Incidental Mutation 'R4763:U2surp'
| ID |
357038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2surp
|
| Ensembl Gene |
ENSMUSG00000032407 |
| Gene Name |
U2 snRNP-associated SURP domain containing |
| Synonyms |
2610101N10Rik |
| MMRRC Submission |
042404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95338951-95394049 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 95393844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078374]
[ENSMUST00000079659]
[ENSMUST00000217176]
[ENSMUST00000191213]
|
| AlphaFold |
Q6NV83 |
| Predicted Effect |
probably benign
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 |
probably benign
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: ENSMUST00000185515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217176
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610303G11Rik |
A |
G |
9: 98,069,176 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd2 |
A |
G |
7: 79,009,879 (GRCm39) |
E418G |
probably benign |
Het |
| Acox2 |
G |
T |
14: 8,241,334 (GRCm38) |
H593N |
possibly damaging |
Het |
| Adam17 |
A |
G |
12: 21,384,016 (GRCm39) |
Y495H |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,929,991 (GRCm39) |
I240T |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,766 (GRCm39) |
T653A |
probably damaging |
Het |
| Atxn7l1 |
G |
A |
12: 33,408,877 (GRCm39) |
|
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,463,508 (GRCm39) |
V220A |
probably damaging |
Het |
| Card14 |
A |
T |
11: 119,234,001 (GRCm39) |
S864C |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,971,945 (GRCm39) |
A625V |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,859,287 (GRCm39) |
V425A |
probably benign |
Het |
| Cfap73 |
A |
G |
5: 120,768,294 (GRCm39) |
F155L |
probably damaging |
Het |
| Cntrl |
G |
T |
2: 35,065,563 (GRCm39) |
R2235L |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,484 (GRCm39) |
K355E |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,277 (GRCm39) |
G387D |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,952,480 (GRCm39) |
Y286C |
probably damaging |
Het |
| E2f7 |
A |
T |
10: 110,616,710 (GRCm39) |
K650M |
probably damaging |
Het |
| Fbln2 |
C |
T |
6: 91,246,982 (GRCm39) |
S1027F |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gm6811 |
A |
G |
17: 21,314,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2i |
T |
C |
5: 134,284,818 (GRCm39) |
K409E |
probably damaging |
Het |
| Hamp |
T |
A |
7: 30,641,989 (GRCm39) |
R55S |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,445,811 (GRCm39) |
T1596I |
possibly damaging |
Het |
| Hells |
T |
C |
19: 38,945,643 (GRCm39) |
V601A |
probably damaging |
Het |
| Ighv5-8 |
A |
G |
12: 113,617,161 (GRCm39) |
S34P |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,022,955 (GRCm39) |
D275G |
probably damaging |
Het |
| Meak7 |
A |
G |
8: 120,495,122 (GRCm39) |
V212A |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,629,435 (GRCm39) |
D59G |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,385,102 (GRCm39) |
|
probably null |
Het |
| Mlec |
G |
A |
5: 115,295,972 (GRCm39) |
A41V |
unknown |
Het |
| Ncoa1 |
G |
A |
12: 4,325,297 (GRCm39) |
T927I |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,127,052 (GRCm39) |
K378* |
probably null |
Het |
| Neb |
T |
A |
2: 52,216,732 (GRCm39) |
K148* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or4k41 |
T |
A |
2: 111,280,023 (GRCm39) |
C179* |
probably null |
Het |
| Or5p73 |
G |
A |
7: 108,065,393 (GRCm39) |
M287I |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,256 (GRCm39) |
T261A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,117,627 (GRCm39) |
V920M |
probably damaging |
Het |
| Parp6 |
C |
A |
9: 59,538,648 (GRCm39) |
P241H |
probably damaging |
Het |
| Pcyox1l |
A |
G |
18: 61,830,850 (GRCm39) |
Y341H |
probably benign |
Het |
| Pfas |
A |
T |
11: 68,881,020 (GRCm39) |
D1080E |
possibly damaging |
Het |
| Pi4kb |
G |
T |
3: 94,911,720 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
C |
T |
14: 70,614,227 (GRCm39) |
V846M |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,746,168 (GRCm39) |
F1941L |
probably damaging |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,142,105 (GRCm39) |
I720T |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,697,119 (GRCm39) |
L932S |
unknown |
Het |
| Rnaseh2a |
T |
A |
8: 85,692,021 (GRCm39) |
E84V |
probably benign |
Het |
| Rpl18a |
G |
A |
8: 71,348,330 (GRCm39) |
R118C |
probably benign |
Het |
| Rprm |
C |
A |
2: 53,975,228 (GRCm39) |
C30F |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 110,020,124 (GRCm39) |
L579I |
probably damaging |
Het |
| Sfn |
C |
A |
4: 133,328,656 (GRCm39) |
R142L |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,677,341 (GRCm39) |
K159E |
probably damaging |
Het |
| Sugct |
A |
T |
13: 17,837,372 (GRCm39) |
F86L |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,415,173 (GRCm39) |
S292P |
probably damaging |
Het |
| Tmem33 |
A |
T |
5: 67,443,479 (GRCm39) |
I219F |
probably benign |
Het |
| Trav8-1 |
C |
A |
14: 53,707,492 (GRCm39) |
T44K |
possibly damaging |
Het |
| Use1 |
T |
C |
8: 71,819,952 (GRCm39) |
L25P |
probably damaging |
Het |
| Vmn1r221 |
G |
T |
13: 23,401,958 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r50 |
C |
T |
6: 90,085,062 (GRCm39) |
T269I |
probably benign |
Het |
| Washc3 |
A |
G |
10: 88,055,185 (GRCm39) |
D125G |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,615,671 (GRCm39) |
H278Y |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,444 (GRCm39) |
N136D |
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 |
|
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'- AGGCATCTAAGACCGGGAAC -3'
(R):5'- TTGGCCTTGAAAGTCGGGTC -3'
Sequencing Primer
(F):5'- TCGGAACCACTGCTCTGAC -3'
(R):5'- GGTCAAGGAGAGTCCCTAAATTCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation