Incidental Mutation 'R4924:Usf3'
| ID |
378905 |
| 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 |
042526-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R4924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44037718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 733
(S733P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088356]
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088356
|
| SMART Domains |
Protein: ENSMUSP00000085694
Gene: ENSMUSG00000068284
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
24 |
75 |
4.26e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119746
AA Change: S733P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S733P
| 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: S733P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S733P
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,902,351 (GRCm39) |
H625Y |
probably damaging |
Het |
| Adamts4 |
C |
T |
1: 171,086,643 (GRCm39) |
R812W |
probably damaging |
Het |
| Ajuba |
A |
C |
14: 54,809,056 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,344,503 (GRCm39) |
V532D |
probably damaging |
Het |
| Arpc1b |
G |
A |
5: 145,063,625 (GRCm39) |
S295N |
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,887,850 (GRCm39) |
S335G |
probably damaging |
Het |
| Brap |
T |
G |
5: 121,803,318 (GRCm39) |
N155K |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,396 (GRCm39) |
|
probably benign |
Het |
| Ccl12 |
G |
A |
11: 81,993,475 (GRCm39) |
V38I |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,602,146 (GRCm39) |
Y881C |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 90,989,174 (GRCm39) |
|
silent |
Het |
| Chd5 |
A |
C |
4: 152,450,886 (GRCm39) |
D670A |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 117,983,994 (GRCm39) |
Y52H |
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,855,399 (GRCm39) |
I30T |
probably benign |
Het |
| Dscaml1 |
T |
A |
9: 45,656,487 (GRCm39) |
M1609K |
probably damaging |
Het |
| Edar |
C |
A |
10: 58,465,197 (GRCm39) |
E55D |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,734 (GRCm39) |
I601N |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,055,572 (GRCm39) |
N705K |
probably benign |
Het |
| Gm21718 |
G |
T |
14: 51,550,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaz |
A |
G |
10: 74,827,545 (GRCm39) |
D99G |
probably benign |
Het |
| Helz |
G |
A |
11: 107,493,165 (GRCm39) |
G196D |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,331 (GRCm39) |
S341P |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,311,792 (GRCm39) |
S1344I |
probably benign |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Ift81 |
A |
G |
5: 122,732,679 (GRCm39) |
L285S |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,849,253 (GRCm39) |
N891K |
probably damaging |
Het |
| Irx6 |
C |
T |
8: 93,404,981 (GRCm39) |
T283M |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,559,089 (GRCm39) |
K1538E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 47,083,075 (GRCm39) |
V8A |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,036 (GRCm39) |
N34K |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 27,245,137 (GRCm39) |
I215L |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,900,328 (GRCm39) |
R58H |
possibly damaging |
Het |
| Lvrn |
C |
T |
18: 47,027,792 (GRCm39) |
P869L |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,565,504 (GRCm39) |
F411S |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,828,455 (GRCm39) |
H702Q |
probably benign |
Het |
| Nat8f4 |
G |
T |
6: 85,878,401 (GRCm39) |
Q41K |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,765 (GRCm39) |
E596* |
probably null |
Het |
| Nek10 |
T |
A |
14: 14,846,594 (GRCm38) |
|
probably null |
Het |
| Notch3 |
T |
C |
17: 32,363,705 (GRCm39) |
Y1145C |
probably damaging |
Het |
| Nr4a2 |
A |
T |
2: 57,002,035 (GRCm39) |
H76Q |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,784,185 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Or4k48 |
A |
T |
2: 111,476,121 (GRCm39) |
S74T |
possibly damaging |
Het |
| Or5k1b |
T |
A |
16: 58,580,982 (GRCm39) |
R186* |
probably null |
Het |
| Or8k33 |
A |
T |
2: 86,383,853 (GRCm39) |
F205Y |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,720,409 (GRCm39) |
Y231H |
probably benign |
Het |
| Plagl1 |
G |
T |
10: 13,003,301 (GRCm39) |
A190S |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,268,269 (GRCm39) |
I345N |
probably damaging |
Het |
| Pnmt |
A |
G |
11: 98,278,286 (GRCm39) |
E120G |
probably damaging |
Het |
| Prkrip1 |
C |
A |
5: 136,227,797 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,754 (GRCm39) |
A572T |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,807,400 (GRCm39) |
F39L |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,268 (GRCm39) |
H388R |
probably benign |
Het |
| Scn4a |
G |
T |
11: 106,210,914 (GRCm39) |
A1701E |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,748,584 (GRCm39) |
W616L |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,357,729 (GRCm39) |
S218T |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,309,297 (GRCm39) |
R87H |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,785,998 (GRCm39) |
L284M |
probably damaging |
Het |
| Smok3c |
G |
T |
5: 138,063,844 (GRCm39) |
E444* |
probably null |
Het |
| Snx4 |
T |
C |
16: 33,115,100 (GRCm39) |
V427A |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,151,684 (GRCm39) |
V304E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,678,808 (GRCm39) |
H243L |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,049,737 (GRCm39) |
V14A |
probably damaging |
Het |
| Sv2b |
T |
A |
7: 74,786,169 (GRCm39) |
Y417F |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,161 (GRCm39) |
Y302H |
probably benign |
Het |
| Thop1 |
T |
C |
10: 80,916,028 (GRCm39) |
S404P |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,051,701 (GRCm39) |
C988* |
probably null |
Het |
| Tsbp1 |
C |
T |
17: 34,678,951 (GRCm39) |
P221L |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,836,269 (GRCm39) |
E630G |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,189 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,882 (GRCm39) |
H32L |
probably benign |
Het |
| Wnt2 |
A |
G |
6: 18,023,239 (GRCm39) |
C137R |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,980,871 (GRCm39) |
S489P |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,033 (GRCm39) |
C418R |
probably damaging |
Het |
| Zfp946 |
T |
G |
17: 22,674,502 (GRCm39) |
F419V |
probably damaging |
Het |
| Zfp994 |
C |
T |
17: 22,419,738 (GRCm39) |
E404K |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,347 (GRCm39) |
V304A |
possibly 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 |
|
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'- GCTTTGCAGCCTGTGATGTC -3'
(R):5'- AGTGTTTCTTGGCACCTGGC -3'
Sequencing Primer
(F):5'- TCCTCATCAGGAACTACAAATCAAAG -3'
(R):5'- TTTGATTTCATGGTAGAGGGCAAAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation