Incidental Mutation 'R1638:U2surp'
| ID |
173313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
039674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R1638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95366280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 474
(E474G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078374
AA Change: E474G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: E474G
| 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 |
possibly damaging
Transcript: ENSMUST00000079659
AA Change: E518G
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: E518G
| 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 |
possibly damaging
Transcript: ENSMUST00000217176
AA Change: E517G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1135 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.8%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
| Agfg1 |
A |
T |
1: 82,871,259 (GRCm39) |
Q497L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,986,813 (GRCm39) |
H2699R |
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,792,453 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
T |
15: 77,410,418 (GRCm39) |
V176E |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 68,113,777 (GRCm39) |
N87D |
possibly damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,309,897 (GRCm39) |
I560N |
probably damaging |
Het |
| Atp2c2 |
T |
C |
8: 120,482,742 (GRCm39) |
F868S |
possibly damaging |
Het |
| Blnk |
G |
C |
19: 40,926,122 (GRCm39) |
F326L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,089,961 (GRCm39) |
R4130* |
probably null |
Het |
| Ckap2 |
C |
T |
8: 22,665,812 (GRCm39) |
V412I |
possibly damaging |
Het |
| Clmn |
A |
G |
12: 104,748,281 (GRCm39) |
V422A |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,856 (GRCm39) |
S638P |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,524,052 (GRCm39) |
S327G |
probably benign |
Het |
| Dhx38 |
G |
A |
8: 110,280,177 (GRCm39) |
T871M |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,023,834 (GRCm39) |
K1706* |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,979,154 (GRCm39) |
L2648P |
possibly damaging |
Het |
| Elf2 |
G |
A |
3: 51,215,530 (GRCm39) |
T60I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,622,759 (GRCm39) |
C246S |
possibly damaging |
Het |
| Fcho2 |
G |
T |
13: 98,882,403 (GRCm39) |
T451K |
possibly damaging |
Het |
| Fzd9 |
T |
A |
5: 135,278,602 (GRCm39) |
I428F |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,744,667 (GRCm39) |
V122E |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,418,908 (GRCm38) |
Y8F |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,272,029 (GRCm39) |
I940V |
possibly damaging |
Het |
| Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
| Gpr6 |
A |
G |
10: 40,946,530 (GRCm39) |
S351P |
probably benign |
Het |
| Gprin1 |
T |
C |
13: 54,887,689 (GRCm39) |
E195G |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 28,125,882 (GRCm39) |
Y81* |
probably null |
Het |
| Gtf3c3 |
A |
T |
1: 54,444,278 (GRCm39) |
N703K |
probably damaging |
Het |
| Hhipl2 |
G |
A |
1: 183,208,921 (GRCm39) |
V495I |
probably benign |
Het |
| Islr |
G |
A |
9: 58,065,502 (GRCm39) |
|
probably benign |
Het |
| Lrrc36 |
T |
C |
8: 106,176,273 (GRCm39) |
Y216H |
possibly damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,252,722 (GRCm39) |
N87Y |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,906,205 (GRCm39) |
I528T |
probably benign |
Het |
| Mecr |
A |
T |
4: 131,585,127 (GRCm39) |
I156F |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,346,967 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
A |
5: 111,569,435 (GRCm39) |
L1135H |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,349,177 (GRCm39) |
S1384P |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,102,213 (GRCm39) |
N337S |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,139,293 (GRCm39) |
H3107Q |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,039,464 (GRCm39) |
R825Q |
possibly damaging |
Het |
| Nsun2 |
A |
G |
13: 69,775,705 (GRCm39) |
N383S |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,897,036 (GRCm39) |
M667K |
probably damaging |
Het |
| Or10a48 |
A |
C |
7: 108,424,442 (GRCm39) |
C255G |
probably benign |
Het |
| Or11h6 |
G |
A |
14: 50,880,565 (GRCm39) |
V276M |
possibly damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,974 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,488 (GRCm39) |
M131L |
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,033,558 (GRCm39) |
V633A |
probably benign |
Het |
| Phactr1 |
C |
T |
13: 43,110,147 (GRCm39) |
T95M |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,460,513 (GRCm39) |
I4241L |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,356,771 (GRCm39) |
E248G |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,379,509 (GRCm39) |
M393R |
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,698,148 (GRCm39) |
S532G |
probably benign |
Het |
| Rnase11 |
G |
T |
14: 51,287,058 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,090 (GRCm39) |
N172S |
possibly damaging |
Het |
| Shprh |
T |
A |
10: 11,032,822 (GRCm39) |
D269E |
probably benign |
Het |
| Slc16a1 |
T |
C |
3: 104,556,798 (GRCm39) |
I61T |
possibly damaging |
Het |
| Slc38a2 |
A |
C |
15: 96,590,417 (GRCm39) |
I309S |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,663,149 (GRCm39) |
Q170H |
unknown |
Het |
| Stk3 |
A |
C |
15: 35,008,454 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,568,015 (GRCm39) |
C1306* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,719,889 (GRCm39) |
M1254V |
probably damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,587 (GRCm39) |
F55I |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,529,939 (GRCm39) |
I279T |
possibly damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,581,543 (GRCm39) |
D15G |
probably benign |
Het |
| Zfp827 |
C |
A |
8: 79,802,975 (GRCm39) |
P516T |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,542,104 (GRCm39) |
|
probably null |
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 |
|
|
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'- ATGCATAGCCAATGCCTGACCC -3'
(R):5'- GCCCATGTTTACTACAGGTGGAAGC -3'
Sequencing Primer
(F):5'- AACAGTCTCTGGGTAATCTGTGTAAG -3'
(R):5'- GCAGGCAAGTAGGATTAATTACTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation