Incidental Mutation 'IGL02491:U2surp'
| ID |
295629 |
| 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 # |
IGL02491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95372273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 296
(R296S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078374
AA Change: R252S
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: R252S
| 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: R296S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: R296S
| 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: ENSMUST00000185515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190019
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191213
AA Change: R296S
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: R296S
| 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: R295S
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,067,794 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,330,166 (GRCm39) |
I443N |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,067 (GRCm39) |
I118F |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,741,974 (GRCm39) |
A1148V |
probably benign |
Het |
| Ccdc62 |
A |
T |
5: 124,099,378 (GRCm39) |
S677C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,181 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
A |
G |
19: 10,517,001 (GRCm39) |
I368V |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,428,050 (GRCm39) |
S2934P |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,777,511 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,326,039 (GRCm39) |
Y2709H |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,682 (GRCm39) |
L375Q |
possibly damaging |
Het |
| Etv4 |
A |
T |
11: 101,674,791 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
A |
9: 53,286,343 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,558,736 (GRCm39) |
H298Q |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,972,887 (GRCm39) |
Y349F |
probably benign |
Het |
| Foxs1 |
G |
A |
2: 152,774,721 (GRCm39) |
R111C |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,778,273 (GRCm39) |
L436Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,979 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,577 (GRCm38) |
C29* |
probably null |
Het |
| Hcn1 |
A |
G |
13: 117,946,576 (GRCm39) |
D317G |
unknown |
Het |
| Itgam |
A |
G |
7: 127,715,190 (GRCm39) |
N877D |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,361,757 (GRCm39) |
R1047G |
probably damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,600,879 (GRCm39) |
V241A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,170,682 (GRCm39) |
N24S |
probably null |
Het |
| Mprip |
A |
G |
11: 59,660,857 (GRCm39) |
T967A |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,732,372 (GRCm39) |
F477L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,748 (GRCm39) |
E393G |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,358 (GRCm39) |
L229H |
probably damaging |
Het |
| Or2at1 |
A |
G |
7: 99,416,540 (GRCm39) |
E57G |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,321 (GRCm39) |
K86R |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,735 (GRCm39) |
D552V |
probably damaging |
Het |
| Pglyrp3 |
C |
T |
3: 91,921,944 (GRCm39) |
S4F |
possibly damaging |
Het |
| Pramel13 |
A |
T |
4: 144,121,322 (GRCm39) |
M234K |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,229 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,753,549 (GRCm39) |
S51P |
probably damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,918,034 (GRCm39) |
Y592C |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,404 (GRCm39) |
V417D |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,160 (GRCm39) |
Y130H |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,118,953 (GRCm39) |
T5857A |
probably benign |
Het |
| Thap1 |
A |
C |
8: 26,650,885 (GRCm39) |
S52R |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,907,301 (GRCm39) |
N158S |
probably damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,626 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,521,483 (GRCm39) |
A311V |
probably benign |
Het |
| Upf2 |
A |
G |
2: 6,030,975 (GRCm39) |
D805G |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,382,630 (GRCm39) |
H2057Q |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,816,400 (GRCm39) |
D41V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,703 (GRCm39) |
L192* |
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,741,816 (GRCm39) |
S374T |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,942,184 (GRCm39) |
D1089E |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,193,459 (GRCm39) |
D1279V |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,831,123 (GRCm39) |
I294T |
possibly damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (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 |
|
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 |
|
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