Incidental Mutation 'R6338:Ubn2'
| ID |
514318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn2
|
| Ensembl Gene |
ENSMUSG00000038538 |
| Gene Name |
ubinuclein 2 |
| Synonyms |
2900060J04Rik, D130059P03Rik, 6030408G03Rik |
| MMRRC Submission |
044492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38410860-38489698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38467649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 788
(T788A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039127]
[ENSMUST00000160583]
[ENSMUST00000162593]
|
| AlphaFold |
Q80WC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039127
AA Change: T788A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: T788A
| 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: T786A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: T786A
| 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: T635A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: T635A
| 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: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
T |
C |
7: 97,906,922 (GRCm39) |
Y128C |
probably damaging |
Het |
| Adam30 |
T |
G |
3: 98,068,857 (GRCm39) |
I102S |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,792,466 (GRCm39) |
D163E |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,255,042 (GRCm39) |
E1614K |
probably benign |
Het |
| Aldh16a1 |
A |
T |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,687,490 (GRCm39) |
D238G |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,664,070 (GRCm39) |
S738G |
probably benign |
Het |
| Arid5b |
C |
A |
10: 67,934,391 (GRCm39) |
G504* |
probably null |
Het |
| Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,899,154 (GRCm39) |
D186V |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,930 (GRCm39) |
D882G |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,532,605 (GRCm39) |
V689A |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,100 (GRCm39) |
V174E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,982,492 (GRCm39) |
K2725T |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,896 (GRCm39) |
E55G |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,734,034 (GRCm39) |
R2027* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,930,484 (GRCm39) |
V476A |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,293 (GRCm39) |
D322E |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,274,489 (GRCm39) |
V466I |
probably benign |
Het |
| Gm20671 |
A |
T |
5: 32,977,991 (GRCm39) |
D1794E |
probably damaging |
Het |
| Gpatch2 |
G |
T |
1: 186,957,711 (GRCm39) |
R22L |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,465,880 (GRCm39) |
T450A |
probably benign |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Krit1 |
T |
G |
5: 3,886,857 (GRCm39) |
M702R |
probably benign |
Het |
| Krt34 |
T |
C |
11: 99,929,316 (GRCm39) |
N298S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,612,376 (GRCm39) |
N376K |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,959 (GRCm39) |
E573G |
probably damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,857 (GRCm39) |
F215I |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,834 (GRCm39) |
D111V |
probably damaging |
Het |
| Or1e31 |
A |
T |
11: 73,690,145 (GRCm39) |
L146Q |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,694 (GRCm39) |
S112G |
probably benign |
Het |
| Or4c119 |
T |
A |
2: 88,986,715 (GRCm39) |
K268I |
probably damaging |
Het |
| Or56b2 |
T |
A |
7: 104,337,378 (GRCm39) |
V52E |
possibly damaging |
Het |
| Phf20 |
A |
T |
2: 156,115,606 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,737,312 (GRCm39) |
V342A |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,630,505 (GRCm39) |
|
probably null |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,360 (GRCm39) |
E843G |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,062 (GRCm39) |
D632G |
probably damaging |
Het |
| Rnf149 |
A |
T |
1: 39,599,823 (GRCm39) |
C268S |
probably null |
Het |
| Slc6a13 |
T |
A |
6: 121,311,798 (GRCm39) |
F392I |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,338,492 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,232,581 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,527,966 (GRCm39) |
V1408I |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,241,229 (GRCm39) |
I183T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,205,475 (GRCm39) |
E3497G |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,706,361 (GRCm39) |
R121* |
probably null |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,643 (GRCm39) |
V110I |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,641,729 (GRCm39) |
I1255F |
probably damaging |
Het |
| Usp44 |
G |
T |
10: 93,682,375 (GRCm39) |
R275I |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,151,844 (GRCm39) |
N1015D |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly 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 |
|
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 |
|
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'- GATGACTCCCTCGATGAAGAC -3'
(R):5'- TGGCTTGACCTTTGCAGTCC -3'
Sequencing Primer
(F):5'- GATGACTCCCTCGATGAAGACCTTTC -3'
(R):5'- CTGGAGTAGCCTGGCTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation