Incidental Mutation 'IGL02503:U2surp'
| ID |
296164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL02503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95384622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 21
(V21I)
|
| 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: V21I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V21I
| 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: V21I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V21I
| 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 |
unknown
Transcript: ENSMUST00000185515
AA Change: V20I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191213
AA Change: V21I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: V21I
| 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: V21I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,390,598 (GRCm39) |
Y807* |
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
| Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,391,938 (GRCm39) |
V604E |
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
| Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
| Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
| Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
| H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
| Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
| Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,033,767 (GRCm39) |
T1037A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
| Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
| Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
| Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
| Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,449,661 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,397 (GRCm39) |
S191P |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
| Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation