Incidental Mutation 'R2094:Srrm2'
ID |
231999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrm2
|
Ensembl Gene |
ENSMUSG00000039218 |
Gene Name |
serine/arginine repetitive matrix 2 |
Synonyms |
5033413A03Rik, SRm300 |
MMRRC Submission |
040098-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R2094 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24009506-24043715 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 24031403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088621]
[ENSMUST00000186961]
[ENSMUST00000190686]
[ENSMUST00000191385]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000088621
AA Change: S183P
|
SMART Domains |
Protein: ENSMUSP00000085993 Gene: ENSMUSG00000039218 AA Change: S183P
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 |
probably benign
Transcript: ENSMUST00000186045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186961
|
SMART Domains |
Protein: ENSMUSP00000140813 Gene: ENSMUSG00000039218
Domain | Start | End | E-Value | Type |
cwf21
|
58 |
103 |
5.6e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190293
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190686
AA Change: S279P
|
SMART Domains |
Protein: ENSMUSP00000139842 Gene: ENSMUSG00000039218 AA Change: S279P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191385
|
Meta Mutation Damage Score |
0.1120 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,154 (GRCm39) |
I169V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,856 (GRCm39) |
S144P |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,179 (GRCm39) |
M92V |
probably benign |
Het |
Atg5 |
A |
G |
10: 44,195,544 (GRCm39) |
I189M |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,684,277 (GRCm39) |
T646A |
probably damaging |
Het |
Atp1a2 |
G |
A |
1: 172,115,000 (GRCm39) |
R262W |
probably damaging |
Het |
Atp6v1g2 |
A |
G |
17: 35,455,785 (GRCm39) |
K16E |
probably damaging |
Het |
Bex6 |
G |
A |
16: 32,005,278 (GRCm39) |
E29K |
possibly damaging |
Het |
Casd1 |
A |
G |
6: 4,608,705 (GRCm39) |
Y101C |
probably damaging |
Het |
Ccdc168 |
A |
C |
1: 44,098,890 (GRCm39) |
I736S |
probably benign |
Het |
Cdx1 |
T |
C |
18: 61,168,984 (GRCm39) |
D70G |
possibly damaging |
Het |
Cebpz |
T |
C |
17: 79,242,983 (GRCm39) |
T224A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,702,164 (GRCm39) |
V319A |
possibly damaging |
Het |
Chrna2 |
C |
T |
14: 66,386,912 (GRCm39) |
R353W |
possibly damaging |
Het |
Chst5 |
A |
T |
8: 112,617,176 (GRCm39) |
V148E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,771 (GRCm39) |
W162R |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,129,992 (GRCm39) |
Q1710L |
probably damaging |
Het |
Ddb1 |
A |
C |
19: 10,590,300 (GRCm39) |
M276L |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,621,712 (GRCm39) |
R455C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,148,735 (GRCm39) |
V903A |
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,542 (GRCm39) |
V240A |
possibly damaging |
Het |
Erich1 |
T |
G |
8: 14,140,527 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
C |
19: 29,617,328 (GRCm39) |
S227A |
probably benign |
Het |
Etv1 |
C |
A |
12: 38,885,115 (GRCm39) |
P143Q |
probably null |
Het |
Gimap8 |
A |
T |
6: 48,627,502 (GRCm39) |
I159F |
probably benign |
Het |
Gpr4 |
G |
A |
7: 18,956,503 (GRCm39) |
V142M |
possibly damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,020,639 (GRCm39) |
C86Y |
probably benign |
Het |
Ifngr2 |
T |
G |
16: 91,358,667 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
T |
3: 87,710,488 (GRCm39) |
N398I |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,217,719 (GRCm39) |
E441G |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,893 (GRCm39) |
S32P |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,414,785 (GRCm39) |
K732* |
probably null |
Het |
Mprip |
T |
A |
11: 59,640,334 (GRCm39) |
|
probably benign |
Het |
Mrgprb8 |
T |
C |
7: 48,038,953 (GRCm39) |
V208A |
probably benign |
Het |
Msc |
G |
C |
1: 14,825,908 (GRCm39) |
P22R |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Or4k15b |
A |
T |
14: 50,272,171 (GRCm39) |
S230T |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,123,560 (GRCm39) |
H71Q |
probably benign |
Het |
Pkp2 |
T |
A |
16: 16,064,831 (GRCm39) |
W452R |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,072,582 (GRCm39) |
T20I |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,810,136 (GRCm39) |
S279P |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,557,831 (GRCm39) |
D1336V |
unknown |
Het |
Serpina3m |
G |
T |
12: 104,355,529 (GRCm39) |
K65N |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Slc10a1 |
A |
G |
12: 81,002,822 (GRCm39) |
V272A |
possibly damaging |
Het |
Slc25a29 |
A |
T |
12: 108,793,358 (GRCm39) |
N73K |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Stk11ip |
A |
G |
1: 75,502,165 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,697,210 (GRCm39) |
K767R |
possibly damaging |
Het |
Tmem82 |
T |
C |
4: 141,343,598 (GRCm39) |
K224R |
probably benign |
Het |
Tmprss11g |
A |
G |
5: 86,647,415 (GRCm39) |
L41S |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,248,150 (GRCm39) |
N182S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,660,432 (GRCm39) |
T7430A |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,650,390 (GRCm39) |
T259A |
probably benign |
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 |
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 |
|
R3721:Srrm2
|
UTSW |
17 |
24,041,549 (GRCm39) |
small deletion |
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'- GTCATGTGACTAAGAACGTTTGT -3'
(R):5'- TCCCTGAGTAAATAAATCCCTGCA -3'
Sequencing Primer
(F):5'- AGAACGTTTGTTTATTGTTTTGTTGG -3'
(R):5'- TCTTTGTCTTCATAAGGACTGCTAG -3'
|
Posted On |
2014-09-18 |