Incidental Mutation 'R0113:Urb2'
| ID |
20589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urb2
|
| Ensembl Gene |
ENSMUSG00000031976 |
| Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
038399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R0113 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124757665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1124
(V1124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034457]
[ENSMUST00000127664]
[ENSMUST00000173168]
|
| AlphaFold |
E9Q7L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034457
AA Change: V1124A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: V1124A
| 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: V1124A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: V1124A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212460
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
A |
G |
8: 10,976,126 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,242,114 (GRCm39) |
I1326F |
possibly damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Aspscr1 |
C |
G |
11: 120,579,751 (GRCm39) |
Q97E |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,984,330 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,050,554 (GRCm39) |
|
probably null |
Het |
| Brme1 |
C |
T |
8: 84,893,871 (GRCm39) |
T311I |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,960,214 (GRCm39) |
Y279F |
probably damaging |
Het |
| Cav1 |
A |
T |
6: 17,308,048 (GRCm39) |
S67C |
possibly damaging |
Het |
| Ceacam23 |
G |
A |
7: 17,642,873 (GRCm39) |
|
noncoding transcript |
Het |
| Celf2 |
A |
C |
2: 6,629,525 (GRCm39) |
H113Q |
probably damaging |
Het |
| Cep170 |
A |
C |
1: 176,586,021 (GRCm39) |
N590K |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
| Chrna1 |
C |
A |
2: 73,397,180 (GRCm39) |
D370Y |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,034,849 (GRCm39) |
G2441C |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,495 (GRCm39) |
D984N |
possibly damaging |
Het |
| Dhrs1 |
T |
C |
14: 55,977,396 (GRCm39) |
T241A |
probably benign |
Het |
| Edar |
A |
C |
10: 58,465,271 (GRCm39) |
C31G |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,514,682 (GRCm39) |
S24P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,794,061 (GRCm39) |
E669G |
probably damaging |
Het |
| Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
| G3bp1 |
T |
A |
11: 55,386,252 (GRCm39) |
V237E |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,888,889 (GRCm39) |
E163G |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,932 (GRCm39) |
D192G |
possibly damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,750,968 (GRCm39) |
T810A |
|
Het |
| Kalrn |
A |
G |
16: 33,870,306 (GRCm39) |
|
probably benign |
Het |
| Kcnk6 |
T |
C |
7: 28,931,634 (GRCm39) |
D92G |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mfsd6 |
A |
T |
1: 52,748,348 (GRCm39) |
N172K |
probably damaging |
Het |
| Mtcl1 |
G |
T |
17: 66,661,237 (GRCm39) |
Q1225K |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,185,701 (GRCm39) |
T948M |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,419 (GRCm39) |
K104E |
probably damaging |
Het |
| Nup58 |
G |
A |
14: 60,488,740 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,965,241 (GRCm39) |
K1608N |
probably damaging |
Het |
| Or10n1 |
T |
A |
9: 39,525,298 (GRCm39) |
I145K |
probably benign |
Het |
| Or1j21 |
G |
A |
2: 36,684,006 (GRCm39) |
G253R |
probably damaging |
Het |
| Or1j21 |
G |
T |
2: 36,684,007 (GRCm39) |
G253V |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,688,968 (GRCm39) |
D186G |
probably damaging |
Het |
| Poli |
C |
T |
18: 70,661,829 (GRCm39) |
C57Y |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,345,927 (GRCm39) |
Y256C |
probably benign |
Het |
| Satb1 |
C |
A |
17: 52,089,726 (GRCm39) |
E374* |
probably null |
Het |
| Scn4a |
C |
T |
11: 106,236,262 (GRCm39) |
E333K |
probably benign |
Het |
| Sec14l2 |
C |
T |
11: 4,053,661 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,923,261 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,977,352 (GRCm39) |
S1266P |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,080,496 (GRCm39) |
E4810G |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,448,841 (GRCm39) |
I618T |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,657 (GRCm39) |
N821K |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,762,628 (GRCm39) |
V381E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,636,115 (GRCm39) |
S43G |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,338,852 (GRCm39) |
E39G |
possibly damaging |
Het |
| Usp13 |
A |
G |
3: 32,872,025 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,631 (GRCm39) |
S105C |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,501,412 (GRCm39) |
T23A |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,978,148 (GRCm39) |
T755M |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,187,183 (GRCm39) |
M1071K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,066 (GRCm39) |
C188S |
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 |
|
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 |
|
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'- AGCTTCCTGCAAAGAGGGGAAAATC -3'
(R):5'- TGCAATGCTGCCTGGAAAGACTG -3'
Sequencing Primer
(F):5'- GCTCTAACCAAGTTGTGTCAG -3'
(R):5'- TGCCTGGAAAGACTGAGCATTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation