Incidental Mutation 'R2851:U2surp'
| ID |
252225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
040444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R2851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95382735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078374
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
| 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 null
Transcript: ENSMUST00000079659
|
| SMART Domains |
Protein: ENSMUSP00000078602
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 |
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 null
Transcript: ENSMUST00000185515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190019
|
| 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 null
Transcript: ENSMUST00000217176
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Ceacam11 |
T |
C |
7: 17,712,451 (GRCm39) |
I300T |
probably benign |
Het |
| Cmtm5 |
A |
G |
14: 55,175,512 (GRCm39) |
|
probably benign |
Het |
| Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,585,614 (GRCm39) |
N1254K |
probably damaging |
Het |
| Crispld2 |
T |
A |
8: 120,740,828 (GRCm39) |
L107Q |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,649 (GRCm39) |
N502S |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,149,183 (GRCm39) |
D231E |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,423,915 (GRCm39) |
T1677A |
possibly damaging |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,509 (GRCm39) |
D250G |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,678,778 (GRCm39) |
N200S |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,045 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,703,159 (GRCm39) |
S92A |
probably damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Il19 |
A |
G |
1: 130,863,694 (GRCm39) |
V99A |
possibly damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Itgad |
T |
A |
7: 127,803,732 (GRCm39) |
V42E |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,798,119 (GRCm39) |
S79C |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mthfsd |
G |
A |
8: 121,832,512 (GRCm39) |
T60I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,295,504 (GRCm39) |
Y255C |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,800,600 (GRCm39) |
F58L |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
A |
11: 58,920,844 (GRCm39) |
|
probably null |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,610,853 (GRCm39) |
E377G |
possibly damaging |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Ppa2 |
A |
T |
3: 133,026,764 (GRCm39) |
|
probably null |
Het |
| Proser1 |
G |
A |
3: 53,387,966 (GRCm39) |
A885T |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,758,776 (GRCm39) |
I665T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
G |
A |
13: 51,808,671 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,921,557 (GRCm39) |
T445A |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,184,798 (GRCm39) |
T705M |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Timm22 |
G |
A |
11: 76,304,925 (GRCm39) |
A188T |
probably damaging |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
C |
A |
15: 100,180,296 (GRCm39) |
T112K |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,230,036 (GRCm39) |
E25D |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,960,862 (GRCm39) |
N22K |
possibly damaging |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
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 |
|
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 |
|
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'- TGTCTTAACTGCCTAAATGTTTCTT -3'
(R):5'- TGTGGATGTCATATTTGAAACCATTT -3'
Sequencing Primer
(F):5'- AGGCTGATTTCCAAGCTCAG -3'
(R):5'- AGATGGATGCATCTGGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation