Incidental Mutation 'R7167:U2surp'
ID |
557994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
U2surp
|
Ensembl Gene |
ENSMUSG00000032407 |
Gene Name |
U2 snRNP-associated SURP domain containing |
Synonyms |
2610101N10Rik |
MMRRC Submission |
045228-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R7167 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95363726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 611
(N611K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
AlphaFold |
Q6NV83 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078374
AA Change: N567K
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077482 Gene: ENSMUSG00000032407 AA Change: N567K
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 damaging
Transcript: ENSMUST00000079659
AA Change: N611K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078602 Gene: ENSMUSG00000032407 AA Change: N611K
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: N610K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.4119 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
94% (65/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,624,930 (GRCm39) |
V436A |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,224,251 (GRCm39) |
T111A |
possibly damaging |
Het |
Acsbg2 |
T |
A |
17: 57,164,000 (GRCm39) |
D203V |
probably benign |
Het |
Alpk2 |
G |
T |
18: 65,440,049 (GRCm39) |
T448K |
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,551,179 (GRCm39) |
N780S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,098,394 (GRCm39) |
N252S |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,568,841 (GRCm39) |
L163Q |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,803,545 (GRCm39) |
R100G |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,898,337 (GRCm39) |
I79T |
unknown |
Het |
Csmd1 |
A |
G |
8: 15,976,524 (GRCm39) |
V2898A |
probably benign |
Het |
Cux1 |
G |
A |
5: 136,338,895 (GRCm39) |
|
probably null |
Het |
Cyp2u1 |
A |
G |
3: 131,096,773 (GRCm39) |
S2P |
probably benign |
Het |
Daam1 |
C |
A |
12: 72,035,678 (GRCm39) |
H958N |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,542,935 (GRCm39) |
V2412I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,108,133 (GRCm39) |
R2G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,827 (GRCm39) |
T1629A |
possibly damaging |
Het |
Ftl1 |
T |
A |
7: 45,109,202 (GRCm39) |
|
probably benign |
Het |
Fut8 |
T |
C |
12: 77,495,406 (GRCm39) |
V332A |
possibly damaging |
Het |
Gm28363 |
T |
C |
1: 117,655,119 (GRCm39) |
S113P |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,052 (GRCm39) |
V104E |
probably damaging |
Het |
Ifih1 |
A |
T |
2: 62,429,240 (GRCm39) |
N899K |
probably benign |
Het |
Krt75 |
A |
G |
15: 101,476,750 (GRCm39) |
S380P |
possibly damaging |
Het |
Meiob |
T |
G |
17: 25,055,419 (GRCm39) |
F409V |
probably damaging |
Het |
Mkrn2os |
A |
T |
6: 115,562,474 (GRCm39) |
I163N |
probably damaging |
Het |
Nanos1 |
G |
T |
19: 60,745,046 (GRCm39) |
G115W |
probably damaging |
Het |
Naprt |
C |
T |
15: 75,764,461 (GRCm39) |
A276T |
probably damaging |
Het |
Oas1e |
G |
T |
5: 120,933,487 (GRCm39) |
T26N |
probably benign |
Het |
Oog2 |
T |
G |
4: 143,921,745 (GRCm39) |
D218E |
probably benign |
Het |
Optn |
T |
C |
2: 5,047,294 (GRCm39) |
N207S |
probably benign |
Het |
Or13a20 |
T |
A |
7: 140,232,466 (GRCm39) |
C191* |
probably null |
Het |
Or1l8 |
T |
C |
2: 36,817,533 (GRCm39) |
I198V |
probably benign |
Het |
Or4g16 |
T |
C |
2: 111,136,793 (GRCm39) |
M81T |
probably benign |
Het |
Or4p18 |
A |
G |
2: 88,232,552 (GRCm39) |
V242A |
possibly damaging |
Het |
Or6c63-ps1 |
T |
G |
10: 128,899,141 (GRCm39) |
Q245P |
probably damaging |
Het |
Or6c66b |
T |
C |
10: 129,376,607 (GRCm39) |
L67P |
possibly damaging |
Het |
Or8g4 |
T |
C |
9: 39,661,865 (GRCm39) |
F61S |
probably damaging |
Het |
Oxnad1 |
G |
T |
14: 31,822,976 (GRCm39) |
E236* |
probably null |
Het |
Pcdha3 |
G |
A |
18: 37,080,046 (GRCm39) |
A263T |
probably damaging |
Het |
Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
Pip5k1b |
T |
A |
19: 24,374,433 (GRCm39) |
E49D |
probably benign |
Het |
Plau |
C |
A |
14: 20,889,518 (GRCm39) |
F194L |
possibly damaging |
Het |
Ppm1n |
A |
G |
7: 19,013,666 (GRCm39) |
L95S |
probably damaging |
Het |
Pramel40 |
G |
A |
5: 94,464,984 (GRCm39) |
A457T |
possibly damaging |
Het |
Radil |
G |
T |
5: 142,471,260 (GRCm39) |
|
probably null |
Het |
Ralgapa2 |
C |
T |
2: 146,190,374 (GRCm39) |
M1266I |
probably benign |
Het |
Reln |
A |
T |
5: 22,147,618 (GRCm39) |
L2444Q |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,300,473 (GRCm39) |
V260A |
probably benign |
Het |
Rnase2b |
T |
A |
14: 51,400,222 (GRCm39) |
V101E |
probably damaging |
Het |
Rtp3 |
T |
A |
9: 110,815,772 (GRCm39) |
T198S |
probably benign |
Het |
Shisal2b |
A |
G |
13: 105,000,166 (GRCm39) |
V19A |
probably damaging |
Het |
Smad3 |
T |
A |
9: 63,573,435 (GRCm39) |
D201V |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spata7 |
T |
G |
12: 98,630,555 (GRCm39) |
F371C |
probably damaging |
Het |
Stag1 |
T |
G |
9: 100,827,942 (GRCm39) |
N990K |
probably benign |
Het |
Tbx18 |
C |
T |
9: 87,589,883 (GRCm39) |
A352T |
probably damaging |
Het |
Thada |
C |
T |
17: 84,538,391 (GRCm39) |
R1539Q |
probably benign |
Het |
Thrap3 |
A |
C |
4: 126,078,920 (GRCm39) |
|
probably benign |
Het |
Tnks |
G |
A |
8: 35,316,458 (GRCm39) |
T887M |
probably damaging |
Het |
Trap1 |
A |
C |
16: 3,870,792 (GRCm39) |
V393G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
Trrap |
G |
T |
5: 144,776,424 (GRCm39) |
G3007C |
probably benign |
Het |
Usp12 |
A |
G |
5: 146,705,745 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
G |
13: 22,579,487 (GRCm39) |
T97A |
possibly damaging |
Het |
Vmn2r110 |
C |
T |
17: 20,794,441 (GRCm39) |
V743I |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,600,256 (GRCm39) |
T905M |
probably damaging |
Het |
Wdr48 |
T |
A |
9: 119,736,855 (GRCm39) |
|
probably null |
Het |
Zfp446 |
C |
T |
7: 12,712,049 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,181,015 (GRCm39) |
S1012P |
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 |
|
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 |
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'- ACCTTGAGCTTATGTGTTTAAGAGTTC -3'
(R):5'- TAGGAGTTGCTGTTAAATTGTCAC -3'
Sequencing Primer
(F):5'- GTCAGGTTAGAAGACAACTTTATGG -3'
(R):5'- AATTGTCACTAAACTTAGCCTCTGC -3'
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Posted On |
2019-06-26 |