Incidental Mutation 'R7547:U2surp'
ID |
584265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
U2surp
|
Ensembl Gene |
ENSMUSG00000032407 |
Gene Name |
U2 snRNP-associated SURP domain containing |
Synonyms |
2610101N10Rik |
MMRRC Submission |
045618-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R7547 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95361402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 620
(E620G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
AlphaFold |
Q6NV83 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078374
AA Change: E576G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000077482 Gene: ENSMUSG00000032407 AA Change: E576G
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
148 |
186 |
N/A |
INTRINSIC |
RRM
|
231 |
307 |
1.85e-18 |
SMART |
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
SWAP
|
384 |
438 |
1.07e-20 |
SMART |
RPR
|
493 |
632 |
1.42e-41 |
SMART |
internal_repeat_1
|
648 |
665 |
6.09e-7 |
PROSPERO |
internal_repeat_1
|
678 |
698 |
6.09e-7 |
PROSPERO |
coiled coil region
|
742 |
769 |
N/A |
INTRINSIC |
cwf21
|
792 |
843 |
6.31e-17 |
SMART |
low complexity region
|
881 |
933 |
N/A |
INTRINSIC |
low complexity region
|
939 |
985 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079659
AA Change: E620G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078602 Gene: ENSMUSG00000032407 AA Change: E620G
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
192 |
230 |
N/A |
INTRINSIC |
RRM
|
275 |
351 |
1.85e-18 |
SMART |
low complexity region
|
357 |
367 |
N/A |
INTRINSIC |
SWAP
|
428 |
482 |
1.07e-20 |
SMART |
RPR
|
537 |
676 |
1.42e-41 |
SMART |
internal_repeat_1
|
692 |
709 |
1.14e-6 |
PROSPERO |
internal_repeat_1
|
722 |
742 |
1.14e-6 |
PROSPERO |
coiled coil region
|
786 |
813 |
N/A |
INTRINSIC |
cwf21
|
836 |
887 |
6.31e-17 |
SMART |
low complexity region
|
925 |
977 |
N/A |
INTRINSIC |
low complexity region
|
983 |
1029 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191213
|
SMART Domains |
Protein: ENSMUSP00000140614 Gene: ENSMUSG00000032407
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
192 |
230 |
N/A |
INTRINSIC |
RRM
|
275 |
351 |
7.8e-21 |
SMART |
low complexity region
|
357 |
367 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217176
AA Change: E619G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,109,269 (GRCm39) |
D146E |
probably benign |
Het |
Adgrl1 |
C |
T |
8: 84,665,513 (GRCm39) |
A1400V |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,738,852 (GRCm39) |
V2344A |
unknown |
Het |
Anxa2r2 |
A |
T |
13: 120,488,457 (GRCm39) |
F31I |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,967,521 (GRCm39) |
D182V |
probably damaging |
Het |
Asb4 |
C |
T |
6: 5,398,350 (GRCm39) |
P105L |
probably damaging |
Het |
Ate1 |
C |
A |
7: 130,106,539 (GRCm39) |
R274I |
probably benign |
Het |
Ccdc43 |
A |
G |
11: 102,582,948 (GRCm39) |
V92A |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,654,290 (GRCm39) |
N548I |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,313,503 (GRCm39) |
|
probably null |
Het |
Ctnnal1 |
G |
A |
4: 56,817,032 (GRCm39) |
R597C |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,263,434 (GRCm39) |
K3234R |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,702,996 (GRCm39) |
K151N |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,253,573 (GRCm39) |
I1826K |
possibly damaging |
Het |
Dnttip1 |
A |
G |
2: 164,609,799 (GRCm39) |
K289E |
probably benign |
Het |
Eppk1 |
G |
T |
15: 75,991,740 (GRCm39) |
Q1714K |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,816,056 (GRCm39) |
D674G |
possibly damaging |
Het |
Galnt7 |
A |
T |
8: 58,036,996 (GRCm39) |
V131D |
possibly damaging |
Het |
Glg1 |
C |
T |
8: 111,914,393 (GRCm39) |
V464M |
possibly damaging |
Het |
Hlcs |
G |
T |
16: 94,032,031 (GRCm39) |
S444* |
probably null |
Het |
Larp1 |
G |
T |
11: 57,943,405 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,335,410 (GRCm39) |
Y4386C |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,213,138 (GRCm39) |
|
probably null |
Het |
Neb |
C |
T |
2: 52,172,637 (GRCm39) |
V1557I |
probably benign |
Het |
Nid2 |
A |
G |
14: 19,847,345 (GRCm39) |
T953A |
probably benign |
Het |
Or5b105 |
T |
C |
19: 13,080,407 (GRCm39) |
D87G |
not run |
Het |
Pax3 |
G |
A |
1: 78,099,231 (GRCm39) |
Q319* |
probably null |
Het |
Ppp2r1b |
T |
A |
9: 50,773,762 (GRCm39) |
S212R |
probably benign |
Het |
Prss29 |
T |
C |
17: 25,539,896 (GRCm39) |
L98P |
probably damaging |
Het |
Ptch2 |
T |
G |
4: 116,967,161 (GRCm39) |
L646R |
probably damaging |
Het |
Rasa2 |
T |
A |
9: 96,493,474 (GRCm39) |
E70V |
probably damaging |
Het |
Serf2 |
A |
G |
2: 121,281,256 (GRCm39) |
N65S |
possibly damaging |
Het |
Serpinb6b |
G |
A |
13: 33,158,907 (GRCm39) |
G155D |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,077,875 (GRCm39) |
I165T |
possibly damaging |
Het |
Skint5 |
A |
T |
4: 113,483,785 (GRCm39) |
V949E |
unknown |
Het |
Slc11a2 |
A |
G |
15: 100,295,651 (GRCm39) |
I490T |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,803,436 (GRCm39) |
D1126G |
probably benign |
Het |
Tent4a |
G |
T |
13: 69,681,823 (GRCm39) |
P160Q |
probably benign |
Het |
Tln1 |
G |
T |
4: 43,545,206 (GRCm39) |
A1003E |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,072 (GRCm39) |
V64A |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,449,906 (GRCm39) |
N179S |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,784,108 (GRCm39) |
T3889A |
|
Het |
Vps35 |
C |
T |
8: 85,989,999 (GRCm39) |
V670M |
probably damaging |
Het |
Zfp626 |
T |
C |
7: 27,517,828 (GRCm39) |
S270P |
possibly damaging |
Het |
Zfp955a |
C |
T |
17: 33,461,797 (GRCm39) |
V112M |
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,246,806 (GRCm39) |
S165P |
possibly damaging |
Het |
|
Other mutations in U2surp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:U2surp
|
APN |
9 |
95,343,577 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01122:U2surp
|
APN |
9 |
95,372,287 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01985:U2surp
|
APN |
9 |
95,372,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01992:U2surp
|
APN |
9 |
95,364,234 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01992:U2surp
|
APN |
9 |
95,346,472 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02300:U2surp
|
APN |
9 |
95,370,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02491:U2surp
|
APN |
9 |
95,372,273 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02503:U2surp
|
APN |
9 |
95,384,622 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02615:U2surp
|
APN |
9 |
95,375,284 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02628:U2surp
|
APN |
9 |
95,354,143 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02682:U2surp
|
APN |
9 |
95,363,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02721:U2surp
|
APN |
9 |
95,356,488 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03200:U2surp
|
APN |
9 |
95,373,444 (GRCm39) |
nonsense |
probably null |
|
coup
|
UTSW |
9 |
95,359,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R0095:U2surp
|
UTSW |
9 |
95,382,737 (GRCm39) |
splice site |
probably null |
|
R0373:U2surp
|
UTSW |
9 |
95,366,496 (GRCm39) |
missense |
probably benign |
0.08 |
R0376:U2surp
|
UTSW |
9 |
95,366,496 (GRCm39) |
missense |
probably benign |
0.08 |
R0377:U2surp
|
UTSW |
9 |
95,366,496 (GRCm39) |
missense |
probably benign |
0.08 |
R0416:U2surp
|
UTSW |
9 |
95,367,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R0682:U2surp
|
UTSW |
9 |
95,366,496 (GRCm39) |
missense |
probably benign |
0.08 |
R0948:U2surp
|
UTSW |
9 |
95,343,550 (GRCm39) |
utr 3 prime |
probably benign |
|
R1420:U2surp
|
UTSW |
9 |
95,344,856 (GRCm39) |
missense |
probably benign |
0.33 |
R1474:U2surp
|
UTSW |
9 |
95,375,251 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1555:U2surp
|
UTSW |
9 |
95,348,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:U2surp
|
UTSW |
9 |
95,363,793 (GRCm39) |
splice site |
probably benign |
|
R1638:U2surp
|
UTSW |
9 |
95,366,280 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1693:U2surp
|
UTSW |
9 |
95,393,913 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R1851:U2surp
|
UTSW |
9 |
95,364,150 (GRCm39) |
nonsense |
probably null |
|
R2271:U2surp
|
UTSW |
9 |
95,373,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2679:U2surp
|
UTSW |
9 |
95,358,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2851:U2surp
|
UTSW |
9 |
95,382,735 (GRCm39) |
splice site |
probably null |
|
R3769:U2surp
|
UTSW |
9 |
95,375,750 (GRCm39) |
splice site |
probably benign |
|
R4596:U2surp
|
UTSW |
9 |
95,367,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:U2surp
|
UTSW |
9 |
95,375,198 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4763:U2surp
|
UTSW |
9 |
95,393,844 (GRCm39) |
intron |
probably benign |
|
R4995:U2surp
|
UTSW |
9 |
95,344,847 (GRCm39) |
utr 3 prime |
probably benign |
|
R5805:U2surp
|
UTSW |
9 |
95,361,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6006:U2surp
|
UTSW |
9 |
95,361,360 (GRCm39) |
missense |
probably damaging |
0.96 |
R6249:U2surp
|
UTSW |
9 |
95,382,869 (GRCm39) |
missense |
probably benign |
0.07 |
R6260:U2surp
|
UTSW |
9 |
95,358,210 (GRCm39) |
missense |
probably damaging |
0.99 |
R6378:U2surp
|
UTSW |
9 |
95,373,474 (GRCm39) |
missense |
probably benign |
0.41 |
R6487:U2surp
|
UTSW |
9 |
95,359,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6585:U2surp
|
UTSW |
9 |
95,354,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6721:U2surp
|
UTSW |
9 |
95,373,157 (GRCm39) |
missense |
probably damaging |
0.99 |
R6760:U2surp
|
UTSW |
9 |
95,375,764 (GRCm39) |
missense |
probably benign |
0.27 |
R7065:U2surp
|
UTSW |
9 |
95,367,712 (GRCm39) |
missense |
probably benign |
0.01 |
R7167:U2surp
|
UTSW |
9 |
95,363,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R7219:U2surp
|
UTSW |
9 |
95,372,215 (GRCm39) |
nonsense |
probably null |
|
R7232:U2surp
|
UTSW |
9 |
95,375,770 (GRCm39) |
missense |
probably benign |
0.03 |
R7460:U2surp
|
UTSW |
9 |
95,344,877 (GRCm39) |
missense |
unknown |
|
R7609:U2surp
|
UTSW |
9 |
95,367,732 (GRCm39) |
splice site |
probably null |
|
R7761:U2surp
|
UTSW |
9 |
95,370,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R8520:U2surp
|
UTSW |
9 |
95,384,607 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9059:U2surp
|
UTSW |
9 |
95,363,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9065:U2surp
|
UTSW |
9 |
95,359,563 (GRCm39) |
missense |
probably benign |
|
R9124:U2surp
|
UTSW |
9 |
95,346,468 (GRCm39) |
nonsense |
probably null |
|
R9266:U2surp
|
UTSW |
9 |
95,366,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:U2surp
|
UTSW |
9 |
95,356,535 (GRCm39) |
missense |
|
|
X0018:U2surp
|
UTSW |
9 |
95,367,650 (GRCm39) |
missense |
probably damaging |
0.98 |
X0018:U2surp
|
UTSW |
9 |
95,357,341 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAATGCCCTGAAGATACTTTC -3'
(R):5'- GACACAAAGGGCCAGATTGC -3'
Sequencing Primer
(F):5'- ATGAGGACCTGAGTTCAGCTCTC -3'
(R):5'- GGGCCAGATTGCTAAATTCATCC -3'
|
Posted On |
2019-10-17 |