Incidental Mutation 'R6341:Urb2'
| ID |
514396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urb2
|
| Ensembl Gene |
ENSMUSG00000031976 |
| Gene Name |
URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
044495-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R6341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124748247-124775244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124757864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1190
(E1190D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034457]
[ENSMUST00000127664]
[ENSMUST00000173168]
|
| AlphaFold |
E9Q7L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034457
AA Change: E1190D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: E1190D
| 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 damaging
Transcript: ENSMUST00000173168
AA Change: E1190D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: E1190D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,924,364 (GRCm39) |
D658G |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,653 (GRCm39) |
H13R |
probably benign |
Het |
| Ankrd27 |
G |
T |
7: 35,326,828 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,840,270 (GRCm39) |
T704A |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,494,573 (GRCm39) |
M1602K |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,465,978 (GRCm39) |
S105P |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,113,366 (GRCm39) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,496,072 (GRCm39) |
I22V |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,700,933 (GRCm39) |
V295G |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,115,551 (GRCm39) |
D594E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,676,368 (GRCm39) |
|
probably null |
Het |
| Duox1 |
T |
C |
2: 122,168,202 (GRCm39) |
I1109T |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,788,204 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,078,193 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
T |
G |
15: 83,820,139 (GRCm39) |
Q714P |
possibly damaging |
Het |
| Erc1 |
A |
G |
6: 119,754,959 (GRCm39) |
L464P |
possibly damaging |
Het |
| Fam234a |
T |
A |
17: 26,432,667 (GRCm39) |
H494L |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,065,127 (GRCm39) |
V694A |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,763,954 (GRCm39) |
D1399G |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac3 |
A |
G |
18: 38,077,217 (GRCm39) |
L219P |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,032,022 (GRCm39) |
F52S |
probably damaging |
Het |
| Ints7 |
C |
A |
1: 191,345,239 (GRCm39) |
T643K |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,816,064 (GRCm39) |
I878M |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,946,677 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,890,368 (GRCm39) |
Y552* |
probably null |
Het |
| Mafb |
T |
C |
2: 160,208,371 (GRCm39) |
T76A |
probably damaging |
Het |
| Man2b1 |
A |
T |
8: 85,822,028 (GRCm39) |
S748C |
probably damaging |
Het |
| Mmp15 |
G |
T |
8: 96,092,091 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,679,019 (GRCm39) |
R335W |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,355,229 (GRCm39) |
D1005V |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 66,973,822 (GRCm39) |
F165S |
probably benign |
Het |
| Nacc1 |
T |
C |
8: 85,401,420 (GRCm39) |
D419G |
probably benign |
Het |
| Neb |
G |
A |
2: 52,099,486 (GRCm39) |
S4545L |
probably damaging |
Het |
| Niban3 |
C |
T |
8: 72,052,721 (GRCm39) |
P65L |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,339,768 (GRCm39) |
I106T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or5b12 |
T |
C |
19: 12,896,843 (GRCm39) |
T277A |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,602,227 (GRCm39) |
Q2283L |
probably benign |
Het |
| Phax |
C |
T |
18: 56,706,173 (GRCm39) |
T21M |
possibly damaging |
Het |
| Pitpnm1 |
A |
T |
19: 4,152,829 (GRCm39) |
K79* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,799,201 (GRCm39) |
F2807I |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,190,572 (GRCm39) |
R427C |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,288,693 (GRCm39) |
F757L |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,492,907 (GRCm39) |
D208G |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,863,538 (GRCm39) |
N156I |
probably benign |
Het |
| Rasl11b |
T |
C |
5: 74,359,037 (GRCm39) |
S181P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,222,199 (GRCm39) |
|
probably null |
Het |
| Rlf |
G |
A |
4: 121,006,557 (GRCm39) |
Q808* |
probably null |
Het |
| Rogdi |
G |
T |
16: 4,831,241 (GRCm39) |
|
probably null |
Het |
| Sec24a |
A |
T |
11: 51,608,603 (GRCm39) |
V573D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,223,615 (GRCm39) |
T200A |
probably damaging |
Het |
| Srgap2 |
C |
T |
1: 131,219,367 (GRCm39) |
R259H |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,574,193 (GRCm39) |
D6E |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,189,473 (GRCm39) |
R421H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,696,935 (GRCm39) |
M62T |
probably damaging |
Het |
| Trhr |
T |
G |
15: 44,092,694 (GRCm39) |
Y310* |
probably null |
Het |
| Usp34 |
A |
G |
11: 23,331,353 (GRCm39) |
T1085A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,491 (GRCm39) |
H227Q |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,448,995 (GRCm39) |
M290K |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,841,291 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,925,546 (GRCm39) |
V1306D |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,741,001 (GRCm39) |
T191A |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,567 (GRCm39) |
E265G |
probably benign |
Het |
| Zcchc9 |
A |
G |
13: 91,948,816 (GRCm39) |
F41S |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,738,337 (GRCm39) |
H247R |
probably damaging |
Het |
| Zfp433 |
A |
G |
10: 81,555,957 (GRCm39) |
E152G |
probably damaging |
Het |
| Zfp770 |
A |
T |
2: 114,027,240 (GRCm39) |
S276R |
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 |
|
|
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'- CAGCCCAAAATTGCTCAAGTG -3'
(R):5'- GCAGCACAGAATCAGCTCAG -3'
Sequencing Primer
(F):5'- CCCAAAATTGCTCAAGTGGTGGATAC -3'
(R):5'- CATCAGTTACTTCAGTGCCAGGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation