Incidental Mutation 'R2424:Urb2'
ID |
249490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Urb2
|
Ensembl Gene |
ENSMUSG00000031976 |
Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
Synonyms |
|
MMRRC Submission |
040386-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R2424 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 124757165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 957
(N957K)
|
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: N957K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000034457 Gene: ENSMUSG00000031976 AA Change: N957K
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: N957K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000133547 Gene: ENSMUSG00000031976 AA Change: N957K
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,768,222 (GRCm39) |
S378T |
probably damaging |
Het |
Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
Mybpc3 |
A |
T |
2: 90,966,138 (GRCm39) |
M1233L |
probably benign |
Het |
Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,730 (GRCm39) |
T691A |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
A |
G |
5: 127,941,663 (GRCm39) |
V479A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
T |
C |
17: 23,515,842 (GRCm39) |
T550A |
possibly damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
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 |
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'- TAAAAGGCCTCCTGGAGCTC -3'
(R):5'- TTTTCCCGAAGTTGAGCACCAAG -3'
Sequencing Primer
(F):5'- GGAGCTCTTAGAAGTCATCTCTGC -3'
(R):5'- CTCAGCTTGACTTGGGTAAGCATC -3'
|
Posted On |
2014-11-12 |