Incidental Mutation 'R7761:U2surp'
| ID |
597875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
045817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7761 (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 G
at 95370814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 420
(V420A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078374
AA Change: V376A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V376A
| 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: V420A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V420A
| 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 |
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: V419A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5189 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (72/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,369,447 (GRCm39) |
C378Y |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,497,895 (GRCm39) |
L421R |
probably damaging |
Het |
| AI837181 |
A |
G |
19: 5,476,319 (GRCm39) |
T161A |
probably benign |
Het |
| Ascl2 |
A |
G |
7: 142,521,840 (GRCm39) |
S203P |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,052,580 (GRCm39) |
W364L |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,293,186 (GRCm39) |
T245A |
possibly damaging |
Het |
| Cfap99 |
C |
T |
5: 34,480,774 (GRCm39) |
Q475* |
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,745 (GRCm39) |
T104I |
possibly damaging |
Het |
| Cimap1c |
A |
G |
9: 56,759,822 (GRCm39) |
L16P |
unknown |
Het |
| Cln3 |
A |
T |
7: 126,180,886 (GRCm39) |
Y52N |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,519,340 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,920,833 (GRCm39) |
D399G |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,707 (GRCm39) |
K303* |
probably null |
Het |
| Dbnl |
A |
G |
11: 5,738,597 (GRCm39) |
Q13R |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,987,648 (GRCm39) |
Q2418L |
probably damaging |
Het |
| Echs1 |
A |
T |
7: 139,692,378 (GRCm39) |
I123N |
probably damaging |
Het |
| Exd2 |
T |
C |
12: 80,522,546 (GRCm39) |
S2P |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,650,382 (GRCm39) |
F167L |
probably damaging |
Het |
| Fam83g |
C |
A |
11: 61,575,584 (GRCm39) |
D75E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,730,803 (GRCm39) |
|
probably null |
Het |
| Gm10283 |
A |
T |
8: 60,954,236 (GRCm39) |
|
probably null |
Het |
| Gm14410 |
T |
C |
2: 176,885,527 (GRCm39) |
N246D |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,249 (GRCm39) |
Q59L |
probably damaging |
Het |
| Hic1 |
C |
T |
11: 75,058,200 (GRCm39) |
A230T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,598,196 (GRCm39) |
L1702P |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,955 (GRCm39) |
Y773N |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,363,853 (GRCm39) |
R583* |
probably null |
Het |
| Lrch4 |
T |
A |
5: 137,638,025 (GRCm39) |
H102Q |
|
Het |
| Ltn1 |
T |
C |
16: 87,208,681 (GRCm39) |
T806A |
probably benign |
Het |
| Luc7l2 |
G |
A |
6: 38,531,999 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,728,055 (GRCm39) |
I25T |
unknown |
Het |
| Muc16 |
G |
T |
9: 18,491,870 (GRCm39) |
T6727N |
probably damaging |
Het |
| Nalcn |
C |
A |
14: 123,531,791 (GRCm39) |
G1353V |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,531,792 (GRCm39) |
G1353R |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,358,500 (GRCm39) |
P2476S |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,330,550 (GRCm39) |
T233A |
probably damaging |
Het |
| Nobox |
G |
A |
6: 43,281,125 (GRCm39) |
Q450* |
probably null |
Het |
| Nostrin |
T |
G |
2: 68,991,466 (GRCm39) |
L153R |
possibly damaging |
Het |
| Nup160 |
T |
C |
2: 90,533,456 (GRCm39) |
V635A |
probably benign |
Het |
| Opn4 |
T |
A |
14: 34,320,809 (GRCm39) |
M84L |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f53 |
T |
C |
2: 111,087,519 (GRCm39) |
S20P |
possibly damaging |
Het |
| Or4k77 |
C |
T |
2: 111,199,138 (GRCm39) |
H54Y |
probably benign |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,775,926 (GRCm39) |
I184T |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,841,884 (GRCm39) |
Q13R |
probably benign |
Het |
| Pax6 |
T |
G |
2: 105,522,036 (GRCm39) |
F231C |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,347 (GRCm39) |
Y30H |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,393,280 (GRCm39) |
T1872A |
probably benign |
Het |
| Pln |
T |
C |
10: 53,220,005 (GRCm39) |
S16P |
probably damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,022,080 (GRCm39) |
E308K |
probably damaging |
Het |
| Prp2 |
C |
T |
6: 132,577,306 (GRCm39) |
Q198* |
probably null |
Het |
| Ptpn20 |
T |
A |
14: 33,344,509 (GRCm39) |
S144R |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,404,492 (GRCm39) |
F10L |
probably benign |
Het |
| Rapgefl1 |
A |
T |
11: 98,728,485 (GRCm39) |
D169V |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,460 (GRCm39) |
Y811H |
possibly damaging |
Het |
| Rcor1 |
T |
A |
12: 111,076,297 (GRCm39) |
F418L |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,332,282 (GRCm39) |
T520A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,359,798 (GRCm39) |
T137S |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,379,946 (GRCm39) |
N962S |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,439,141 (GRCm39) |
I465N |
probably benign |
Het |
| Spcs1 |
T |
A |
14: 30,723,607 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,860 (GRCm39) |
V2039A |
probably benign |
Het |
| Syt11 |
G |
T |
3: 88,669,778 (GRCm39) |
T38K |
possibly damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,914,468 (GRCm39) |
C454S |
probably damaging |
Het |
| Tfap2a |
G |
C |
13: 40,878,656 (GRCm39) |
H155D |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,149,565 (GRCm39) |
K273R |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,741 (GRCm39) |
A467T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,550,274 (GRCm39) |
T31636A |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,940,826 (GRCm39) |
D31G |
probably benign |
Het |
| Vps35 |
T |
C |
8: 86,010,707 (GRCm39) |
E212G |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,310 (GRCm39) |
I63V |
possibly damaging |
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 |
|
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 |
|
|
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'- GGCATGTAATCCAGATGTTTATCC -3'
(R):5'- ACTGTGAACACATCCATTTGC -3'
Sequencing Primer
(F):5'- GTTTCAAATTAGCAGACCAACAACTC -3'
(R):5'- CTGTGAACACATCCATTTGCATTATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation