Incidental Mutation 'R1420:U2surp'
ID |
160056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
U2surp
|
Ensembl Gene |
ENSMUSG00000032407 |
Gene Name |
U2 snRNP-associated SURP domain containing |
Synonyms |
2610101N10Rik |
MMRRC Submission |
039476-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R1420 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95344856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 907
(S907P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
AlphaFold |
Q6NV83 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078374
AA Change: S907P
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000077482 Gene: ENSMUSG00000032407 AA Change: S907P
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 |
unknown
Transcript: ENSMUST00000079659
AA Change: S951P
|
SMART Domains |
Protein: ENSMUSP00000078602 Gene: ENSMUSG00000032407 AA Change: S951P
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 |
unknown
Transcript: ENSMUST00000217176
AA Change: S950P
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
A |
G |
10: 83,331,799 (GRCm39) |
Y669H |
probably damaging |
Het |
Amotl2 |
A |
T |
9: 102,601,982 (GRCm39) |
M409L |
possibly damaging |
Het |
Ankrd35 |
A |
G |
3: 96,592,054 (GRCm39) |
E780G |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,837,234 (GRCm39) |
Y866C |
probably damaging |
Het |
Cul4b |
G |
C |
X: 37,653,918 (GRCm39) |
|
probably null |
Het |
Daw1 |
A |
T |
1: 83,137,548 (GRCm39) |
Y10F |
possibly damaging |
Het |
Dgki |
A |
T |
6: 37,027,204 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
T |
7: 119,551,202 (GRCm39) |
V3039E |
probably damaging |
Het |
Ercc4 |
C |
T |
16: 12,948,073 (GRCm39) |
T340I |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,399,894 (GRCm39) |
N403S |
possibly damaging |
Het |
Fbh1 |
A |
G |
2: 11,772,493 (GRCm39) |
F63L |
probably benign |
Het |
Foxm1 |
G |
A |
6: 128,349,884 (GRCm39) |
R395H |
possibly damaging |
Het |
Gtpbp4 |
C |
T |
13: 9,023,298 (GRCm39) |
A589T |
probably benign |
Het |
Ifna7 |
C |
A |
4: 88,734,906 (GRCm39) |
H148N |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,463,181 (GRCm39) |
Y104C |
probably damaging |
Het |
Il31ra |
A |
T |
13: 112,668,286 (GRCm39) |
W347R |
probably damaging |
Het |
Ints7 |
T |
G |
1: 191,345,169 (GRCm39) |
F620V |
possibly damaging |
Het |
Iqcd |
T |
C |
5: 120,738,860 (GRCm39) |
L226P |
probably damaging |
Het |
Jak3 |
G |
T |
8: 72,134,182 (GRCm39) |
R428L |
possibly damaging |
Het |
Kif28 |
C |
A |
1: 179,529,962 (GRCm39) |
C733F |
probably damaging |
Het |
Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,552,904 (GRCm39) |
E4G |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
Lrriq3 |
A |
G |
3: 154,893,349 (GRCm39) |
E350G |
probably benign |
Het |
Nav3 |
G |
A |
10: 109,659,115 (GRCm39) |
A834V |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,263,073 (GRCm39) |
Q454* |
probably null |
Het |
Nfatc2 |
C |
A |
2: 168,346,585 (GRCm39) |
M836I |
probably benign |
Het |
Nphp3 |
G |
T |
9: 103,913,092 (GRCm39) |
|
probably null |
Het |
Olfml2b |
C |
T |
1: 170,496,596 (GRCm39) |
T409M |
probably benign |
Het |
Oprk1 |
A |
G |
1: 5,672,544 (GRCm39) |
K227R |
probably damaging |
Het |
Or8g35 |
A |
T |
9: 39,381,289 (GRCm39) |
H244Q |
probably damaging |
Het |
Pate1 |
A |
T |
9: 35,596,505 (GRCm39) |
W87R |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,602,760 (GRCm39) |
Y341H |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
Pglyrp4 |
T |
C |
3: 90,636,021 (GRCm39) |
V82A |
probably damaging |
Het |
Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
Prdm9 |
C |
A |
17: 15,764,638 (GRCm39) |
C714F |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,712,402 (GRCm39) |
V80A |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,052,067 (GRCm39) |
L568P |
probably damaging |
Het |
Rasgrp4 |
C |
A |
7: 28,839,770 (GRCm39) |
Q161K |
probably damaging |
Het |
Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,345,772 (GRCm39) |
V413A |
probably damaging |
Het |
Slc7a15 |
T |
C |
12: 8,584,442 (GRCm39) |
T363A |
probably benign |
Het |
Sufu |
T |
C |
19: 46,385,623 (GRCm39) |
S28P |
probably benign |
Het |
Tex19.1 |
T |
C |
11: 121,037,872 (GRCm39) |
S77P |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,165,440 (GRCm39) |
Y91* |
probably null |
Het |
Ttbk2 |
C |
G |
2: 120,576,393 (GRCm39) |
R792S |
probably benign |
Het |
Tyw1 |
T |
C |
5: 130,303,586 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vps50 |
T |
A |
6: 3,588,007 (GRCm39) |
L660* |
probably null |
Het |
Wdr55 |
A |
G |
18: 36,893,392 (GRCm39) |
E18G |
probably benign |
Het |
Wipi1 |
A |
G |
11: 109,469,198 (GRCm39) |
V331A |
probably benign |
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 |
|
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'- CTTGAATCATGACAAACTGAGGGAGGAA -3'
(R):5'- AGTGGAGCTGGGAGACACTAGTAGTA -3'
Sequencing Primer
(F):5'- aaaaaaaaaaaaaaaaaGTGCCAAGC -3'
(R):5'- AGTAGTAAAATTAAACTGGGATGCC -3'
|
Posted On |
2014-03-14 |