Incidental Mutation 'R7061:Urb2'
| ID |
548270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urb2
|
| Ensembl Gene |
ENSMUSG00000031976 |
| Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
045384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124755036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 248
(H248Y)
|
| 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: H248Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: H248Y
| 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: H248Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: H248Y
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
G |
A |
15: 51,903,617 (GRCm39) |
M13I |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,841,509 (GRCm39) |
Y979D |
probably damaging |
Het |
| Adgrb1 |
G |
C |
15: 74,441,730 (GRCm39) |
V4L |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,110,757 (GRCm39) |
R1006Q |
unknown |
Het |
| Bpifa6 |
A |
T |
2: 153,834,236 (GRCm39) |
T343S |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,724,793 (GRCm39) |
C2957* |
probably null |
Het |
| Chd6 |
G |
A |
2: 160,867,885 (GRCm39) |
Q428* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,915,690 (GRCm39) |
C191* |
probably null |
Het |
| Cpox |
A |
G |
16: 58,491,223 (GRCm39) |
I145V |
possibly damaging |
Het |
| Csnk2a1 |
C |
T |
2: 152,116,091 (GRCm39) |
R268C |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,739,038 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,504,386 (GRCm39) |
E909G |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,228,489 (GRCm39) |
S414T |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,007,703 (GRCm39) |
F1502S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,951 (GRCm39) |
A448S |
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,410,066 (GRCm39) |
N511K |
probably benign |
Het |
| Epc2 |
G |
T |
2: 49,425,334 (GRCm39) |
R108L |
probably damaging |
Het |
| Erp44 |
T |
A |
4: 48,219,375 (GRCm39) |
I147F |
probably benign |
Het |
| Evc |
T |
C |
5: 37,476,446 (GRCm39) |
T368A |
possibly damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,452,448 (GRCm39) |
R738S |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,518 (GRCm39) |
T305A |
probably damaging |
Het |
| Grk5 |
A |
G |
19: 61,034,530 (GRCm39) |
T93A |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,528,424 (GRCm39) |
N153K |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,540,003 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,307 (GRCm39) |
L162P |
probably damaging |
Het |
| Hmgcr |
T |
A |
13: 96,802,656 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,163,691 (GRCm39) |
K218E |
unknown |
Het |
| Hydin |
A |
T |
8: 111,329,920 (GRCm39) |
I4885F |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,457,768 (GRCm39) |
|
probably null |
Het |
| Igfals |
T |
C |
17: 25,099,281 (GRCm39) |
L124P |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,811,108 (GRCm39) |
H142L |
possibly damaging |
Het |
| Iqca1l |
A |
G |
5: 24,750,063 (GRCm39) |
M660T |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,536,920 (GRCm39) |
H221Q |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,796,331 (GRCm39) |
S454P |
probably damaging |
Het |
| Meiosin |
A |
T |
7: 18,834,053 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b1 |
C |
T |
10: 39,879,382 (GRCm39) |
V172M |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,946,008 (GRCm39) |
I763K |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,749 (GRCm39) |
I594M |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,897,724 (GRCm39) |
R77S |
possibly damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,502,780 (GRCm39) |
I265M |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,587,883 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,782 (GRCm39) |
Y264C |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,942 (GRCm39) |
V276D |
possibly damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,864,976 (GRCm39) |
P257Q |
probably benign |
Het |
| Phactr1 |
A |
G |
13: 43,286,457 (GRCm39) |
D586G |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 29,973,548 (GRCm39) |
|
probably null |
Het |
| Prob1 |
A |
T |
18: 35,787,553 (GRCm39) |
S234T |
probably benign |
Het |
| Rab14 |
A |
T |
2: 35,073,429 (GRCm39) |
L131* |
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rhebl1 |
A |
G |
15: 98,777,164 (GRCm39) |
L103P |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,395,149 (GRCm39) |
F146L |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,087 (GRCm39) |
K360R |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,261 (GRCm39) |
T575I |
probably benign |
Het |
| Smo |
A |
G |
6: 29,760,229 (GRCm39) |
H776R |
probably damaging |
Het |
| Speer1f |
T |
C |
5: 11,469,071 (GRCm39) |
V74A |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,012,914 (GRCm39) |
M1V |
probably null |
Het |
| Ttn |
C |
A |
2: 76,725,036 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,240 (GRCm39) |
M130L |
probably benign |
Het |
| Vit |
A |
T |
17: 78,932,585 (GRCm39) |
N564I |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,310 (GRCm39) |
Y263* |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,620 (GRCm39) |
Y609F |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,908,512 (GRCm39) |
I876V |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,249,937 (GRCm39) |
I655T |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,779,622 (GRCm39) |
C215S |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,069 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp69 |
A |
T |
4: 120,788,598 (GRCm39) |
V239D |
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 |
|
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'- AACCCTAAGCGTGTCTTTGG -3'
(R):5'- ACTGGCTTTCTTCCTGAAGG -3'
Sequencing Primer
(F):5'- GGAGATATGACTGGACACCTCTTTC -3'
(R):5'- CTTCCTGAAGGTATGCTTCCAGAAAG -3'
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| Posted On |
2019-05-13 |
Incidental Mutation