Incidental Mutation 'R7065:U2surp'
| ID |
568415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
045161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R7065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95367712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 413
(T413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
silent
Transcript: ENSMUST00000078374
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
| 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 |
silent
Transcript: ENSMUST00000079659
|
| SMART Domains |
Protein: ENSMUSP00000078602
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 |
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
AA Change: T413A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: T413A
| 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 |
silent
Transcript: ENSMUST00000217176
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,074,233 (GRCm39) |
S1150Y |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,595 (GRCm39) |
V1486E |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,546,725 (GRCm39) |
Y292F |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,201,691 (GRCm39) |
|
probably null |
Het |
| Ankmy2 |
G |
A |
12: 36,237,707 (GRCm39) |
E269K |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,549,402 (GRCm39) |
S1201P |
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,729,677 (GRCm39) |
Y122C |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,014,140 (GRCm39) |
Y1210F |
probably damaging |
Het |
| Cflar |
T |
G |
1: 58,770,368 (GRCm39) |
L154V |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,533,162 (GRCm39) |
D134G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Ctnna1 |
A |
T |
18: 35,285,669 (GRCm39) |
H5L |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,343,906 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,064,545 (GRCm39) |
Q2627P |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,730,709 (GRCm39) |
D569G |
probably damaging |
Het |
| Frmd4a |
G |
A |
2: 4,570,923 (GRCm39) |
|
|
Het |
| Fryl |
T |
C |
5: 73,248,099 (GRCm39) |
D1006G |
probably damaging |
Het |
| Gclm |
A |
G |
3: 122,056,320 (GRCm39) |
N137D |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,061,109 (GRCm39) |
Y531C |
probably damaging |
Het |
| Gpm6a |
C |
A |
8: 55,490,493 (GRCm39) |
N56K |
probably benign |
Het |
| Grik4 |
A |
C |
9: 42,455,127 (GRCm39) |
V656G |
probably damaging |
Het |
| Grip2 |
C |
A |
6: 91,760,550 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,697,764 (GRCm39) |
K636E |
probably damaging |
Het |
| Ifi44l |
A |
G |
3: 151,465,429 (GRCm39) |
I107T |
|
Het |
| Kif1b |
T |
C |
4: 149,286,982 (GRCm39) |
T1237A |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,386 (GRCm39) |
D131G |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,084,603 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,985,402 (GRCm39) |
M1273K |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,002,472 (GRCm39) |
M228K |
probably damaging |
Het |
| Mterf4 |
T |
A |
1: 93,232,617 (GRCm39) |
H78L |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,894,857 (GRCm39) |
L128* |
probably null |
Het |
| Nedd4l |
A |
G |
18: 65,329,040 (GRCm39) |
N627S |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,858 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,189 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Nrp1 |
C |
A |
8: 129,187,193 (GRCm39) |
T413N |
probably benign |
Het |
| Opn4 |
C |
A |
14: 34,317,834 (GRCm39) |
A267S |
probably benign |
Het |
| Or4c11c |
A |
T |
2: 88,661,730 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,523 (GRCm39) |
Y217H |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,345 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5p78 |
G |
A |
7: 108,212,266 (GRCm39) |
V251I |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,170,648 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
A |
G |
18: 37,154,679 (GRCm39) |
E466G |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,775,748 (GRCm39) |
E372G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,227,565 (GRCm39) |
V243D |
possibly damaging |
Het |
| Pla2g5 |
C |
A |
4: 138,527,915 (GRCm39) |
C117F |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,841,829 (GRCm39) |
S236P |
probably damaging |
Het |
| Raver1 |
T |
C |
9: 21,001,590 (GRCm39) |
D81G |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,378,650 (GRCm39) |
L525P |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,803,068 (GRCm39) |
E662G |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,209,486 (GRCm39) |
V66M |
probably damaging |
Het |
| Scn3a |
A |
C |
2: 65,295,199 (GRCm39) |
L1508R |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,197 (GRCm39) |
D261G |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,907,794 (GRCm39) |
R250G |
probably benign |
Het |
| Speer4d |
A |
C |
5: 15,825,421 (GRCm39) |
T49P |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,175,898 (GRCm39) |
D32E |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,224 (GRCm39) |
L269P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,628,456 (GRCm39) |
I14568T |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,784,049 (GRCm39) |
E755G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,138,896 (GRCm39) |
S92C |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,969 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,401 (GRCm39) |
S428T |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,428 (GRCm39) |
V779A |
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 |
|
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'- TTTTCACTCTCCCAAAACCACATGG -3'
(R):5'- CTTACTATCAGGCTGTTGTGGC -3'
Sequencing Primer
(F):5'- GTAATGTGAATGTACTTAACGCCCTC -3'
(R):5'- ATCAGGCTGTTGTGGCTTCCC -3'
|
| Posted On |
2019-07-17 |
Incidental Mutation