Incidental Mutation 'R5602:Srrm2'
ID |
439102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrm2
|
Ensembl Gene |
ENSMUSG00000039218 |
Gene Name |
serine/arginine repetitive matrix 2 |
Synonyms |
5033413A03Rik, SRm300 |
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24009506-24043715 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 24038311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088621]
[ENSMUST00000190686]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000088621
AA Change: G1652R
|
SMART Domains |
Protein: ENSMUSP00000085993 Gene: ENSMUSG00000039218 AA Change: G1652R
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: ENSMUST00000189977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190568
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190686
AA Change: G1748R
|
SMART Domains |
Protein: ENSMUSP00000139842 Gene: ENSMUSG00000039218 AA Change: G1748R
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
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 |
|
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 |
|
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'- CTTCAGTATCTTCACCAGAGCC -3'
(R):5'- CCAAGGAGCTGGTGATGTTC -3'
Sequencing Primer
(F):5'- GAGCCAACTGAAAAGTCAAGGTCTTC -3'
(R):5'- TTGATCGAGATCGCTTCCG -3'
|
Posted On |
2016-10-26 |