Incidental Mutation 'R4895:Usf3'
ID |
377595 |
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 |
042499-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R4895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 44041459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1980
(S1980R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
AlphaFold |
B2RUQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119746
AA Change: S1980R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112620 Gene: ENSMUSG00000068284 AA Change: S1980R
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 |
possibly damaging
Transcript: ENSMUST00000169582
AA Change: S1980R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128627 Gene: ENSMUSG00000068284 AA Change: S1980R
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 |
0.0761 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (84/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
C |
A |
2: 154,454,990 (GRCm39) |
|
probably benign |
Het |
Abat |
G |
A |
16: 8,433,826 (GRCm39) |
A392T |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,846,572 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
T |
7: 45,630,414 (GRCm39) |
L1282Q |
possibly damaging |
Het |
Acss2 |
A |
G |
2: 155,392,401 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
G |
T |
17: 43,621,511 (GRCm39) |
V583L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,646,801 (GRCm39) |
D825G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,994,805 (GRCm39) |
V5363A |
probably benign |
Het |
Apba3 |
G |
A |
10: 81,107,117 (GRCm39) |
|
probably null |
Het |
Asb13 |
T |
C |
13: 3,693,589 (GRCm39) |
Y116H |
probably damaging |
Het |
Asb4 |
C |
A |
6: 5,398,266 (GRCm39) |
T77K |
probably damaging |
Het |
Atp8b4 |
A |
T |
2: 126,256,289 (GRCm39) |
H223Q |
probably benign |
Het |
Best1 |
A |
G |
19: 9,970,135 (GRCm39) |
L159P |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,608,396 (GRCm39) |
M731K |
probably damaging |
Het |
Catspere1 |
T |
A |
1: 177,687,427 (GRCm39) |
|
noncoding transcript |
Het |
Cenpv |
A |
T |
11: 62,418,346 (GRCm39) |
Y202* |
probably null |
Het |
Cep57 |
A |
T |
9: 13,727,449 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,084 (GRCm39) |
D363V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,558,231 (GRCm39) |
Y1126C |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,347 (GRCm39) |
|
probably null |
Het |
Dnajc11 |
T |
C |
4: 152,064,390 (GRCm39) |
F514L |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,611,112 (GRCm39) |
T318I |
probably benign |
Het |
Efcab3 |
T |
A |
11: 105,008,227 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,640,496 (GRCm39) |
D1026G |
probably damaging |
Het |
Eif2b4 |
T |
G |
5: 31,350,298 (GRCm39) |
Q8P |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,486,918 (GRCm39) |
V1043E |
probably benign |
Het |
Gm11562 |
G |
T |
11: 99,511,141 (GRCm39) |
Q20K |
unknown |
Het |
Gm14415 |
A |
T |
2: 176,796,114 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
G |
11: 48,779,855 (GRCm39) |
S634P |
probably damaging |
Het |
Gpld1 |
C |
A |
13: 25,163,711 (GRCm39) |
N501K |
probably damaging |
Het |
Gsn |
C |
T |
2: 35,192,590 (GRCm39) |
R513C |
probably damaging |
Het |
Gulp1 |
T |
C |
1: 44,827,757 (GRCm39) |
F300L |
probably benign |
Het |
H2aj |
T |
C |
6: 136,785,660 (GRCm39) |
V108A |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,325,414 (GRCm39) |
R82G |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,872,734 (GRCm39) |
R4424H |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,553,130 (GRCm39) |
Q2520L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,171,014 (GRCm39) |
I53V |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,287,924 (GRCm39) |
R624Q |
probably damaging |
Het |
Ints8 |
G |
T |
4: 11,230,367 (GRCm39) |
C491* |
probably null |
Het |
Itpkb |
C |
A |
1: 180,241,460 (GRCm39) |
A710D |
probably damaging |
Het |
Kcnk4 |
A |
C |
19: 6,905,784 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,742,368 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
C |
T |
1: 193,014,622 (GRCm39) |
R594* |
probably null |
Het |
Map3k20 |
A |
G |
2: 72,232,700 (GRCm39) |
|
probably benign |
Het |
Maz |
A |
T |
7: 126,624,472 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,332,062 (GRCm39) |
E2252G |
probably damaging |
Het |
Ndufa10 |
A |
G |
1: 92,397,618 (GRCm39) |
Y61H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,789 (GRCm39) |
L1166M |
probably damaging |
Het |
Or12e1 |
A |
C |
2: 87,022,192 (GRCm39) |
I54L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,804,055 (GRCm39) |
F60Y |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,341 (GRCm39) |
*310K |
probably null |
Het |
Or5b97 |
C |
T |
19: 12,878,251 (GRCm39) |
V298M |
probably damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,020 (GRCm39) |
C141Y |
probably benign |
Het |
Or5p66 |
A |
C |
7: 107,885,802 (GRCm39) |
I177S |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,759 (GRCm39) |
F242L |
probably damaging |
Het |
Phip |
A |
G |
9: 82,841,648 (GRCm39) |
V57A |
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,788,626 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
C |
6: 25,753,205 (GRCm39) |
F444V |
probably damaging |
Het |
Ppm1a |
C |
T |
12: 72,831,126 (GRCm39) |
P217L |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,388,494 (GRCm39) |
F203S |
probably damaging |
Het |
Prl8a1 |
T |
C |
13: 27,759,513 (GRCm39) |
I175V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,175 (GRCm39) |
I1059N |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,122,242 (GRCm39) |
Q59R |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,651 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,542,656 (GRCm39) |
D902G |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,019,220 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
T |
9: 37,566,375 (GRCm39) |
I54N |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,993 (GRCm39) |
E811V |
unknown |
Het |
Tenm3 |
T |
A |
8: 48,754,006 (GRCm39) |
D799V |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,764 (GRCm39) |
L342P |
probably damaging |
Het |
Tppp |
C |
T |
13: 74,178,996 (GRCm39) |
R146* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,967,482 (GRCm39) |
M574K |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,195,345 (GRCm39) |
F1288Y |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,256,298 (GRCm39) |
K1124N |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,208,973 (GRCm39) |
D100G |
probably damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,167,182 (GRCm39) |
H650N |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,218 (GRCm39) |
Y398F |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,187,396 (GRCm39) |
D1142G |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,892 (GRCm39) |
R235* |
probably null |
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 |
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 |
R7452:Usf3
|
UTSW |
16 |
44,040,397 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ACATCCAACATGCATGGGG -3'
(R):5'- TGCCACCCTCAGGAATAAAAGG -3'
Sequencing Primer
(F):5'- GTTGCAAGGCCAACTTTGC -3'
(R):5'- CCGAAATTTTGTGACAGTGAATGCTG -3'
|
Posted On |
2016-03-17 |