Incidental Mutation 'R0682:U2surp'
ID |
61022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
U2surp
|
Ensembl Gene |
ENSMUSG00000032407 |
Gene Name |
U2 snRNP-associated SURP domain containing |
Synonyms |
2610101N10Rik |
MMRRC Submission |
038867-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R0682 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 95366496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 470
(V470I)
|
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
AA Change: V427I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000077482 Gene: ENSMUSG00000032407 AA Change: V427I
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: V471I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000078602 Gene: ENSMUSG00000032407 AA Change: V471I
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 |
noncoding transcript
Transcript: ENSMUST00000186139
|
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: V470I
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0844 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
probably 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 |
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 |
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'- GAACATTCGAAAATCTTCTGTCCGCC -3'
(R):5'- ACGTTCAGATTAGCTTGTCAGACAGTC -3'
Sequencing Primer
(F):5'- CGCCATTTCGTTGGAGAATC -3'
(R):5'- TAGAAGATGAGAGGACCCTTTCTCC -3'
|
Posted On |
2013-07-30 |