Incidental Mutation 'R7452:Usf3'
| ID |
577830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usf3
|
| Ensembl Gene |
ENSMUSG00000068284 |
| Gene Name |
upstream transcription factor family member 3 |
| Synonyms |
LOC207806, 5530400K22Rik, Gm608, LOC385650 |
| MMRRC Submission |
045526-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R7452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44040397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1626
(S1626P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119746
AA Change: S1626P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S1626P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
24 |
75 |
4.26e-9 |
SMART |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1437 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169582
AA Change: S1626P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S1626P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
24 |
75 |
4.26e-9 |
SMART |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1437 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1555 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,618,291 (GRCm39) |
Q195K |
probably damaging |
Het |
| Abcg4 |
C |
T |
9: 44,190,897 (GRCm39) |
G249R |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,230,376 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,674,869 (GRCm39) |
T432S |
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,506 (GRCm39) |
T347A |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,050,735 (GRCm39) |
D432G |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,734,881 (GRCm39) |
T797A |
possibly damaging |
Het |
| Aoc1 |
T |
G |
6: 48,885,724 (GRCm39) |
V743G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,833,892 (GRCm39) |
S858R |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,480,438 (GRCm39) |
V162G |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,140,814 (GRCm39) |
D588G |
possibly damaging |
Het |
| Art3 |
A |
G |
5: 92,540,539 (GRCm39) |
Y94C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,946,527 (GRCm39) |
D444E |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,282,075 (GRCm39) |
H111R |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,717,596 (GRCm39) |
L469P |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,406 (GRCm39) |
E802V |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,452,981 (GRCm39) |
D574G |
probably damaging |
Het |
| Chd7 |
A |
C |
4: 8,854,731 (GRCm39) |
D2024A |
probably benign |
Het |
| Corin |
T |
A |
5: 72,592,590 (GRCm39) |
D269V |
possibly damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,795 (GRCm39) |
I359F |
probably damaging |
Het |
| Defb6 |
T |
C |
8: 19,275,540 (GRCm39) |
L7P |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,196 (GRCm39) |
M1817L |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,866,664 (GRCm39) |
F682S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,065,052 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Enpp2 |
T |
C |
15: 54,730,132 (GRCm39) |
N462S |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,107 (GRCm39) |
|
probably null |
Het |
| F7 |
C |
T |
8: 13,085,215 (GRCm39) |
H414Y |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,347,375 (GRCm39) |
H50R |
possibly damaging |
Het |
| Fig4 |
T |
C |
10: 41,116,633 (GRCm39) |
D586G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,181,331 (GRCm39) |
L2825P |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,800,240 (GRCm39) |
H30Q |
possibly damaging |
Het |
| Garre1 |
A |
G |
7: 33,945,096 (GRCm39) |
S595P |
probably benign |
Het |
| Gm12886 |
G |
A |
4: 121,274,671 (GRCm39) |
Q70* |
probably null |
Het |
| Gm8104 |
A |
C |
14: 42,967,501 (GRCm39) |
T190P |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,592 (GRCm39) |
N749K |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,808,926 (GRCm39) |
T1101A |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,423,074 (GRCm39) |
S210T |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,901,615 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
A |
G |
7: 80,410,577 (GRCm39) |
V212A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,243,607 (GRCm39) |
E448G |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,686 (GRCm39) |
C1221R |
probably damaging |
Het |
| Lrrc72 |
T |
C |
12: 36,262,692 (GRCm39) |
Y52C |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,030 (GRCm39) |
I3617T |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,379,705 (GRCm39) |
H98Q |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,384,733 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,517,056 (GRCm39) |
I458L |
probably benign |
Het |
| Nfam1 |
T |
A |
15: 82,899,163 (GRCm39) |
M128L |
probably benign |
Het |
| Or2y13 |
C |
A |
11: 49,415,208 (GRCm39) |
H219Q |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,266 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5p75-ps1 |
C |
T |
7: 108,107,800 (GRCm39) |
T179I |
unknown |
Het |
| Or8b50 |
A |
T |
9: 38,518,384 (GRCm39) |
I208F |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,023,466 (GRCm39) |
G7D |
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,966,758 (GRCm39) |
Y564H |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,058,467 (GRCm39) |
V262I |
probably benign |
Het |
| Poli |
A |
G |
18: 70,642,049 (GRCm39) |
V717A |
possibly damaging |
Het |
| Prdm14 |
A |
T |
1: 13,195,783 (GRCm39) |
W93R |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,428 (GRCm39) |
M396V |
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,248,587 (GRCm39) |
V212A |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skp2 |
T |
A |
15: 9,113,920 (GRCm39) |
Q366L |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,269,034 (GRCm39) |
S312T |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,142 (GRCm39) |
L255P |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,155,585 (GRCm39) |
E458G |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,797,461 (GRCm39) |
D311V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,630,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,731,792 (GRCm39) |
I47F |
|
Het |
| Trp53bp2 |
C |
T |
1: 182,274,133 (GRCm39) |
Q95* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,707,487 (GRCm39) |
|
probably null |
Het |
| Usp3 |
T |
C |
9: 66,474,180 (GRCm39) |
R33G |
probably benign |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
|
| Other mutations in Usf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Usf3
|
APN |
16 |
44,033,000 (GRCm39) |
splice site |
probably null |
|
|
IGL01971:Usf3
|
APN |
16 |
44,037,809 (GRCm39) |
splice site |
probably null |
|
|
IGL01982:Usf3
|
APN |
16 |
44,039,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02124:Usf3
|
APN |
16 |
44,040,019 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02309:Usf3
|
APN |
16 |
44,021,026 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02454:Usf3
|
APN |
16 |
44,037,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Usf3
|
APN |
16 |
44,040,674 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02671:Usf3
|
APN |
16 |
44,042,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Usf3
|
APN |
16 |
44,039,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02899:Usf3
|
APN |
16 |
44,041,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Usf3
|
APN |
16 |
44,036,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Usf3
|
UTSW |
16 |
44,040,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Usf3
|
UTSW |
16 |
44,037,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0900:Usf3
|
UTSW |
16 |
44,036,321 (GRCm39) |
missense |
probably benign |
|
|
R1160:Usf3
|
UTSW |
16 |
44,038,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Usf3
|
UTSW |
16 |
44,037,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1512:Usf3
|
UTSW |
16 |
44,041,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Usf3
|
UTSW |
16 |
44,038,535 (GRCm39) |
missense |
probably benign |
|
|
R1702:Usf3
|
UTSW |
16 |
44,039,995 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Usf3
|
UTSW |
16 |
44,036,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2344:Usf3
|
UTSW |
16 |
44,036,414 (GRCm39) |
missense |
probably benign |
|
|
R2400:Usf3
|
UTSW |
16 |
44,036,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2484:Usf3
|
UTSW |
16 |
44,041,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2570:Usf3
|
UTSW |
16 |
44,036,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3730:Usf3
|
UTSW |
16 |
44,038,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4024:Usf3
|
UTSW |
16 |
44,036,528 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4451:Usf3
|
UTSW |
16 |
44,038,251 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4883:Usf3
|
UTSW |
16 |
44,039,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Usf3
|
UTSW |
16 |
44,041,459 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4924:Usf3
|
UTSW |
16 |
44,037,718 (GRCm39) |
missense |
probably benign |
|
|
R5020:Usf3
|
UTSW |
16 |
44,035,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Usf3
|
UTSW |
16 |
44,036,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Usf3
|
UTSW |
16 |
44,037,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5058:Usf3
|
UTSW |
16 |
44,033,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Usf3
|
UTSW |
16 |
44,038,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Usf3
|
UTSW |
16 |
44,037,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5407:Usf3
|
UTSW |
16 |
44,037,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5536:Usf3
|
UTSW |
16 |
44,037,733 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5805:Usf3
|
UTSW |
16 |
44,041,109 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5966:Usf3
|
UTSW |
16 |
44,041,222 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6024:Usf3
|
UTSW |
16 |
44,040,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Usf3
|
UTSW |
16 |
44,037,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6180:Usf3
|
UTSW |
16 |
44,041,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Usf3
|
UTSW |
16 |
44,038,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6579:Usf3
|
UTSW |
16 |
44,039,197 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6874:Usf3
|
UTSW |
16 |
44,040,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7226:Usf3
|
UTSW |
16 |
44,040,368 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7379:Usf3
|
UTSW |
16 |
44,040,939 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7389:Usf3
|
UTSW |
16 |
44,038,304 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7606:Usf3
|
UTSW |
16 |
44,039,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Usf3
|
UTSW |
16 |
44,040,884 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7765:Usf3
|
UTSW |
16 |
44,039,426 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7830:Usf3
|
UTSW |
16 |
44,040,142 (GRCm39) |
nonsense |
probably null |
|
|
R7895:Usf3
|
UTSW |
16 |
44,036,565 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7941:Usf3
|
UTSW |
16 |
44,035,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8280:Usf3
|
UTSW |
16 |
44,038,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8285:Usf3
|
UTSW |
16 |
44,041,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Usf3
|
UTSW |
16 |
44,037,572 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8692:Usf3
|
UTSW |
16 |
44,040,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Usf3
|
UTSW |
16 |
44,040,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8824:Usf3
|
UTSW |
16 |
44,035,976 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9123:Usf3
|
UTSW |
16 |
44,041,030 (GRCm39) |
missense |
probably benign |
|
|
R9266:Usf3
|
UTSW |
16 |
44,040,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9335:Usf3
|
UTSW |
16 |
44,041,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Usf3
|
UTSW |
16 |
44,036,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9643:Usf3
|
UTSW |
16 |
44,042,170 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9780:Usf3
|
UTSW |
16 |
44,039,181 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9785:Usf3
|
UTSW |
16 |
44,041,970 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0057:Usf3
|
UTSW |
16 |
44,041,147 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0066:Usf3
|
UTSW |
16 |
44,040,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Usf3
|
UTSW |
16 |
44,040,794 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTTCAACTAACCGGGG -3'
(R):5'- ACAGTATGATCCATGCGGC -3'
Sequencing Primer
(F):5'- TAACCGGGGCCACCATAG -3'
(R):5'- CATGCGGCCCTGCATATTATGAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation