Incidental Mutation 'R3721:Srrm2'
ID |
258933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrm2
|
Ensembl Gene |
ENSMUSG00000039218 |
Gene Name |
serine/arginine repetitive matrix 2 |
Synonyms |
5033413A03Rik, SRm300 |
MMRRC Submission |
040712-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R3721 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24009506-24043715 bp(+) (GRCm39) |
Type of Mutation |
small deletion (3 aa in frame mutation) |
DNA Base Change (assembly) |
CTCCTCTTCTTCCTCTTCTTCCTC to CTCCTCTTCTTCCTC
at 24041549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069579]
[ENSMUST00000088621]
[ENSMUST00000190686]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069579
|
SMART Domains |
Protein: ENSMUSP00000066210 Gene: ENSMUSG00000055839
Domain | Start | End | E-Value | Type |
UBQ
|
3 |
80 |
5.1e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088621
|
SMART Domains |
Protein: ENSMUSP00000085993 Gene: ENSMUSG00000039218
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
157 |
N/A |
INTRINSIC |
low complexity region
|
161 |
188 |
N/A |
INTRINSIC |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
internal_repeat_4
|
248 |
305 |
2.93e-5 |
PROSPERO |
internal_repeat_5
|
259 |
388 |
2.93e-5 |
PROSPERO |
low complexity region
|
407 |
423 |
N/A |
INTRINSIC |
CTD
|
464 |
584 |
5.25e-14 |
SMART |
low complexity region
|
652 |
682 |
N/A |
INTRINSIC |
low complexity region
|
689 |
721 |
N/A |
INTRINSIC |
internal_repeat_6
|
732 |
778 |
4.88e-5 |
PROSPERO |
low complexity region
|
779 |
795 |
N/A |
INTRINSIC |
low complexity region
|
802 |
824 |
N/A |
INTRINSIC |
low complexity region
|
839 |
853 |
N/A |
INTRINSIC |
internal_repeat_2
|
859 |
1124 |
6.34e-6 |
PROSPERO |
internal_repeat_1
|
1055 |
1183 |
3.81e-6 |
PROSPERO |
internal_repeat_4
|
1113 |
1166 |
2.93e-5 |
PROSPERO |
internal_repeat_6
|
1169 |
1213 |
4.88e-5 |
PROSPERO |
low complexity region
|
1236 |
1244 |
N/A |
INTRINSIC |
low complexity region
|
1275 |
1286 |
N/A |
INTRINSIC |
low complexity region
|
1290 |
1312 |
N/A |
INTRINSIC |
internal_repeat_2
|
1313 |
1485 |
6.34e-6 |
PROSPERO |
low complexity region
|
1493 |
1525 |
N/A |
INTRINSIC |
low complexity region
|
1545 |
1555 |
N/A |
INTRINSIC |
low complexity region
|
1559 |
1720 |
N/A |
INTRINSIC |
low complexity region
|
1734 |
1919 |
N/A |
INTRINSIC |
low complexity region
|
1926 |
1951 |
N/A |
INTRINSIC |
low complexity region
|
1966 |
1980 |
N/A |
INTRINSIC |
low complexity region
|
2079 |
2105 |
N/A |
INTRINSIC |
internal_repeat_3
|
2107 |
2118 |
1.06e-5 |
PROSPERO |
internal_repeat_3
|
2135 |
2146 |
1.06e-5 |
PROSPERO |
low complexity region
|
2153 |
2172 |
N/A |
INTRINSIC |
internal_repeat_5
|
2182 |
2320 |
2.93e-5 |
PROSPERO |
internal_repeat_1
|
2224 |
2368 |
3.81e-6 |
PROSPERO |
low complexity region
|
2390 |
2425 |
N/A |
INTRINSIC |
low complexity region
|
2518 |
2539 |
N/A |
INTRINSIC |
low complexity region
|
2541 |
2550 |
N/A |
INTRINSIC |
low complexity region
|
2552 |
2571 |
N/A |
INTRINSIC |
low complexity region
|
2594 |
2607 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175240
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190686
|
SMART Domains |
Protein: ENSMUSP00000139842 Gene: ENSMUSG00000039218
Domain | Start | End | E-Value | Type |
Pfam:cwf21
|
58 |
102 |
1.5e-13 |
PFAM |
low complexity region
|
178 |
253 |
N/A |
INTRINSIC |
low complexity region
|
257 |
284 |
N/A |
INTRINSIC |
low complexity region
|
319 |
334 |
N/A |
INTRINSIC |
internal_repeat_4
|
344 |
401 |
3.07e-5 |
PROSPERO |
internal_repeat_5
|
355 |
484 |
3.07e-5 |
PROSPERO |
low complexity region
|
503 |
519 |
N/A |
INTRINSIC |
CTD
|
560 |
680 |
5.25e-14 |
SMART |
low complexity region
|
748 |
778 |
N/A |
INTRINSIC |
low complexity region
|
785 |
817 |
N/A |
INTRINSIC |
internal_repeat_6
|
828 |
874 |
5.11e-5 |
PROSPERO |
low complexity region
|
875 |
891 |
N/A |
INTRINSIC |
low complexity region
|
898 |
920 |
N/A |
INTRINSIC |
low complexity region
|
935 |
949 |
N/A |
INTRINSIC |
internal_repeat_2
|
955 |
1220 |
6.62e-6 |
PROSPERO |
internal_repeat_1
|
1151 |
1279 |
3.97e-6 |
PROSPERO |
internal_repeat_4
|
1209 |
1262 |
3.07e-5 |
PROSPERO |
internal_repeat_6
|
1265 |
1309 |
5.11e-5 |
PROSPERO |
low complexity region
|
1332 |
1340 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1382 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1408 |
N/A |
INTRINSIC |
internal_repeat_2
|
1409 |
1581 |
6.62e-6 |
PROSPERO |
low complexity region
|
1589 |
1621 |
N/A |
INTRINSIC |
low complexity region
|
1641 |
1651 |
N/A |
INTRINSIC |
low complexity region
|
1655 |
1816 |
N/A |
INTRINSIC |
low complexity region
|
1830 |
2015 |
N/A |
INTRINSIC |
low complexity region
|
2022 |
2047 |
N/A |
INTRINSIC |
low complexity region
|
2062 |
2076 |
N/A |
INTRINSIC |
low complexity region
|
2175 |
2201 |
N/A |
INTRINSIC |
internal_repeat_3
|
2203 |
2214 |
1.1e-5 |
PROSPERO |
internal_repeat_3
|
2231 |
2242 |
1.1e-5 |
PROSPERO |
low complexity region
|
2249 |
2268 |
N/A |
INTRINSIC |
internal_repeat_5
|
2278 |
2416 |
3.07e-5 |
PROSPERO |
internal_repeat_1
|
2320 |
2464 |
3.97e-6 |
PROSPERO |
low complexity region
|
2486 |
2521 |
N/A |
INTRINSIC |
low complexity region
|
2614 |
2635 |
N/A |
INTRINSIC |
low complexity region
|
2637 |
2646 |
N/A |
INTRINSIC |
low complexity region
|
2648 |
2667 |
N/A |
INTRINSIC |
low complexity region
|
2690 |
2703 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly damaging |
Het |
|
Other mutations in Srrm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Srrm2
|
APN |
17 |
24,031,452 (GRCm39) |
missense |
probably benign |
0.23 |
IGL00484:Srrm2
|
APN |
17 |
24,037,492 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01413:Srrm2
|
APN |
17 |
24,034,999 (GRCm39) |
unclassified |
probably benign |
|
IGL02272:Srrm2
|
APN |
17 |
24,034,756 (GRCm39) |
unclassified |
probably benign |
|
IGL02279:Srrm2
|
APN |
17 |
24,034,306 (GRCm39) |
unclassified |
probably benign |
|
IGL02325:Srrm2
|
APN |
17 |
24,029,453 (GRCm39) |
unclassified |
probably benign |
|
IGL02947:Srrm2
|
APN |
17 |
24,029,720 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03002:Srrm2
|
APN |
17 |
24,034,708 (GRCm39) |
unclassified |
probably benign |
|
BB009:Srrm2
|
UTSW |
17 |
24,037,501 (GRCm39) |
missense |
probably benign |
0.23 |
BB019:Srrm2
|
UTSW |
17 |
24,037,501 (GRCm39) |
missense |
probably benign |
0.23 |
R0173:Srrm2
|
UTSW |
17 |
24,034,103 (GRCm39) |
unclassified |
probably benign |
|
R1018:Srrm2
|
UTSW |
17 |
24,041,514 (GRCm39) |
missense |
probably damaging |
0.98 |
R1109:Srrm2
|
UTSW |
17 |
24,038,591 (GRCm39) |
unclassified |
probably benign |
|
R1199:Srrm2
|
UTSW |
17 |
24,036,725 (GRCm39) |
unclassified |
probably benign |
|
R1471:Srrm2
|
UTSW |
17 |
24,039,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1478:Srrm2
|
UTSW |
17 |
24,034,876 (GRCm39) |
missense |
probably benign |
0.23 |
R1618:Srrm2
|
UTSW |
17 |
24,037,906 (GRCm39) |
unclassified |
probably benign |
|
R1678:Srrm2
|
UTSW |
17 |
24,037,960 (GRCm39) |
missense |
probably benign |
0.23 |
R1853:Srrm2
|
UTSW |
17 |
24,039,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Srrm2
|
UTSW |
17 |
24,040,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Srrm2
|
UTSW |
17 |
24,031,403 (GRCm39) |
unclassified |
probably benign |
|
R2102:Srrm2
|
UTSW |
17 |
24,036,722 (GRCm39) |
unclassified |
probably benign |
|
R2156:Srrm2
|
UTSW |
17 |
24,037,237 (GRCm39) |
missense |
probably benign |
0.23 |
R2214:Srrm2
|
UTSW |
17 |
24,035,719 (GRCm39) |
unclassified |
probably benign |
|
R2913:Srrm2
|
UTSW |
17 |
24,034,658 (GRCm39) |
unclassified |
probably benign |
|
R4411:Srrm2
|
UTSW |
17 |
24,029,442 (GRCm39) |
unclassified |
probably benign |
|
R4412:Srrm2
|
UTSW |
17 |
24,029,442 (GRCm39) |
unclassified |
probably benign |
|
R4413:Srrm2
|
UTSW |
17 |
24,029,442 (GRCm39) |
unclassified |
probably benign |
|
R4583:Srrm2
|
UTSW |
17 |
24,038,593 (GRCm39) |
unclassified |
probably benign |
|
R4682:Srrm2
|
UTSW |
17 |
24,034,666 (GRCm39) |
missense |
probably benign |
0.23 |
R4910:Srrm2
|
UTSW |
17 |
24,034,362 (GRCm39) |
unclassified |
probably benign |
|
R4943:Srrm2
|
UTSW |
17 |
24,041,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5023:Srrm2
|
UTSW |
17 |
24,038,291 (GRCm39) |
unclassified |
probably benign |
|
R5033:Srrm2
|
UTSW |
17 |
24,039,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R5163:Srrm2
|
UTSW |
17 |
24,038,524 (GRCm39) |
unclassified |
probably benign |
|
R5186:Srrm2
|
UTSW |
17 |
24,035,561 (GRCm39) |
missense |
probably benign |
0.23 |
R5197:Srrm2
|
UTSW |
17 |
24,036,358 (GRCm39) |
missense |
probably benign |
0.23 |
R5366:Srrm2
|
UTSW |
17 |
24,037,678 (GRCm39) |
missense |
probably benign |
0.23 |
R5483:Srrm2
|
UTSW |
17 |
24,040,246 (GRCm39) |
missense |
probably damaging |
0.96 |
R5551:Srrm2
|
UTSW |
17 |
24,037,450 (GRCm39) |
unclassified |
probably benign |
|
R5602:Srrm2
|
UTSW |
17 |
24,038,311 (GRCm39) |
unclassified |
probably benign |
|
R5733:Srrm2
|
UTSW |
17 |
24,040,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R5774:Srrm2
|
UTSW |
17 |
24,037,249 (GRCm39) |
unclassified |
probably benign |
|
R5909:Srrm2
|
UTSW |
17 |
24,040,291 (GRCm39) |
missense |
probably benign |
0.27 |
R5961:Srrm2
|
UTSW |
17 |
24,039,083 (GRCm39) |
unclassified |
probably benign |
|
R6122:Srrm2
|
UTSW |
17 |
24,039,330 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6906:Srrm2
|
UTSW |
17 |
24,039,337 (GRCm39) |
missense |
probably damaging |
0.97 |
R7084:Srrm2
|
UTSW |
17 |
24,039,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R7177:Srrm2
|
UTSW |
17 |
24,035,747 (GRCm39) |
missense |
unknown |
|
R7197:Srrm2
|
UTSW |
17 |
24,037,198 (GRCm39) |
missense |
unknown |
|
R7442:Srrm2
|
UTSW |
17 |
24,039,091 (GRCm39) |
missense |
unknown |
|
R7644:Srrm2
|
UTSW |
17 |
24,038,294 (GRCm39) |
missense |
unknown |
|
R7664:Srrm2
|
UTSW |
17 |
24,039,955 (GRCm39) |
missense |
probably damaging |
0.99 |
R7874:Srrm2
|
UTSW |
17 |
24,034,652 (GRCm39) |
missense |
unknown |
|
R7932:Srrm2
|
UTSW |
17 |
24,037,501 (GRCm39) |
missense |
probably benign |
0.23 |
R7950:Srrm2
|
UTSW |
17 |
24,027,084 (GRCm39) |
missense |
unknown |
|
R7958:Srrm2
|
UTSW |
17 |
24,040,286 (GRCm39) |
missense |
probably benign |
0.25 |
R8081:Srrm2
|
UTSW |
17 |
24,039,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R8118:Srrm2
|
UTSW |
17 |
24,027,057 (GRCm39) |
missense |
unknown |
|
R8174:Srrm2
|
UTSW |
17 |
24,034,297 (GRCm39) |
missense |
unknown |
|
R8191:Srrm2
|
UTSW |
17 |
24,039,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Srrm2
|
UTSW |
17 |
24,027,330 (GRCm39) |
missense |
unknown |
|
R8523:Srrm2
|
UTSW |
17 |
24,027,489 (GRCm39) |
unclassified |
probably benign |
|
R8728:Srrm2
|
UTSW |
17 |
24,038,831 (GRCm39) |
missense |
unknown |
|
R8912:Srrm2
|
UTSW |
17 |
24,038,575 (GRCm39) |
missense |
probably benign |
0.23 |
R9209:Srrm2
|
UTSW |
17 |
24,039,880 (GRCm39) |
missense |
probably benign |
0.05 |
RF006:Srrm2
|
UTSW |
17 |
24,031,562 (GRCm39) |
missense |
unknown |
|
Z1176:Srrm2
|
UTSW |
17 |
24,036,157 (GRCm39) |
missense |
unknown |
|
Z1177:Srrm2
|
UTSW |
17 |
24,036,484 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCAGGGCTTTTCTCAGG -3'
(R):5'- TTTCTGGAGAACTCACCCCAAC -3'
Sequencing Primer
(F):5'- TTCCTCCAGGCCAAGGAAG -3'
(R):5'- CAGGTTTGGGTAATGCCT -3'
|
Posted On |
2015-01-23 |