Incidental Mutation 'R2240:Urb2'
ID |
240322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Urb2
|
Ensembl Gene |
ENSMUSG00000031976 |
Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
Synonyms |
|
MMRRC Submission |
040240-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R2240 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 124756878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 862
(P862T)
|
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: P862T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000034457 Gene: ENSMUSG00000031976 AA Change: P862T
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: P862T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000133547 Gene: ENSMUSG00000031976 AA Change: P862T
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,595,417 (GRCm39) |
I318N |
probably damaging |
Het |
Abl1 |
A |
G |
2: 31,690,517 (GRCm39) |
K679E |
probably benign |
Het |
Actr8 |
A |
G |
14: 29,711,714 (GRCm39) |
H420R |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,805,102 (GRCm39) |
V897D |
probably benign |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,782,633 (GRCm39) |
|
probably null |
Het |
Brd4 |
T |
C |
17: 32,432,613 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,815,514 (GRCm39) |
E184G |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,169,032 (GRCm39) |
S240G |
possibly damaging |
Het |
Cbx7 |
C |
A |
15: 79,802,558 (GRCm39) |
A240S |
probably damaging |
Het |
Ccdc181 |
A |
T |
1: 164,107,596 (GRCm39) |
D93V |
probably damaging |
Het |
Ces2g |
A |
C |
8: 105,689,134 (GRCm39) |
S37R |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,714,746 (GRCm39) |
R624W |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,531,696 (GRCm39) |
K703E |
probably benign |
Het |
Clec2h |
T |
C |
6: 128,652,845 (GRCm39) |
V204A |
probably benign |
Het |
Cltb |
T |
C |
13: 54,746,967 (GRCm39) |
N3S |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,218,582 (GRCm39) |
I65V |
unknown |
Het |
D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,021,931 (GRCm39) |
S1191G |
probably benign |
Het |
Ehf |
G |
A |
2: 103,104,420 (GRCm39) |
P163S |
probably benign |
Het |
Fam170b |
A |
C |
14: 32,557,825 (GRCm39) |
H220P |
probably damaging |
Het |
Fastkd1 |
G |
A |
2: 69,527,297 (GRCm39) |
T598I |
probably benign |
Het |
Fignl2 |
C |
T |
15: 100,951,916 (GRCm39) |
G122D |
probably damaging |
Het |
Foxp4 |
C |
A |
17: 48,182,201 (GRCm39) |
V530L |
unknown |
Het |
Gcnt1 |
G |
T |
19: 17,306,695 (GRCm39) |
D343E |
possibly damaging |
Het |
Gja8 |
T |
G |
3: 96,827,618 (GRCm39) |
N15H |
probably benign |
Het |
Gm128 |
T |
C |
3: 95,148,243 (GRCm39) |
E17G |
probably benign |
Het |
Gnl1 |
T |
C |
17: 36,293,571 (GRCm39) |
V252A |
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,166,490 (GRCm39) |
|
probably null |
Het |
Gpr179 |
A |
G |
11: 97,242,559 (GRCm39) |
L95P |
probably damaging |
Het |
Gtf2a1 |
A |
T |
12: 91,553,513 (GRCm39) |
D31E |
possibly damaging |
Het |
Il12a |
T |
A |
3: 68,601,517 (GRCm39) |
Y58* |
probably null |
Het |
Il1r2 |
T |
C |
1: 40,144,630 (GRCm39) |
W106R |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,543,488 (GRCm39) |
S374G |
probably benign |
Het |
Mafb |
A |
T |
2: 160,207,947 (GRCm39) |
V217E |
probably damaging |
Het |
Mapk13 |
T |
A |
17: 28,997,085 (GRCm39) |
D292E |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,209 (GRCm39) |
D871G |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,765,701 (GRCm39) |
T5220K |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,699,978 (GRCm39) |
I723M |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,154,668 (GRCm39) |
S127N |
probably benign |
Het |
Mpeg1 |
A |
C |
19: 12,440,402 (GRCm39) |
E620A |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,389 (GRCm39) |
F54Y |
probably damaging |
Het |
Mtx2 |
A |
G |
2: 74,699,696 (GRCm39) |
I156V |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,348 (GRCm39) |
E133G |
probably damaging |
Het |
Nid2 |
G |
A |
14: 19,855,982 (GRCm39) |
D1236N |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,491,288 (GRCm39) |
T213A |
probably benign |
Het |
Or7e173 |
A |
G |
9: 19,938,440 (GRCm39) |
S265P |
probably damaging |
Het |
Otog |
A |
G |
7: 45,890,453 (GRCm39) |
M1V |
probably null |
Het |
Pde4dip |
C |
T |
3: 97,631,480 (GRCm39) |
R1143K |
probably benign |
Het |
Pgam2 |
T |
C |
11: 5,753,265 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,090,250 (GRCm39) |
D30G |
probably damaging |
Het |
Pramel5 |
C |
A |
4: 143,999,506 (GRCm39) |
E194* |
probably null |
Het |
Prss22 |
T |
A |
17: 24,215,755 (GRCm39) |
S56C |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,778,406 (GRCm39) |
N216S |
probably benign |
Het |
Rasgrf1 |
A |
T |
9: 89,858,815 (GRCm39) |
E491V |
probably damaging |
Het |
Rbbp8 |
C |
T |
18: 11,810,726 (GRCm39) |
T76I |
probably damaging |
Het |
Rtn2 |
G |
A |
7: 19,020,754 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
A |
T |
14: 56,137,124 (GRCm39) |
N62K |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc26a3 |
T |
C |
12: 31,507,071 (GRCm39) |
V342A |
probably damaging |
Het |
Slc49a3 |
A |
G |
5: 108,592,573 (GRCm39) |
S234P |
probably benign |
Het |
Snx30 |
G |
T |
4: 59,886,515 (GRCm39) |
C308F |
probably damaging |
Het |
Timd2 |
A |
T |
11: 46,569,043 (GRCm39) |
V205E |
probably benign |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tnfaip6 |
G |
A |
2: 51,940,926 (GRCm39) |
D156N |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,232,461 (GRCm39) |
E1463D |
probably damaging |
Het |
Vmn1r64 |
A |
T |
7: 5,887,369 (GRCm39) |
L58* |
probably null |
Het |
Vmn2r3 |
C |
A |
3: 64,166,483 (GRCm39) |
G883C |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,837,465 (GRCm39) |
C2707S |
possibly damaging |
Het |
Wdr11 |
G |
T |
7: 129,207,418 (GRCm39) |
|
probably null |
Het |
Wdr37 |
T |
A |
13: 8,911,268 (GRCm39) |
|
probably benign |
Het |
Wtap |
G |
A |
17: 13,194,352 (GRCm39) |
Q95* |
probably null |
Het |
Zfp26 |
A |
T |
9: 20,348,563 (GRCm39) |
L667H |
probably damaging |
Het |
Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
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 |
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'- TTCCAGAGATGCAGTCCCTC -3'
(R):5'- AGAGCAATGCCCTAATGTGGAG -3'
Sequencing Primer
(F):5'- AGAGATGCAGTCCCTCTACTCTG -3'
(R):5'- CCCTAATGTGGAGACAGCCATG -3'
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Posted On |
2014-10-15 |