Incidental Mutation 'R1645:Srrt'
| ID |
173807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrt
|
| Ensembl Gene |
ENSMUSG00000037364 |
| Gene Name |
serrate RNA effector molecule homolog (Arabidopsis) |
| Synonyms |
Asr2, Ars2, 2810019G02Rik |
| MMRRC Submission |
039681-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1645 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137293966-137305936 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 137300401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 59
(K59*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040873]
[ENSMUST00000196109]
[ENSMUST00000197466]
[ENSMUST00000198526]
[ENSMUST00000199243]
[ENSMUST00000197484]
|
| AlphaFold |
Q99MR6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040873
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: K192*
| 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: ENSMUST00000197144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197376
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197466
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: K192*
| 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 null
Transcript: ENSMUST00000198526
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: K192*
| 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 null
Transcript: ENSMUST00000199243
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: K192*
| 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 |
noncoding transcript
Transcript: ENSMUST00000199473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200643
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223263
AA Change: K59*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199365
|
| 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: ENSMUST00000199605
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
| Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
| Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
| Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
| Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
| Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
| Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
| Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
| Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
| Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
| Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
| Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
| Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
| Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
| Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
| Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
| Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
| Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
| Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
| Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
| Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
| Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
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 |
|
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'- TGACTGGGGATGACAATGACCCAC -3'
(R):5'- GGCAGCATCGCAGAGATTGACTTG -3'
Sequencing Primer
(F):5'- TGTGCTGTACCAAGAGGC -3'
(R):5'- ATTGACTTGGGGGTGCCAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation