Incidental Mutation 'R5053:Usf3'
| ID |
394778 |
| 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 |
042643-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R5053 (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 44037550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 677
(S677P)
|
| 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: S677P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S677P
| 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: S677P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S677P
| 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: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,035,250 (GRCm39) |
I259F |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
| Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
| Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,248 (GRCm39) |
L200* |
probably null |
Het |
| As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
| Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
| Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
| Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
| Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
| Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
| Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
| Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
| Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,264,643 (GRCm39) |
L1191P |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
| Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
| Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
| Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
| Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
| Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
| Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,442 (GRCm39) |
H1736Q |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
| Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
| Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
| Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
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 |
|
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'- TCAATGGGGCCAGTGCTATAATAG -3'
(R):5'- CTGAGGATTAGCAGAGTGGC -3'
Sequencing Primer
(F):5'- GCCAGTGCTATAATAGGGTCTC -3'
(R):5'- AGTGGCTAATAGACAACTGTACAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation