Incidental Mutation 'R6362:Usf3'
| ID |
512549 |
| 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 |
044512-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R6362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44038940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1140
(D1140G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119746
AA Change: D1140G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: D1140G
| 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 |
noncoding transcript
Transcript: ENSMUST00000141015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169582
AA Change: D1140G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: D1140G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh5a1 |
T |
G |
13: 25,102,533 (GRCm39) |
D310A |
probably benign |
Het |
| Als2cl |
T |
A |
9: 110,724,514 (GRCm39) |
|
probably null |
Het |
| Amacr |
C |
A |
15: 10,984,891 (GRCm39) |
R170S |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,803,507 (GRCm39) |
R2221Q |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,330,533 (GRCm39) |
|
probably null |
Het |
| Cd3d |
G |
A |
9: 44,897,589 (GRCm39) |
D157N |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,955,516 (GRCm39) |
D1043G |
probably damaging |
Het |
| Cimip1 |
T |
G |
2: 173,369,967 (GRCm39) |
|
probably null |
Het |
| Cit |
A |
G |
5: 116,024,735 (GRCm39) |
D326G |
probably benign |
Het |
| Col16a1 |
G |
C |
4: 129,959,983 (GRCm39) |
G370R |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,738,285 (GRCm39) |
Y1078F |
probably damaging |
Het |
| Colgalt2 |
A |
C |
1: 152,347,549 (GRCm39) |
Y161S |
probably damaging |
Het |
| Cyp2j13 |
A |
G |
4: 95,959,932 (GRCm39) |
Y75H |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,130,338 (GRCm39) |
V118I |
probably damaging |
Het |
| Dennd5a |
G |
T |
7: 109,533,472 (GRCm39) |
C75* |
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,009,566 (GRCm39) |
L1071P |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,338,765 (GRCm39) |
L802P |
possibly damaging |
Het |
| Dmc1 |
A |
G |
15: 79,473,024 (GRCm39) |
V141A |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,520 (GRCm39) |
Y45* |
probably null |
Het |
| Dspp |
A |
G |
5: 104,323,900 (GRCm39) |
I348V |
probably benign |
Het |
| Epb42 |
C |
A |
2: 120,856,260 (GRCm39) |
C428F |
possibly damaging |
Het |
| Fam227a |
G |
T |
15: 79,527,551 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,890,170 (GRCm39) |
V252I |
probably benign |
Het |
| Fhod1 |
C |
A |
8: 106,058,273 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
G |
T |
18: 24,887,312 (GRCm39) |
A68S |
probably benign |
Het |
| Gatm |
T |
C |
2: 122,428,677 (GRCm39) |
D328G |
probably benign |
Het |
| Gm6401 |
G |
T |
14: 41,789,727 (GRCm39) |
H44N |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr84 |
G |
A |
15: 103,216,937 (GRCm39) |
A380V |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,379,190 (GRCm39) |
W3492L |
probably damaging |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Jag2 |
T |
A |
12: 112,883,742 (GRCm39) |
K246N |
probably damaging |
Het |
| Klhl32 |
T |
C |
4: 24,629,195 (GRCm39) |
D524G |
probably null |
Het |
| Lax1 |
A |
G |
1: 133,608,334 (GRCm39) |
S136P |
possibly damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,725 (GRCm39) |
K217E |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,314,430 (GRCm39) |
L169P |
probably damaging |
Het |
| Lrrc37 |
G |
C |
11: 103,511,478 (GRCm39) |
N163K |
unknown |
Het |
| Mad1l1 |
A |
T |
5: 140,300,810 (GRCm39) |
S29T |
possibly damaging |
Het |
| Man1a |
T |
C |
10: 53,950,891 (GRCm39) |
H77R |
probably benign |
Het |
| Met |
C |
T |
6: 17,558,732 (GRCm39) |
S1120F |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,605 (GRCm39) |
I250N |
probably damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,305 (GRCm39) |
H70R |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,102,704 (GRCm39) |
N4280S |
probably benign |
Het |
| Nudt6 |
T |
C |
3: 37,473,638 (GRCm39) |
T28A |
possibly damaging |
Het |
| Nup85 |
A |
G |
11: 115,474,560 (GRCm39) |
E628G |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,295 (GRCm39) |
D120E |
probably damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,620 (GRCm39) |
M83K |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,040,709 (GRCm39) |
|
probably benign |
Het |
| Or5be3 |
C |
T |
2: 86,863,633 (GRCm39) |
A311T |
probably benign |
Het |
| Or5m8 |
C |
A |
2: 85,822,285 (GRCm39) |
N41K |
probably damaging |
Het |
| Or6c1b |
A |
C |
10: 129,272,812 (GRCm39) |
I44L |
probably damaging |
Het |
| Osbpl8 |
A |
T |
10: 111,108,929 (GRCm39) |
K404* |
probably null |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,958 (GRCm39) |
N601D |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,445,501 (GRCm39) |
Y638H |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,435 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prickle2 |
C |
G |
6: 92,435,596 (GRCm39) |
V2L |
possibly damaging |
Het |
| Psmd6 |
G |
A |
14: 14,116,949 (GRCm38) |
R125C |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,259,093 (GRCm39) |
V24I |
probably benign |
Het |
| Rusc2 |
A |
T |
4: 43,416,416 (GRCm39) |
D574V |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,837,996 (GRCm39) |
|
probably null |
Het |
| Sec11a |
T |
C |
7: 80,572,879 (GRCm39) |
E134G |
probably benign |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,051,120 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
T |
C |
2: 84,690,128 (GRCm39) |
L435P |
probably damaging |
Het |
| Spn |
G |
A |
7: 126,735,895 (GRCm39) |
P204L |
possibly damaging |
Het |
| Srr |
T |
A |
11: 74,801,028 (GRCm39) |
Q173L |
probably damaging |
Het |
| Star |
C |
G |
8: 26,301,835 (GRCm39) |
T222S |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,301,953 (GRCm39) |
Y93N |
probably damaging |
Het |
| Tmc4 |
G |
T |
7: 3,678,458 (GRCm39) |
Q58K |
probably benign |
Het |
| Tmem86b |
C |
T |
7: 4,632,835 (GRCm39) |
M1I |
probably null |
Het |
| Tmtc2 |
A |
T |
10: 105,205,831 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,913,362 (GRCm39) |
Y1792F |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,296,867 (GRCm39) |
R443W |
possibly damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,323 (GRCm39) |
V253E |
possibly damaging |
Het |
| Usp10 |
T |
C |
8: 120,668,055 (GRCm39) |
S118P |
probably benign |
Het |
| Vmn2r63 |
C |
T |
7: 42,552,721 (GRCm39) |
C845Y |
probably benign |
Het |
| Vmn2r72 |
G |
T |
7: 85,400,382 (GRCm39) |
F222L |
probably damaging |
Het |
| Zfp654 |
G |
A |
16: 64,606,457 (GRCm39) |
Q582* |
probably null |
Het |
| Zfp791 |
C |
T |
8: 85,846,279 (GRCm39) |
|
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,729,302 (GRCm39) |
D32V |
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 |
|
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'- GGGTCTTTGCTCACCAGTAG -3'
(R):5'- GAGGCCTATCGACTGTCACTTC -3'
Sequencing Primer
(F):5'- TTTGCTCACCAGTAGACAGG -3'
(R):5'- TGTCACTTCCACAGAATCCTGAGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation