139,693,786 (GRCm39) |
D387V |
possibly damaging |
Het |
Lrrc4 |
T |
C |
6: 28,831,292 (GRCm39) |
N108D |
probably damaging |
Het |
Ltbp2 |
T |
A |
12: 84,841,847 (GRCm39) |
E944V |
probably damaging |
Het |
Magi1 |
C |
T |
6: 93,685,158 (GRCm39) |
S740N |
probably damaging |
Het |
Med26 |
A |
G |
8: 73,249,677 (GRCm39) |
I474T |
probably damaging |
Het |
Mgst1 |
T |
A |
6: 138,124,770 (GRCm39) |
M68K |
probably damaging |
Het |
Myh7 |
G |
A |
14: 55,229,770 (GRCm39) |
A91V |
possibly damaging |
Het |
Nhlrc2 |
G |
A |
19: 56,580,216 (GRCm39) |
V450I |
probably benign |
Het |
Nup160 |
T |
G |
2: 90,530,800 (GRCm39) |
F486C |
probably damaging |
Het |
Nup50l |
T |
C |
6: 96,141,953 (GRCm39) |
T364A |
probably benign |
Het |
Obscn |
A |
T |
11: 58,994,152 (GRCm39) |
Y1602N |
probably damaging |
Het |
Or52ae9 |
T |
A |
7: 103,389,707 (GRCm39) |
T247S |
probably damaging |
Het |
Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
Otogl |
A |
T |
10: 107,689,164 (GRCm39) |
Y955* |
probably null |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pianp |
T |
C |
6: 124,976,347 (GRCm39) |
V52A |
probably benign |
Het |
Plekhh2 |
T |
C |
17: 84,899,013 (GRCm39) |
Y997H |
probably damaging |
Het |
Plekhm1 |
G |
T |
11: 103,278,069 (GRCm39) |
S342R |
possibly damaging |
Het |
Poglut2 |
C |
T |
1: 44,149,894 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
A |
12: 103,551,996 (GRCm39) |
V81E |
probably damaging |
Het |
Pramel52-ps |
A |
G |
5: 94,529,268 (GRCm39) |
T13A |
probably benign |
Het |
Ptafr |
A |
G |
4: 132,306,657 (GRCm39) |
T16A |
probably benign |
Het |
Ptpn23 |
A |
T |
9: 110,218,855 (GRCm39) |
L445Q |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,374,717 (GRCm39) |
F751L |
possibly damaging |
Het |
Sap18 |
A |
C |
14: 58,039,474 (GRCm39) |
D153A |
probably damaging |
Het |
Slc38a11 |
C |
T |
2: 65,194,235 (GRCm39) |
G10D |
probably benign |
Het |
Snx32 |
T |
C |
19: 5,560,372 (GRCm39) |
N10D |
probably benign |
Het |
Sox6 |
T |
C |
7: 115,261,677 (GRCm39) |
T180A |
probably damaging |
Het |
Syce3 |
T |
C |
15: 89,281,567 (GRCm39) |
D24G |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,344,732 (GRCm39) |
I153N |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,445,991 (GRCm39) |
Q308R |
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,511,471 (GRCm39) |
|
probably null |
Het |
Tmbim6 |
T |
C |
15: 99,300,034 (GRCm39) |
V50A |
probably benign |
Het |
Tmem107 |
T |
C |
11: 68,961,837 (GRCm39) |
V22A |
probably damaging |
Het |
Ttc12 |
T |
C |
9: 49,364,646 (GRCm39) |
I377V |
probably benign |
Het |
Ufl1 |
T |
A |
4: 25,262,316 (GRCm39) |
N310I |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,175,416 (GRCm39) |
N1171K |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,574,831 (GRCm39) |
V1032E |
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 |
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'- ACACGGAGGATATGGTCTCTC -3'
(R):5'- GCTGTCAGGCTACTGTTTCC -3'
Sequencing Primer
(F):5'- GAGGATATGGTCTCTCACCCAAG -3'
(R):5'- CAGGCATTGCAGCTGATGGAC -3'
|
Posted On |
2018-08-01 |