Incidental Mutation 'R9643:Usf3'
| ID |
726688 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R9643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44042170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 2217
(C2217S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119746
AA Change: C2217S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: C2217S
| 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 |
possibly damaging
Transcript: ENSMUST00000169582
AA Change: C2217S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: C2217S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,211,189 (GRCm39) |
D641G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,666 (GRCm39) |
E272G |
unknown |
Het |
| Abca16 |
C |
T |
7: 120,065,023 (GRCm39) |
T560I |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,259,455 (GRCm39) |
R911G |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,612,031 (GRCm39) |
T1327A |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,904 (GRCm39) |
V272A |
possibly damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,167 (GRCm39) |
H193L |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,116 (GRCm39) |
R280G |
probably benign |
Het |
| Atg14 |
G |
T |
14: 47,788,780 (GRCm39) |
A191E |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,112,960 (GRCm39) |
P1165Q |
possibly damaging |
Het |
| Cdk8 |
G |
A |
5: 146,235,664 (GRCm39) |
A264T |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,406,150 (GRCm39) |
Q1461* |
probably null |
Het |
| Cep170b |
G |
T |
12: 112,704,045 (GRCm39) |
W659L |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,597,626 (GRCm39) |
E335G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,303,229 (GRCm39) |
T609S |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,512 (GRCm39) |
I359F |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,013,742 (GRCm39) |
N272K |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,984 (GRCm39) |
T5906A |
possibly damaging |
Het |
| Gin1 |
A |
T |
1: 97,712,498 (GRCm39) |
R220S |
probably benign |
Het |
| Gm30083 |
T |
C |
14: 33,736,861 (GRCm39) |
Y32C |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,994,083 (GRCm39) |
E445G |
unknown |
Het |
| Golga2 |
T |
C |
2: 32,193,874 (GRCm39) |
S567P |
probably damaging |
Het |
| Gpr89 |
A |
G |
3: 96,780,813 (GRCm39) |
V353A |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,506,948 (GRCm39) |
K509R |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,319 (GRCm39) |
I904T |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,187,022 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,341,532 (GRCm39) |
C315S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,730 (GRCm39) |
F135I |
possibly damaging |
Het |
| Jakmip3 |
C |
T |
7: 138,621,915 (GRCm39) |
L272F |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,440 (GRCm39) |
F1937Y |
probably damaging |
Het |
| Krtap4-16 |
G |
A |
11: 99,742,271 (GRCm39) |
T43I |
unknown |
Het |
| Lats2 |
A |
G |
14: 57,936,875 (GRCm39) |
V538A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,907 (GRCm39) |
W1597R |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,014,025 (GRCm39) |
T273S |
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,047,106 (GRCm39) |
E81D |
probably benign |
Het |
| Or13c7 |
G |
A |
4: 43,855,183 (GRCm39) |
M291I |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,517 (GRCm39) |
I43K |
probably damaging |
Het |
| Or56a41 |
A |
G |
7: 104,740,445 (GRCm39) |
F134L |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,912 (GRCm39) |
I13M |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,408 (GRCm39) |
F106S |
probably benign |
Het |
| Oxsm |
T |
C |
14: 16,241,000 (GRCm38) |
T350A |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,900 (GRCm39) |
R663Q |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,479,335 (GRCm39) |
I482N |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,655,501 (GRCm39) |
D562N |
probably damaging |
Het |
| Pdzk1ip1 |
T |
C |
4: 114,950,177 (GRCm39) |
M146T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,660,747 (GRCm39) |
T279S |
|
Het |
| Plec |
C |
T |
15: 76,058,177 (GRCm39) |
R3920Q |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,774,631 (GRCm39) |
V84E |
probably damaging |
Het |
| Ppm1m |
C |
T |
9: 106,075,104 (GRCm39) |
R147H |
probably damaging |
Het |
| Ppp2r2c |
G |
T |
5: 37,080,383 (GRCm39) |
V48L |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,521,855 (GRCm39) |
C490* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,524,598 (GRCm39) |
T18S |
probably benign |
Het |
| Rapsn |
A |
G |
2: 90,872,268 (GRCm39) |
S201G |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,012,998 (GRCm39) |
T332A |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,342 (GRCm39) |
D34G |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,079,303 (GRCm39) |
T130A |
probably benign |
Het |
| Setd1b |
G |
A |
5: 123,298,401 (GRCm39) |
G1479D |
probably damaging |
Het |
| Shd |
T |
A |
17: 56,283,268 (GRCm39) |
L299Q |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,945,896 (GRCm39) |
V55I |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,755,933 (GRCm39) |
R2405L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,686,392 (GRCm39) |
M332L |
|
Het |
| Tedc2 |
A |
G |
17: 24,435,328 (GRCm39) |
C354R |
probably benign |
Het |
| Tek |
A |
T |
4: 94,692,523 (GRCm39) |
R210S |
possibly damaging |
Het |
| Tnk2 |
T |
A |
16: 32,489,018 (GRCm39) |
M286K |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,771,686 (GRCm39) |
V162I |
probably benign |
Het |
| Wdr72 |
C |
T |
9: 74,118,041 (GRCm39) |
P930S |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,456,812 (GRCm39) |
V1308A |
unknown |
Het |
| Zfp521 |
C |
T |
18: 13,978,922 (GRCm39) |
R497Q |
probably damaging |
Het |
| Zfp799 |
T |
A |
17: 33,039,435 (GRCm39) |
K277M |
probably damaging |
Het |
| Zfp949 |
C |
T |
9: 88,436,500 (GRCm39) |
|
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 |
|
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 |
|
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'- AGATGCCACCAATGCACGTG -3'
(R):5'- GATTGCTTTGACAACCCCAG -3'
Sequencing Primer
(F):5'- ATGCACGTGGCCAACTCTC -3'
(R):5'- GATTGCTTTGACAACCCCAGTGTATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation