Incidental Mutation 'R5937:Ubn2'
| ID |
462319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn2
|
| Ensembl Gene |
ENSMUSG00000038538 |
| Gene Name |
ubinuclein 2 |
| Synonyms |
2900060J04Rik, D130059P03Rik, 6030408G03Rik |
| MMRRC Submission |
043242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R5937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38410860-38489698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38440917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 263
(V263E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039127]
[ENSMUST00000160583]
[ENSMUST00000162593]
|
| AlphaFold |
Q80WC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039127
AA Change: V431E
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: V431E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
109 |
N/A |
INTRINSIC |
|
Pfam:HUN
|
180 |
231 |
4.8e-22 |
PFAM |
|
low complexity region
|
256 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
434 |
650 |
6.4e-80 |
PFAM |
|
low complexity region
|
687 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1156 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1199 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160583
AA Change: V431E
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: V431E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
109 |
N/A |
INTRINSIC |
|
Pfam:HUN
|
178 |
232 |
3.8e-23 |
PFAM |
|
low complexity region
|
256 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
434 |
650 |
2.9e-86 |
PFAM |
|
low complexity region
|
685 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162026
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162593
AA Change: V263E
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: V263E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HUN
|
10 |
64 |
4.4e-24 |
PFAM |
|
low complexity region
|
88 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
231 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
266 |
482 |
3.1e-87 |
PFAM |
|
low complexity region
|
534 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1039 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
| Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
| Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
| Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
| Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
| Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
| Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
| Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
| Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
| Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
| Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
probably damaging |
Het |
|
| Other mutations in Ubn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Ubn2
|
APN |
6 |
38,459,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03116:Ubn2
|
APN |
6 |
38,468,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03150:Ubn2
|
APN |
6 |
38,440,649 (GRCm39) |
missense |
probably benign |
|
|
IGL03382:Ubn2
|
APN |
6 |
38,417,382 (GRCm39) |
unclassified |
probably benign |
|
|
A4554:Ubn2
|
UTSW |
6 |
38,461,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Ubn2
|
UTSW |
6 |
38,411,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0034:Ubn2
|
UTSW |
6 |
38,468,341 (GRCm39) |
synonymous |
silent |
|
|
R0121:Ubn2
|
UTSW |
6 |
38,429,793 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Ubn2
|
UTSW |
6 |
38,459,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1864:Ubn2
|
UTSW |
6 |
38,417,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1865:Ubn2
|
UTSW |
6 |
38,417,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1892:Ubn2
|
UTSW |
6 |
38,468,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Ubn2
|
UTSW |
6 |
38,447,076 (GRCm39) |
splice site |
probably null |
|
|
R2184:Ubn2
|
UTSW |
6 |
38,461,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Ubn2
|
UTSW |
6 |
38,475,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2442:Ubn2
|
UTSW |
6 |
38,467,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3413:Ubn2
|
UTSW |
6 |
38,475,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4725:Ubn2
|
UTSW |
6 |
38,499,240 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4765:Ubn2
|
UTSW |
6 |
38,456,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Ubn2
|
UTSW |
6 |
38,464,088 (GRCm39) |
splice site |
probably null |
|
|
R4812:Ubn2
|
UTSW |
6 |
38,440,661 (GRCm39) |
missense |
probably benign |
|
|
R4934:Ubn2
|
UTSW |
6 |
38,467,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5580:Ubn2
|
UTSW |
6 |
38,460,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5598:Ubn2
|
UTSW |
6 |
38,467,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5672:Ubn2
|
UTSW |
6 |
38,438,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Ubn2
|
UTSW |
6 |
38,438,412 (GRCm39) |
nonsense |
probably null |
|
|
R5817:Ubn2
|
UTSW |
6 |
38,456,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Ubn2
|
UTSW |
6 |
38,468,423 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6033:Ubn2
|
UTSW |
6 |
38,447,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6033:Ubn2
|
UTSW |
6 |
38,447,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6174:Ubn2
|
UTSW |
6 |
38,438,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Ubn2
|
UTSW |
6 |
38,467,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Ubn2
|
UTSW |
6 |
38,411,397 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7282:Ubn2
|
UTSW |
6 |
38,429,811 (GRCm39) |
nonsense |
probably null |
|
|
R7685:Ubn2
|
UTSW |
6 |
38,468,727 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7727:Ubn2
|
UTSW |
6 |
38,440,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7777:Ubn2
|
UTSW |
6 |
38,467,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Ubn2
|
UTSW |
6 |
38,417,475 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8218:Ubn2
|
UTSW |
6 |
38,466,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8283:Ubn2
|
UTSW |
6 |
38,475,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Ubn2
|
UTSW |
6 |
38,460,079 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9781:Ubn2
|
UTSW |
6 |
38,466,190 (GRCm39) |
missense |
probably benign |
|
|
RF024:Ubn2
|
UTSW |
6 |
38,440,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Ubn2
|
UTSW |
6 |
38,460,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCTGAACAGTGCTGACC -3'
(R):5'- AGCCAGCATCTAAAACAGATTATGG -3'
Sequencing Primer
(F):5'- TCTGAACAGTGCTGACCCAGAC -3'
(R):5'- TTATGGAAAACAGCAAGTTGAGACTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation