Incidental Mutation 'R7090:Urb2'
ID |
550159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Urb2
|
Ensembl Gene |
ENSMUSG00000031976 |
Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
Synonyms |
|
MMRRC Submission |
045184-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R7090 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124757338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1015
(V1015A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034457]
[ENSMUST00000127664]
[ENSMUST00000173168]
|
AlphaFold |
E9Q7L1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034457
AA Change: V1015A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034457 Gene: ENSMUSG00000031976 AA Change: V1015A
Domain | Start | End | E-Value | Type |
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
low complexity region
|
541 |
546 |
N/A |
INTRINSIC |
low complexity region
|
576 |
590 |
N/A |
INTRINSIC |
low complexity region
|
887 |
900 |
N/A |
INTRINSIC |
low complexity region
|
1073 |
1092 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1188 |
N/A |
INTRINSIC |
low complexity region
|
1273 |
1279 |
N/A |
INTRINSIC |
Pfam:Urb2
|
1319 |
1515 |
2.7e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173168
AA Change: V1015A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133547 Gene: ENSMUSG00000031976 AA Change: V1015A
Domain | Start | End | E-Value | Type |
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
low complexity region
|
541 |
546 |
N/A |
INTRINSIC |
low complexity region
|
576 |
590 |
N/A |
INTRINSIC |
low complexity region
|
887 |
900 |
N/A |
INTRINSIC |
low complexity region
|
1073 |
1092 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1188 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calm3 |
A |
T |
7: 16,651,004 (GRCm39) |
Y139* |
probably null |
Het |
Ccdc27 |
T |
C |
4: 154,112,523 (GRCm39) |
N584S |
probably benign |
Het |
Cdh24 |
C |
G |
14: 54,876,964 (GRCm39) |
G13A |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,452,677 (GRCm39) |
K1281E |
probably damaging |
Het |
Clasp1 |
G |
T |
1: 118,409,816 (GRCm39) |
G4C |
probably benign |
Het |
Cul9 |
G |
T |
17: 46,811,765 (GRCm39) |
P2488T |
probably damaging |
Het |
Daam2 |
A |
G |
17: 49,789,973 (GRCm39) |
V428A |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,016,535 (GRCm39) |
S441G |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,255,581 (GRCm39) |
T2426A |
probably benign |
Het |
Dnai3 |
C |
A |
3: 145,746,582 (GRCm39) |
K881N |
possibly damaging |
Het |
Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
Exoc1 |
T |
C |
5: 76,714,800 (GRCm39) |
S120P |
unknown |
Het |
Fyco1 |
A |
G |
9: 123,626,784 (GRCm39) |
L1309S |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,201,114 (GRCm39) |
N111S |
possibly damaging |
Het |
Gm5901 |
A |
G |
7: 105,026,555 (GRCm39) |
T108A |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
Kcnk15 |
T |
C |
2: 163,700,637 (GRCm39) |
V292A |
probably benign |
Het |
Kdm2a |
A |
T |
19: 4,369,169 (GRCm39) |
Y1149N |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,572,529 (GRCm39) |
T1011A |
possibly damaging |
Het |
Krt35 |
A |
T |
11: 99,986,498 (GRCm39) |
|
probably null |
Het |
Lipn |
T |
A |
19: 34,049,180 (GRCm39) |
D115E |
possibly damaging |
Het |
Lpin3 |
T |
G |
2: 160,738,672 (GRCm39) |
L208R |
probably damaging |
Het |
Ltf |
C |
A |
9: 110,855,048 (GRCm39) |
Q354K |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,929,566 (GRCm39) |
C1680F |
possibly damaging |
Het |
Mtss2 |
T |
A |
8: 111,456,656 (GRCm39) |
V242E |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,131,765 (GRCm39) |
Y477C |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,981,350 (GRCm39) |
S481T |
probably benign |
Het |
Ncoa2 |
A |
G |
1: 13,257,062 (GRCm39) |
Y146H |
probably damaging |
Het |
Ntng1 |
A |
T |
3: 109,842,496 (GRCm39) |
C92* |
probably null |
Het |
Or10ad1b |
C |
T |
15: 98,125,083 (GRCm39) |
V150I |
probably benign |
Het |
Or2n1b |
G |
A |
17: 38,460,385 (GRCm39) |
G302D |
probably benign |
Het |
Or8k18 |
T |
A |
2: 86,085,420 (GRCm39) |
N206Y |
probably damaging |
Het |
Or8k31-ps1 |
T |
C |
2: 86,356,471 (GRCm39) |
I17V |
probably benign |
Het |
Os9 |
A |
T |
10: 126,935,547 (GRCm39) |
S308T |
probably benign |
Het |
Otx2 |
T |
A |
14: 48,896,192 (GRCm39) |
T289S |
probably benign |
Het |
Pakap |
C |
T |
4: 57,648,042 (GRCm39) |
A60V |
probably benign |
Het |
Pigg |
A |
G |
5: 108,484,378 (GRCm39) |
T675A |
possibly damaging |
Het |
Pink1 |
C |
T |
4: 138,042,912 (GRCm39) |
E461K |
probably damaging |
Het |
Pip5k1a |
A |
G |
3: 94,967,809 (GRCm39) |
S543P |
possibly damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,611 (GRCm39) |
T454A |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rab31 |
C |
T |
17: 66,005,012 (GRCm39) |
V83I |
possibly damaging |
Het |
Rabggtb |
G |
T |
3: 153,615,986 (GRCm39) |
D117E |
probably benign |
Het |
Rbl1 |
T |
C |
2: 156,994,820 (GRCm39) |
H951R |
probably benign |
Het |
Sapcd2 |
A |
G |
2: 25,266,091 (GRCm39) |
S314G |
probably benign |
Het |
Septin4 |
T |
C |
11: 87,475,264 (GRCm39) |
L164P |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,760 (GRCm39) |
E541G |
probably damaging |
Het |
Slc26a7 |
C |
A |
4: 14,565,460 (GRCm39) |
G208* |
probably null |
Het |
Smco2 |
A |
G |
6: 146,772,711 (GRCm39) |
I304M |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,818,491 (GRCm39) |
|
probably null |
Het |
Spocd1 |
T |
C |
4: 129,847,691 (GRCm39) |
F552L |
|
Het |
St6galnac2 |
T |
C |
11: 116,568,461 (GRCm39) |
D334G |
probably damaging |
Het |
Sub1 |
A |
G |
15: 11,986,572 (GRCm39) |
S92P |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,989,125 (GRCm39) |
F1829L |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,839,833 (GRCm39) |
V631A |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,958,904 (GRCm39) |
S113P |
probably benign |
Het |
Tgfbrap1 |
A |
C |
1: 43,110,725 (GRCm39) |
V260G |
probably damaging |
Het |
Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
Usp5 |
A |
G |
6: 124,806,357 (GRCm39) |
M1T |
probably null |
Het |
Utrn |
T |
C |
10: 12,560,260 (GRCm39) |
D1343G |
possibly damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,449,254 (GRCm39) |
Y328C |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,613,972 (GRCm39) |
E564V |
possibly damaging |
Het |
Zc3h8 |
T |
C |
2: 128,777,241 (GRCm39) |
T133A |
possibly damaging |
Het |
|
Other mutations in Urb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Urb2
|
APN |
8 |
124,755,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00705:Urb2
|
APN |
8 |
124,763,376 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02090:Urb2
|
APN |
8 |
124,754,976 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02707:Urb2
|
APN |
8 |
124,757,425 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03103:Urb2
|
APN |
8 |
124,756,491 (GRCm39) |
missense |
probably benign |
0.17 |
IGL03402:Urb2
|
APN |
8 |
124,756,588 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0037:Urb2
|
UTSW |
8 |
124,773,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0113:Urb2
|
UTSW |
8 |
124,757,665 (GRCm39) |
missense |
probably benign |
0.00 |
R0883:Urb2
|
UTSW |
8 |
124,757,709 (GRCm39) |
nonsense |
probably null |
|
R1015:Urb2
|
UTSW |
8 |
124,756,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1265:Urb2
|
UTSW |
8 |
124,751,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Urb2
|
UTSW |
8 |
124,757,647 (GRCm39) |
missense |
probably benign |
0.04 |
R1497:Urb2
|
UTSW |
8 |
124,754,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R1556:Urb2
|
UTSW |
8 |
124,757,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Urb2
|
UTSW |
8 |
124,756,363 (GRCm39) |
missense |
probably benign |
|
R1914:Urb2
|
UTSW |
8 |
124,756,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1915:Urb2
|
UTSW |
8 |
124,756,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2172:Urb2
|
UTSW |
8 |
124,757,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Urb2
|
UTSW |
8 |
124,756,878 (GRCm39) |
missense |
probably benign |
0.02 |
R2424:Urb2
|
UTSW |
8 |
124,757,165 (GRCm39) |
missense |
probably benign |
0.02 |
R4085:Urb2
|
UTSW |
8 |
124,757,680 (GRCm39) |
missense |
probably benign |
0.02 |
R4119:Urb2
|
UTSW |
8 |
124,773,979 (GRCm39) |
missense |
probably benign |
0.00 |
R4732:Urb2
|
UTSW |
8 |
124,755,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Urb2
|
UTSW |
8 |
124,755,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Urb2
|
UTSW |
8 |
124,756,374 (GRCm39) |
nonsense |
probably null |
|
R5005:Urb2
|
UTSW |
8 |
124,757,920 (GRCm39) |
missense |
probably damaging |
0.97 |
R5381:Urb2
|
UTSW |
8 |
124,756,651 (GRCm39) |
missense |
probably benign |
0.02 |
R5704:Urb2
|
UTSW |
8 |
124,764,921 (GRCm39) |
missense |
probably damaging |
0.97 |
R5891:Urb2
|
UTSW |
8 |
124,757,595 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5958:Urb2
|
UTSW |
8 |
124,756,398 (GRCm39) |
missense |
probably benign |
0.01 |
R5966:Urb2
|
UTSW |
8 |
124,754,827 (GRCm39) |
missense |
probably benign |
0.00 |
R6133:Urb2
|
UTSW |
8 |
124,755,300 (GRCm39) |
nonsense |
probably null |
|
R6136:Urb2
|
UTSW |
8 |
124,756,831 (GRCm39) |
missense |
probably benign |
|
R6341:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6343:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6344:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6417:Urb2
|
UTSW |
8 |
124,773,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R6420:Urb2
|
UTSW |
8 |
124,773,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R6585:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6586:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6587:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R6588:Urb2
|
UTSW |
8 |
124,757,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R7061:Urb2
|
UTSW |
8 |
124,755,036 (GRCm39) |
missense |
probably benign |
|
R7371:Urb2
|
UTSW |
8 |
124,755,008 (GRCm39) |
missense |
probably benign |
0.00 |
R7467:Urb2
|
UTSW |
8 |
124,755,250 (GRCm39) |
missense |
probably benign |
|
R7542:Urb2
|
UTSW |
8 |
124,755,327 (GRCm39) |
missense |
probably benign |
|
R7545:Urb2
|
UTSW |
8 |
124,756,491 (GRCm39) |
missense |
probably benign |
0.00 |
R7686:Urb2
|
UTSW |
8 |
124,771,911 (GRCm39) |
missense |
probably benign |
0.01 |
R8046:Urb2
|
UTSW |
8 |
124,754,771 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8101:Urb2
|
UTSW |
8 |
124,754,779 (GRCm39) |
missense |
probably benign |
0.01 |
R8404:Urb2
|
UTSW |
8 |
124,751,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R8879:Urb2
|
UTSW |
8 |
124,755,142 (GRCm39) |
missense |
probably benign |
0.27 |
R9141:Urb2
|
UTSW |
8 |
124,755,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9174:Urb2
|
UTSW |
8 |
124,767,987 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9184:Urb2
|
UTSW |
8 |
124,771,890 (GRCm39) |
missense |
probably benign |
0.10 |
R9270:Urb2
|
UTSW |
8 |
124,750,192 (GRCm39) |
unclassified |
probably benign |
|
R9304:Urb2
|
UTSW |
8 |
124,757,247 (GRCm39) |
missense |
probably benign |
|
R9309:Urb2
|
UTSW |
8 |
124,754,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R9328:Urb2
|
UTSW |
8 |
124,774,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R9415:Urb2
|
UTSW |
8 |
124,756,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9426:Urb2
|
UTSW |
8 |
124,755,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9429:Urb2
|
UTSW |
8 |
124,750,226 (GRCm39) |
nonsense |
probably null |
|
R9741:Urb2
|
UTSW |
8 |
124,755,751 (GRCm39) |
missense |
probably damaging |
0.99 |
X0020:Urb2
|
UTSW |
8 |
124,757,722 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0027:Urb2
|
UTSW |
8 |
124,755,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGCACTGTATTCAGGGTTATG -3'
(R):5'- TGCATCATGGCCTGCTGTAG -3'
Sequencing Primer
(F):5'- CAGGGTTATGTACGTTAGTGACATC -3'
(R):5'- GCTGTAGCAATTCAGCTAGCTCTG -3'
|
Posted On |
2019-05-15 |