Incidental Mutation 'R8046:Urb2'
ID |
618757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Urb2
|
Ensembl Gene |
ENSMUSG00000031976 |
Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
Synonyms |
|
MMRRC Submission |
067483-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R8046 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124754771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 159
(R159S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034457]
[ENSMUST00000127664]
[ENSMUST00000173168]
|
AlphaFold |
E9Q7L1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034457
AA Change: R159S
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034457 Gene: ENSMUSG00000031976 AA Change: R159S
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 |
possibly damaging
Transcript: ENSMUST00000173168
AA Change: R159S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133547 Gene: ENSMUSG00000031976 AA Change: R159S
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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
T |
5: 77,044,325 (GRCm39) |
D188E |
probably benign |
Het |
Ahcyl2 |
T |
C |
6: 29,878,619 (GRCm39) |
L273P |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,359,752 (GRCm39) |
T227A |
probably benign |
Het |
Ankle1 |
C |
T |
8: 71,860,665 (GRCm39) |
T374M |
probably damaging |
Het |
Arhgap18 |
T |
C |
10: 26,763,853 (GRCm39) |
V481A |
probably damaging |
Het |
Astn2 |
A |
T |
4: 66,184,587 (GRCm39) |
L170* |
probably null |
Het |
Bms1 |
T |
C |
6: 118,385,105 (GRCm39) |
T368A |
probably benign |
Het |
Boll |
A |
G |
1: 55,385,562 (GRCm39) |
I121T |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,416,296 (GRCm39) |
C613G |
probably benign |
Het |
Cdk14 |
T |
A |
5: 5,299,159 (GRCm39) |
I65F |
possibly damaging |
Het |
Chn1 |
T |
C |
2: 73,448,363 (GRCm39) |
D335G |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,613,508 (GRCm39) |
|
probably null |
Het |
Cplane2 |
A |
C |
4: 140,947,348 (GRCm39) |
Q243P |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,297,492 (GRCm39) |
|
probably benign |
Het |
Dhx40 |
A |
T |
11: 86,675,766 (GRCm39) |
C507* |
probably null |
Het |
Dok2 |
A |
G |
14: 71,015,482 (GRCm39) |
D403G |
probably damaging |
Het |
Eif1ad14 |
T |
C |
12: 87,886,335 (GRCm39) |
D98G |
probably benign |
Het |
Eif2b5 |
A |
G |
16: 20,325,154 (GRCm39) |
T556A |
possibly damaging |
Het |
Eml6 |
A |
T |
11: 29,708,981 (GRCm39) |
V1480E |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Glra1 |
A |
G |
11: 55,427,225 (GRCm39) |
S120P |
probably damaging |
Het |
Habp4 |
T |
C |
13: 64,322,656 (GRCm39) |
S242P |
probably benign |
Het |
Igkv12-46 |
A |
G |
6: 69,741,570 (GRCm39) |
I95T |
probably damaging |
Het |
Itch |
G |
T |
2: 155,052,422 (GRCm39) |
G674V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,327,957 (GRCm39) |
L92P |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 188,990,933 (GRCm39) |
|
probably null |
Het |
Krt75 |
T |
C |
15: 101,481,199 (GRCm39) |
T192A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,159,199 (GRCm39) |
K1694N |
|
Het |
Lrrc14 |
A |
G |
15: 76,598,731 (GRCm39) |
K456E |
possibly damaging |
Het |
Map1lc3a |
G |
T |
2: 155,119,129 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
A |
13: 100,358,741 (GRCm39) |
M832L |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,798 (GRCm39) |
T263A |
probably benign |
Het |
Nnt |
A |
T |
13: 119,511,286 (GRCm39) |
M330K |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,308,683 (GRCm39) |
N1711D |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,135 (GRCm39) |
N285D |
possibly damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
Or51ab3 |
T |
A |
7: 103,201,584 (GRCm39) |
S197R |
possibly damaging |
Het |
Or8b8 |
A |
T |
9: 37,808,685 (GRCm39) |
|
probably benign |
Het |
Pag1 |
A |
G |
3: 9,764,482 (GRCm39) |
Y224H |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,958,587 (GRCm39) |
C322R |
possibly damaging |
Het |
Pde8a |
A |
T |
7: 80,967,118 (GRCm39) |
T420S |
probably benign |
Het |
Per2 |
A |
C |
1: 91,363,425 (GRCm39) |
L365R |
possibly damaging |
Het |
Pml |
A |
G |
9: 58,154,256 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
T |
A |
15: 103,446,305 (GRCm39) |
M1L |
possibly damaging |
Het |
Ppp3r2 |
G |
T |
4: 49,681,913 (GRCm39) |
C12* |
probably null |
Het |
Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
Scyl1 |
C |
T |
19: 5,810,620 (GRCm39) |
R531Q |
possibly damaging |
Het |
Skp2 |
C |
A |
15: 9,139,687 (GRCm39) |
V38F |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,296,974 (GRCm39) |
C42R |
probably damaging |
Het |
Tekt5 |
A |
G |
16: 10,213,277 (GRCm39) |
F3L |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,147,513 (GRCm39) |
K32R |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,676,132 (GRCm39) |
R350W |
probably damaging |
Het |
Tph2 |
A |
T |
10: 115,015,499 (GRCm39) |
I121N |
possibly damaging |
Het |
Trim37 |
A |
G |
11: 87,037,794 (GRCm39) |
D176G |
possibly damaging |
Het |
Trpc4 |
A |
T |
3: 54,102,335 (GRCm39) |
I78F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,609,829 (GRCm39) |
K17526E |
probably damaging |
Het |
Tuba8 |
A |
C |
6: 121,199,832 (GRCm39) |
Y172S |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Usp25 |
T |
A |
16: 76,906,063 (GRCm39) |
C840S |
probably damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,692,964 (GRCm39) |
K304* |
probably null |
Het |
Vmn1r37 |
C |
A |
6: 66,708,656 (GRCm39) |
T94N |
probably damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,614,479 (GRCm39) |
N445S |
probably damaging |
Het |
Wnk4 |
G |
A |
11: 101,164,918 (GRCm39) |
G749D |
probably benign |
Het |
Wscd2 |
G |
A |
5: 113,689,176 (GRCm39) |
V61I |
probably benign |
Het |
Zfp85 |
T |
A |
13: 67,897,098 (GRCm39) |
R325* |
probably null |
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 |
|
R7090:Urb2
|
UTSW |
8 |
124,757,338 (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 |
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'- GGGTTCAGGTGATCATGAGC -3'
(R):5'- TAGCTGACCCTGACTAGCTTG -3'
Sequencing Primer
(F):5'- ATATCTGTGCCGTCCTGA -3'
(R):5'- ACTAGCTTGGGTCCACGTG -3'
|
Posted On |
2020-01-23 |