Incidental Mutation 'R5598:Ubn2'
| ID |
437918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn2
|
| Ensembl Gene |
ENSMUSG00000038538 |
| Gene Name |
ubinuclein 2 |
| Synonyms |
2900060J04Rik, D130059P03Rik, 6030408G03Rik |
| MMRRC Submission |
043150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R5598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38410860-38489698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38467323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 677
(C677Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039127]
[ENSMUST00000160583]
[ENSMUST00000162593]
|
| AlphaFold |
Q80WC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039127
AA Change: C679Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: C679Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000159215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159447
|
| SMART Domains |
Protein: ENSMUSP00000123836
Gene: ENSMUSG00000038538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160583
AA Change: C677Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: C677Y
| 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: ENSMUST00000162423
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162593
AA Change: C526Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: C526Y
| 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: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,025,645 (GRCm39) |
D550G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,839,228 (GRCm39) |
T457A |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,935,221 (GRCm39) |
V359A |
probably damaging |
Het |
| Aqp2 |
G |
T |
15: 99,476,993 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
C |
T |
16: 29,075,829 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccr1l1 |
A |
G |
9: 123,778,030 (GRCm39) |
V139A |
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,708,407 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,310,119 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,856,032 (GRCm39) |
K741N |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,075 (GRCm39) |
T405S |
probably benign |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cmss1 |
C |
A |
16: 57,131,649 (GRCm39) |
C159F |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,916 (GRCm39) |
|
probably benign |
Het |
| Cradd |
G |
T |
10: 95,011,666 (GRCm39) |
S158* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,997,545 (GRCm39) |
A578T |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,318,315 (GRCm39) |
N419S |
possibly damaging |
Het |
| E4f1 |
T |
C |
17: 24,666,103 (GRCm39) |
T232A |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,171,956 (GRCm39) |
E2919V |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,586,309 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,143 (GRCm39) |
V173I |
probably benign |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,799,015 (GRCm39) |
P729S |
possibly damaging |
Het |
| Lgi1 |
A |
G |
19: 38,294,629 (GRCm39) |
D467G |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,219,650 (GRCm39) |
Y174H |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,475,592 (GRCm39) |
I824N |
probably damaging |
Het |
| Myrf |
C |
T |
19: 10,192,654 (GRCm39) |
E622K |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,457,051 (GRCm39) |
Y416H |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,248 (GRCm39) |
T132A |
probably benign |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,466 (GRCm39) |
P94S |
probably damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,941 (GRCm39) |
D307E |
probably benign |
Het |
| Or52s1b |
A |
T |
7: 102,822,841 (GRCm39) |
M1K |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,821 (GRCm39) |
R165S |
possibly damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,476 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pdia3 |
C |
A |
2: 121,244,611 (GRCm39) |
T8K |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,771,820 (GRCm39) |
V304E |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,007 (GRCm39) |
S835G |
possibly damaging |
Het |
| Susd4 |
T |
C |
1: 182,719,635 (GRCm39) |
S417P |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,523,578 (GRCm39) |
R127H |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,781,216 (GRCm39) |
D460G |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,826,234 (GRCm39) |
M148K |
probably damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,161 (GRCm39) |
I721T |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,855,454 (GRCm39) |
C720F |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,807,347 (GRCm39) |
D2742N |
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 |
|
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 |
|
R5937:Ubn2
|
UTSW |
6 |
38,440,917 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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'- TGCTTTAAAATAAAGGGCCCAGTAC -3'
(R):5'- ATACAAGATCCAGTGAGGCTG -3'
Sequencing Primer
(F):5'- GAGTTCAAGGTCAGCCTAGTCTAC -3'
(R):5'- CTGAGGGGAAAGAAAGGTCTTCATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation