Incidental Mutation 'R7545:Urb2'
| ID |
584165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urb2
|
| Ensembl Gene |
ENSMUSG00000031976 |
| Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
045650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124756491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 733
(S733P)
|
| 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: S733P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: S733P
| 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: S733P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: S733P
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
| A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
| Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
| Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
| Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
| Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
| Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,322,359 (GRCm39) |
K1269E |
possibly damaging |
Het |
| Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
| Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
| Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
| Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
| Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
| Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
| Myt1l |
G |
A |
12: 29,877,087 (GRCm39) |
R246Q |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
| Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
| Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,959,766 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
| Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,020,339 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
| Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,359 (GRCm39) |
R836* |
probably null |
Het |
| Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
| Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
| Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
| Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
| Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
| Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
| Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
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 |
|
|
R7542:Urb2
|
UTSW |
8 |
124,755,327 (GRCm39) |
missense |
probably benign |
|
|
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'- AGGTACTGCTTAGAACAGCTG -3'
(R):5'- AGGGACTGCATCTCTGGAAAG -3'
Sequencing Primer
(F):5'- ACAGCTGTATCTTCAGAAGGTG -3'
(R):5'- CTGCATCTCTGGAAAGAGAGGGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation