Incidental Mutation 'R9065:U2surp'
ID |
689208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
U2surp
|
Ensembl Gene |
ENSMUSG00000032407 |
Gene Name |
U2 snRNP-associated SURP domain containing |
Synonyms |
2610101N10Rik |
MMRRC Submission |
068890-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R9065 (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 95359563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 652
(T652A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
AlphaFold |
Q6NV83 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078374
AA Change: T608A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077482 Gene: ENSMUSG00000032407 AA Change: T608A
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 |
probably benign
Transcript: ENSMUST00000079659
AA Change: T652A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078602 Gene: ENSMUSG00000032407 AA Change: T652A
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 benign
Transcript: ENSMUST00000217176
AA Change: T651A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,323,084 (GRCm39) |
N1472S |
probably benign |
Het |
4930447C04Rik |
C |
A |
12: 72,939,604 (GRCm39) |
Q435H |
possibly damaging |
Het |
Aass |
G |
T |
6: 23,075,746 (GRCm39) |
A797E |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,608,223 (GRCm39) |
Y565N |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,269,372 (GRCm39) |
T1162A |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,887,131 (GRCm39) |
|
probably null |
Het |
Card11 |
G |
A |
5: 140,894,297 (GRCm39) |
P111S |
probably damaging |
Het |
Ccdc66 |
T |
A |
14: 27,213,850 (GRCm39) |
E328D |
probably damaging |
Het |
Cldn8 |
T |
A |
16: 88,359,902 (GRCm39) |
M8L |
probably benign |
Het |
Cnot9 |
T |
A |
1: 74,558,142 (GRCm39) |
L96* |
probably null |
Het |
Cntnap5c |
T |
A |
17: 58,445,642 (GRCm39) |
C561S |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,293,936 (GRCm39) |
D1347G |
probably benign |
Het |
Epb41 |
A |
G |
4: 131,682,888 (GRCm39) |
V390A |
|
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Eps15l1 |
G |
T |
8: 73,145,762 (GRCm39) |
S157* |
probably null |
Het |
Ercc6l2 |
A |
G |
13: 63,967,866 (GRCm39) |
I155M |
possibly damaging |
Het |
Esco1 |
G |
T |
18: 10,594,005 (GRCm39) |
T427K |
probably benign |
Het |
Fignl1 |
C |
T |
11: 11,752,692 (GRCm39) |
C121Y |
possibly damaging |
Het |
Flrt2 |
A |
G |
12: 95,746,177 (GRCm39) |
S172G |
probably damaging |
Het |
Frmd3 |
A |
T |
4: 74,063,269 (GRCm39) |
|
probably null |
Het |
Fuz |
C |
T |
7: 44,546,721 (GRCm39) |
R119W |
probably damaging |
Het |
Gtf2ird2 |
T |
G |
5: 134,225,407 (GRCm39) |
I165S |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,657,833 (GRCm39) |
I417F |
probably damaging |
Het |
Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Lpp |
T |
A |
16: 24,580,889 (GRCm39) |
W327R |
probably benign |
Het |
Msrb2 |
T |
A |
2: 19,383,041 (GRCm39) |
F56I |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,554,305 (GRCm39) |
I3996T |
unknown |
Het |
Myh4 |
C |
A |
11: 67,139,573 (GRCm39) |
A630E |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Oacyl |
T |
A |
18: 65,840,484 (GRCm39) |
F85Y |
probably damaging |
Het |
Or5ac24 |
C |
T |
16: 59,165,530 (GRCm39) |
C178Y |
probably damaging |
Het |
Or5b118 |
T |
A |
19: 13,448,670 (GRCm39) |
I70N |
probably damaging |
Het |
Or6c69b |
T |
A |
10: 129,626,727 (GRCm39) |
I244F |
possibly damaging |
Het |
Pcdha11 |
A |
C |
18: 37,139,877 (GRCm39) |
E502A |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,582 (GRCm39) |
E1509G |
possibly damaging |
Het |
Pfkm |
A |
T |
15: 98,021,680 (GRCm39) |
S314C |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,674,924 (GRCm39) |
H230R |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,251,893 (GRCm39) |
V427E |
possibly damaging |
Het |
Ppox |
TCTTATACCTGGAC |
TC |
1: 171,105,447 (GRCm39) |
|
probably benign |
Het |
Prr11 |
G |
A |
11: 86,992,249 (GRCm39) |
P209S |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,109,304 (GRCm39) |
Q1690K |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,620,465 (GRCm39) |
M564L |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,149,452 (GRCm39) |
Y820H |
probably damaging |
Het |
Six4 |
A |
C |
12: 73,159,498 (GRCm39) |
I154S |
possibly damaging |
Het |
Spata31e4 |
A |
T |
13: 50,856,276 (GRCm39) |
H638L |
probably benign |
Het |
Spock3 |
A |
G |
8: 63,801,989 (GRCm39) |
K323E |
probably damaging |
Het |
Stmn4 |
A |
T |
14: 66,596,126 (GRCm39) |
|
probably null |
Het |
Tafa2 |
A |
G |
10: 123,429,421 (GRCm39) |
K12E |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,689,518 (GRCm39) |
R227* |
probably null |
Het |
Tcp1 |
T |
A |
17: 13,139,210 (GRCm39) |
V179D |
probably damaging |
Het |
Trmt5 |
A |
T |
12: 73,328,038 (GRCm39) |
F388L |
probably damaging |
Het |
Tsc2 |
G |
T |
17: 24,822,164 (GRCm39) |
P1126H |
probably benign |
Het |
Ttn |
T |
A |
2: 76,612,720 (GRCm39) |
I17120F |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,778,270 (GRCm39) |
K1372N |
unknown |
Het |
Utp20 |
A |
G |
10: 88,592,972 (GRCm39) |
V2239A |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,935,339 (GRCm39) |
T356A |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,623,262 (GRCm39) |
H1786Q |
|
Het |
Wwox |
A |
G |
8: 115,215,682 (GRCm39) |
I152V |
probably benign |
Het |
Ythdc2 |
A |
G |
18: 44,977,418 (GRCm39) |
T405A |
probably benign |
Het |
Zfpm2 |
A |
T |
15: 40,962,712 (GRCm39) |
I257F |
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 |
|
R7547:U2surp
|
UTSW |
9 |
95,361,402 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
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'- CTGTCTTATGTAACACTGACTCTTG -3'
(R):5'- CCCAGCATTTATGTTTACTTGGAAG -3'
Sequencing Primer
(F):5'- CAGAATACCTACCTCTGTTTC -3'
(R):5'- GCATTTATGTTTACTTGGAAGATAGC -3'
|
Posted On |
2021-11-19 |