Incidental Mutation 'R5966:Usf3'
| ID |
472128 |
| 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 |
044151-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5966 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44041222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1901
(I1901V)
|
| 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: I1901V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: I1901V
| 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: I1901V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: I1901V
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
94% (79/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
T |
10: 115,415,717 (GRCm39) |
|
probably benign |
Het |
| Acaa2 |
T |
C |
18: 74,937,223 (GRCm39) |
L369S |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,313,140 (GRCm39) |
S328P |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,719,546 (GRCm39) |
Y214C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,354,140 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,466,716 (GRCm39) |
T2160I |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,204,330 (GRCm39) |
S1251P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,573 (GRCm39) |
E488G |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,797,908 (GRCm39) |
I411F |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,297,595 (GRCm39) |
Q914* |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,566,083 (GRCm39) |
D827G |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,946,001 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,315,779 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,713,135 (GRCm39) |
D1509V |
probably damaging |
Het |
| Ddx51 |
A |
G |
5: 110,804,717 (GRCm39) |
D543G |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 87,222,261 (GRCm39) |
I408F |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,390,325 (GRCm39) |
P213L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,262 (GRCm39) |
T3327A |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,078,817 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,546,225 (GRCm39) |
E791G |
possibly damaging |
Het |
| Ehd3 |
G |
T |
17: 74,134,356 (GRCm39) |
W238C |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,134,361 (GRCm39) |
L240R |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,824,766 (GRCm39) |
V2357A |
unknown |
Het |
| Fam20c |
T |
C |
5: 138,741,932 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm4781 |
T |
C |
10: 100,232,814 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,058 (GRCm39) |
S827T |
unknown |
Het |
| Grm3 |
A |
T |
5: 9,561,930 (GRCm39) |
I640N |
probably damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,747 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
G |
T |
15: 97,700,372 (GRCm39) |
H572Q |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,313,735 (GRCm39) |
Q1389* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,893,152 (GRCm39) |
V2099A |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,888,531 (GRCm39) |
N443S |
possibly damaging |
Het |
| Impact |
A |
G |
18: 13,123,601 (GRCm39) |
K315E |
probably benign |
Het |
| Insr |
C |
A |
8: 3,308,697 (GRCm39) |
R113L |
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,260,954 (GRCm39) |
Y317N |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,122,411 (GRCm39) |
V162E |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,762 (GRCm39) |
V319A |
unknown |
Het |
| Lepr |
T |
C |
4: 101,649,324 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,137,938 (GRCm39) |
T647I |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,405,854 (GRCm39) |
R147Q |
probably benign |
Het |
| Mtr |
T |
C |
13: 12,230,453 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,652 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,471 (GRCm39) |
T362M |
possibly damaging |
Het |
| Or1j17 |
G |
T |
2: 36,578,074 (GRCm39) |
R20L |
probably null |
Het |
| Or1q1 |
T |
C |
2: 36,886,957 (GRCm39) |
I45T |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,222 (GRCm39) |
S276P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,601,630 (GRCm39) |
R131C |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,905,998 (GRCm39) |
V323A |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,295 (GRCm39) |
M134L |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,581,887 (GRCm39) |
T252M |
probably benign |
Het |
| Rnd3 |
T |
A |
2: 51,022,536 (GRCm39) |
I169F |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,444,689 (GRCm39) |
D219E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,315 (GRCm39) |
F491L |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,677,124 (GRCm39) |
C3242* |
probably null |
Het |
| Smurf2 |
G |
T |
11: 106,766,727 (GRCm39) |
R31S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,873 (GRCm39) |
I1333T |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,527,580 (GRCm39) |
C1279Y |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,753 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,929,636 (GRCm39) |
D301V |
probably benign |
Het |
| Tbcd |
G |
T |
11: 121,492,737 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,712 (GRCm39) |
I566T |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,374,921 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
T |
C |
17: 56,478,799 (GRCm39) |
F30L |
probably benign |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,433 (GRCm39) |
C118S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,408,959 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,906 (GRCm39) |
S395T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,754,827 (GRCm39) |
D178G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,112 (GRCm39) |
I116F |
probably benign |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,688 (GRCm39) |
R151H |
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 |
|
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'- CCCCAACTCGTGAAAGTGTTC -3'
(R):5'- TGGCGGATTTTGGAACCACTG -3'
Sequencing Primer
(F):5'- CCCAACTCGTGAAAGTGTTCATATC -3'
(R):5'- GGATTTTGGAACCACTGCTGTCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation