Incidental Mutation 'R4596:U2surp'
| ID |
344396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
041812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R4596 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95367681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 437
(V437I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000191213]
[ENSMUST00000217176]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078374
AA Change: V394I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V394I
| 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: V438I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V438I
| 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
AA Change: C423Y
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: C423Y
| 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: V437I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,088 (GRCm39) |
K429E |
probably benign |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,119,341 (GRCm39) |
S141P |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 52,999,060 (GRCm39) |
V124A |
probably benign |
Het |
| Anxa6 |
G |
T |
11: 54,885,409 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,681 (GRCm39) |
|
probably null |
Het |
| Asz1 |
A |
T |
6: 18,103,592 (GRCm39) |
I116K |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,082 (GRCm39) |
N314D |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,149 (GRCm39) |
V376A |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,728 (GRCm39) |
T196A |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,189 (GRCm39) |
V225A |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,448,940 (GRCm39) |
P1217S |
unknown |
Het |
| Dync2h1 |
C |
T |
9: 6,992,595 (GRCm39) |
D3996N |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,838 (GRCm39) |
N6S |
probably benign |
Het |
| Fhod3 |
A |
T |
18: 25,248,775 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gmps |
G |
T |
3: 63,901,338 (GRCm39) |
E386* |
probably null |
Het |
| Hspa13 |
C |
T |
16: 75,555,114 (GRCm39) |
G324D |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Itgb1bp1 |
C |
A |
12: 21,322,135 (GRCm39) |
L101F |
probably damaging |
Het |
| Jak3 |
T |
A |
8: 72,137,275 (GRCm39) |
S779T |
probably damaging |
Het |
| Klhl21 |
G |
T |
4: 152,096,997 (GRCm39) |
R421L |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,422 (GRCm39) |
F212S |
probably damaging |
Het |
| Msl3l2 |
T |
A |
10: 55,991,741 (GRCm39) |
F155L |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,078,132 (GRCm39) |
K406E |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,262 (GRCm39) |
H933L |
probably damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,538 (GRCm39) |
T304A |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,458 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,631 (GRCm39) |
H176Q |
probably damaging |
Het |
| Or9q2 |
G |
A |
19: 13,772,264 (GRCm39) |
T237I |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,827,435 (GRCm39) |
I467V |
probably benign |
Het |
| Pcdha8 |
A |
C |
18: 37,126,611 (GRCm39) |
Q364H |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,652 (GRCm39) |
T948A |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,507,430 (GRCm39) |
V311D |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,671,558 (GRCm39) |
Y495C |
probably benign |
Het |
| Sec61g |
A |
T |
11: 16,458,127 (GRCm39) |
S23T |
probably benign |
Het |
| Sema3a |
G |
T |
5: 13,620,125 (GRCm39) |
V458F |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,907,078 (GRCm39) |
E65D |
probably damaging |
Het |
| Slc35f6 |
T |
C |
5: 30,805,406 (GRCm39) |
M14T |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,127,202 (GRCm39) |
I882F |
probably damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,860 (GRCm39) |
E48D |
possibly damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,236 (GRCm39) |
I270F |
possibly damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,389 (GRCm39) |
I121V |
probably benign |
Het |
| Trim30d |
A |
T |
7: 104,121,733 (GRCm39) |
H337Q |
probably benign |
Het |
| Tvp23b |
G |
A |
11: 62,774,544 (GRCm39) |
A63T |
probably benign |
Het |
| Ube2i |
T |
C |
17: 25,484,298 (GRCm39) |
|
probably benign |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,306 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,060,183 (GRCm39) |
S310F |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,058,887 (GRCm39) |
M327L |
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 |
|
|
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'- ACAGCCAAAGGACAATACTTGG -3'
(R):5'- GCCTTTAGTGTGTGCTCCAC -3'
Sequencing Primer
(F):5'- TGGAAATCTTTTCACTCTCCCAAAAC -3'
(R):5'- CTGCACCATTTTAGTAACTTAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation