Incidental Mutation 'R7542:Urb2'
| ID |
583956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urb2
|
| Ensembl Gene |
ENSMUSG00000031976 |
| Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
045614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124755327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 345
(I345V)
|
| 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: I345V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: I345V
| 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: I345V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: I345V
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,848 (GRCm39) |
T439S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,732 (GRCm39) |
S1552T |
|
Het |
| Akap6 |
A |
G |
12: 53,116,017 (GRCm39) |
E1040G |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,606,344 (GRCm39) |
T2196S |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,582 (GRCm39) |
Q89R |
possibly damaging |
Het |
| AW551984 |
T |
A |
9: 39,505,927 (GRCm39) |
E423D |
possibly damaging |
Het |
| Ccpg1 |
T |
A |
9: 72,919,741 (GRCm39) |
V452D |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,190 (GRCm39) |
F286L |
probably damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Clgn |
A |
T |
8: 84,122,174 (GRCm39) |
S32C |
possibly damaging |
Het |
| Csk |
C |
A |
9: 57,536,283 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
A |
G |
3: 83,176,591 (GRCm39) |
T850A |
probably benign |
Het |
| Defb2 |
T |
C |
8: 22,333,360 (GRCm39) |
V45A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,621,599 (GRCm39) |
Q777R |
probably damaging |
Het |
| Dll1 |
C |
T |
17: 15,590,609 (GRCm39) |
C369Y |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,823,658 (GRCm39) |
I3766V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,365,543 (GRCm39) |
|
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,764,815 (GRCm39) |
M297T |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,504 (GRCm39) |
D3052G |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,770 (GRCm39) |
I3141F |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,741,422 (GRCm39) |
V180A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,000 (GRCm39) |
D1502E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,196 (GRCm39) |
N3643I |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Glb1l3 |
C |
A |
9: 26,729,491 (GRCm39) |
A659S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,288,741 (GRCm39) |
R175* |
probably null |
Het |
| Gna15 |
A |
G |
10: 81,350,136 (GRCm39) |
S89P |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,415 (GRCm39) |
T203A |
possibly damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,138 (GRCm39) |
D476G |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,905,387 (GRCm39) |
T216A |
possibly damaging |
Het |
| Kdm2a |
G |
A |
19: 4,383,858 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,553,094 (GRCm39) |
I1332T |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,007 (GRCm39) |
C317R |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,272,354 (GRCm39) |
V707A |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,681,705 (GRCm39) |
R281C |
probably benign |
Het |
| Med25 |
A |
T |
7: 44,541,215 (GRCm39) |
D99E |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,322,642 (GRCm39) |
D62E |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,964 (GRCm39) |
T478S |
probably damaging |
Het |
| Myod1 |
A |
T |
7: 46,026,097 (GRCm39) |
M1L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,394 (GRCm39) |
M741K |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,859,197 (GRCm39) |
K618T |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,789,119 (GRCm39) |
E103V |
probably benign |
Het |
| Pcdha2 |
G |
A |
18: 37,073,142 (GRCm39) |
G258R |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,080,784 (GRCm39) |
A509T |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,673,971 (GRCm39) |
V315A |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,853,903 (GRCm39) |
V107A |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,822,146 (GRCm39) |
|
probably null |
Het |
| Rab7b |
C |
T |
1: 131,639,379 (GRCm39) |
H182Y |
probably benign |
Het |
| Reln |
C |
A |
5: 22,160,179 (GRCm39) |
G2130V |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,941,296 (GRCm39) |
M1K |
probably null |
Het |
| Rras |
G |
A |
7: 44,669,766 (GRCm39) |
R94Q |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,871 (GRCm39) |
L318Q |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,747 (GRCm39) |
|
probably null |
Het |
| Setd1b |
A |
T |
5: 123,286,510 (GRCm39) |
M519L |
unknown |
Het |
| Tep1 |
G |
A |
14: 51,099,948 (GRCm39) |
Q426* |
probably null |
Het |
| Tesk1 |
G |
T |
4: 43,445,941 (GRCm39) |
M291I |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,595,439 (GRCm39) |
D536G |
probably benign |
Het |
| Thbs1 |
C |
T |
2: 117,951,655 (GRCm39) |
T825M |
probably damaging |
Het |
| Tmem59l |
T |
C |
8: 70,937,814 (GRCm39) |
N189D |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,031,425 (GRCm39) |
D463E |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,075 (GRCm39) |
Y706C |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,842 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
C |
17: 28,582,729 (GRCm39) |
K140E |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,488 (GRCm39) |
M242V |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,817,785 (GRCm39) |
V509A |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,443 (GRCm39) |
C402R |
probably benign |
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 |
|
|
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'- TGATTGCAAGACTGGTAGAGCC -3'
(R):5'- ATCTTGAGGCAGCGAAACC -3'
Sequencing Primer
(F):5'- AGCCTGGCTATGTCAGATCAGAC -3'
(R):5'- CACAGATGCTTGTGAATGGTTGATC -3'
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| Posted On |
2019-10-17 |
Incidental Mutation