Incidental Mutation 'R7606:Usf3'
| ID |
588328 |
| 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 |
045676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R7606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44039306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1262
(T1262M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119746
AA Change: T1262M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: T1262M
| 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 damaging
Transcript: ENSMUST00000169582
AA Change: T1262M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: T1262M
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,943,456 (GRCm39) |
|
probably null |
Het |
| Adat1 |
T |
C |
8: 112,709,236 (GRCm39) |
K196E |
possibly damaging |
Het |
| Aire |
T |
C |
10: 77,873,767 (GRCm39) |
D314G |
probably damaging |
Het |
| Atp11a |
C |
T |
8: 12,894,427 (GRCm39) |
T674I |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,688,186 (GRCm39) |
D644G |
probably damaging |
Het |
| Bag4 |
A |
G |
8: 26,259,333 (GRCm39) |
S289P |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,994,358 (GRCm39) |
H46Q |
probably benign |
Het |
| Btg4 |
A |
G |
9: 51,029,307 (GRCm39) |
N164S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,951,626 (GRCm39) |
A2V |
probably benign |
Het |
| Cd209g |
T |
C |
8: 4,186,839 (GRCm39) |
L128P |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,493,571 (GRCm39) |
M1380K |
probably benign |
Het |
| Cpox |
T |
C |
16: 58,494,812 (GRCm39) |
V283A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,776 (GRCm39) |
D3504V |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,503,625 (GRCm39) |
I741F |
probably benign |
Het |
| Fam171a2 |
A |
G |
11: 102,335,002 (GRCm39) |
V45A |
possibly damaging |
Het |
| Fem1a |
A |
G |
17: 56,563,946 (GRCm39) |
D13G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,570,003 (GRCm39) |
I9T |
probably benign |
Het |
| Golt1b |
G |
A |
6: 142,338,068 (GRCm39) |
G13D |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,070,455 (GRCm39) |
N1653D |
probably benign |
Het |
| Hrg |
A |
G |
16: 22,769,873 (GRCm39) |
M1V |
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,391,995 (GRCm39) |
I356N |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,383,064 (GRCm39) |
E130G |
probably damaging |
Het |
| Kpna2 |
A |
T |
11: 106,882,884 (GRCm39) |
F124Y |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,060 (GRCm39) |
I824T |
probably damaging |
Het |
| Meis2 |
T |
C |
2: 115,893,801 (GRCm39) |
H38R |
possibly damaging |
Het |
| Mknk1 |
T |
G |
4: 115,735,191 (GRCm39) |
I353S |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,242,955 (GRCm39) |
I27N |
probably damaging |
Het |
| Mup4 |
T |
C |
4: 59,958,568 (GRCm39) |
T111A |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,116,456 (GRCm39) |
E994A |
|
Het |
| Nlrc5 |
T |
C |
8: 95,203,745 (GRCm39) |
M615T |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,852,441 (GRCm39) |
E218G |
possibly damaging |
Het |
| Or10g3b |
A |
T |
14: 52,587,420 (GRCm39) |
F28I |
probably benign |
Het |
| Or4c114 |
A |
G |
2: 88,905,641 (GRCm39) |
|
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,447,723 (GRCm39) |
D19G |
probably benign |
Het |
| Parp2 |
A |
T |
14: 51,057,487 (GRCm39) |
T429S |
probably damaging |
Het |
| Pcdhb6 |
G |
A |
18: 37,468,659 (GRCm39) |
E527K |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,982,715 (GRCm39) |
Y778C |
probably damaging |
Het |
| Pea15a |
T |
C |
1: 172,028,150 (GRCm39) |
|
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,967,683 (GRCm39) |
Y420H |
probably damaging |
Het |
| Ppp1ca |
C |
A |
19: 4,243,088 (GRCm39) |
S85R |
possibly damaging |
Het |
| Pth |
A |
C |
7: 112,985,450 (GRCm39) |
I13S |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,460,578 (GRCm39) |
T842A |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,419,806 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,276,314 (GRCm39) |
L323F |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,475,590 (GRCm39) |
Y4539* |
probably null |
Het |
| Scamp3 |
T |
A |
3: 89,088,525 (GRCm39) |
F244I |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,877,658 (GRCm39) |
D58G |
probably benign |
Het |
| Skor1 |
G |
T |
9: 63,052,664 (GRCm39) |
A435E |
probably damaging |
Het |
| Slc35a4 |
A |
G |
18: 36,815,638 (GRCm39) |
Y156C |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,607 (GRCm39) |
T158A |
possibly damaging |
Het |
| Srgap3 |
A |
C |
6: 112,716,337 (GRCm39) |
I621S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,066 (GRCm39) |
E581G |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,776,054 (GRCm39) |
T318I |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,914,704 (GRCm39) |
D316G |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,400,362 (GRCm39) |
E229V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,120 (GRCm39) |
E1288G |
probably benign |
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 |
|
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 |
|
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'- TGACAGTCGATAGGCCTCTTG -3'
(R):5'- CAGTGCTTCTGACGTTTGGC -3'
Sequencing Primer
(F):5'- CTTGAAAAACCAAGCTGTTCTCTGGG -3'
(R):5'- AAAGATCATCTTGCACAGTGC -3'
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| Posted On |
2019-10-24 |
Incidental Mutation