Incidental Mutation 'R2484:Usf3'
| ID |
250883 |
| 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 |
040408-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R2484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44041045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 1842
(H1842Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119746
AA Change: H1842Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: H1842Y
| 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: H1842Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: H1842Y
| 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 |
0.1521 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,541,819 (GRCm39) |
D46N |
possibly damaging |
Het |
| A830018L16Rik |
G |
T |
1: 11,666,526 (GRCm39) |
A278S |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,641 (GRCm39) |
N252S |
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,810 (GRCm39) |
K99* |
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,883 (GRCm39) |
S460P |
probably damaging |
Het |
| Bicra |
T |
A |
7: 15,722,605 (GRCm39) |
N304I |
possibly damaging |
Het |
| Capn10 |
A |
T |
1: 92,872,565 (GRCm39) |
D470V |
probably damaging |
Het |
| Chchd3 |
A |
G |
6: 32,780,950 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,658,003 (GRCm39) |
I736M |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,380,236 (GRCm39) |
N820I |
probably damaging |
Het |
| Drd4 |
C |
T |
7: 140,874,649 (GRCm39) |
P347S |
probably benign |
Het |
| Ephx1 |
A |
T |
1: 180,817,537 (GRCm39) |
V378D |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,313,184 (GRCm39) |
V666E |
probably damaging |
Het |
| Fam20c |
G |
C |
5: 138,794,872 (GRCm39) |
R500S |
probably benign |
Het |
| Glod4 |
A |
T |
11: 76,130,344 (GRCm39) |
D42E |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,194,782 (GRCm39) |
I643T |
probably benign |
Het |
| Hnf1b |
A |
T |
11: 83,752,661 (GRCm39) |
T73S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,239,747 (GRCm39) |
Y2009C |
possibly damaging |
Het |
| Ido2 |
A |
G |
8: 25,023,831 (GRCm39) |
C336R |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,163 (GRCm39) |
V108A |
probably damaging |
Het |
| Igbp1b |
A |
T |
6: 138,634,492 (GRCm39) |
N317K |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,893,366 (GRCm39) |
S511G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,346,071 (GRCm39) |
S125P |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,620 (GRCm39) |
T975A |
possibly damaging |
Het |
| Klra17 |
A |
G |
6: 129,845,720 (GRCm39) |
W165R |
probably damaging |
Het |
| Leo1 |
T |
A |
9: 75,352,755 (GRCm39) |
N99K |
possibly damaging |
Het |
| Lonp1 |
C |
A |
17: 56,921,659 (GRCm39) |
G883C |
probably damaging |
Het |
| Lpin1 |
C |
A |
12: 16,597,500 (GRCm39) |
G682W |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,367,465 (GRCm39) |
L2432R |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,205,259 (GRCm39) |
I2075M |
probably benign |
Het |
| Mroh6 |
A |
G |
15: 75,756,177 (GRCm39) |
S660P |
probably benign |
Het |
| Myh6 |
G |
T |
14: 55,198,699 (GRCm39) |
Y309* |
probably null |
Het |
| Myof |
C |
T |
19: 37,892,291 (GRCm39) |
R1154H |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,253,685 (GRCm39) |
E253K |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,346,186 (GRCm39) |
D281G |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,353,182 (GRCm39) |
K1788R |
probably damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,717 (GRCm39) |
|
probably benign |
Het |
| Nptn |
A |
G |
9: 58,550,956 (GRCm39) |
T212A |
possibly damaging |
Het |
| Nptx2 |
C |
T |
5: 144,493,155 (GRCm39) |
A414V |
probably damaging |
Het |
| Nub1 |
A |
G |
5: 24,913,700 (GRCm39) |
D503G |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,898,366 (GRCm39) |
|
probably benign |
Het |
| Or4a80 |
A |
G |
2: 89,582,578 (GRCm39) |
I198T |
probably benign |
Het |
| Or51q1 |
A |
G |
7: 103,628,545 (GRCm39) |
T49A |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,879,005 (GRCm39) |
M46I |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,617,859 (GRCm39) |
E132G |
probably damaging |
Het |
| Pkdcc |
A |
G |
17: 83,529,667 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
T |
A |
4: 142,861,776 (GRCm39) |
I505F |
probably damaging |
Het |
| Psmc3 |
C |
G |
2: 90,886,346 (GRCm39) |
Q169E |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,264,654 (GRCm39) |
I334N |
probably benign |
Het |
| Ptrh1 |
T |
C |
2: 32,667,183 (GRCm39) |
M161T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,533,582 (GRCm39) |
V482D |
possibly damaging |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,946 (GRCm39) |
S188P |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,616,040 (GRCm39) |
Y31C |
probably damaging |
Het |
| Selp |
G |
T |
1: 163,971,523 (GRCm39) |
W659L |
probably benign |
Het |
| Selp |
G |
T |
1: 163,971,524 (GRCm39) |
W659C |
probably damaging |
Het |
| Shh |
A |
G |
5: 28,671,740 (GRCm39) |
C8R |
probably benign |
Het |
| Spdye4b |
C |
A |
5: 143,187,848 (GRCm39) |
S167R |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,535,537 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Sucla2 |
A |
T |
14: 73,819,149 (GRCm39) |
I232F |
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,522,174 (GRCm39) |
D437G |
possibly damaging |
Het |
| Taf1a |
A |
G |
1: 183,177,422 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,153,283 (GRCm39) |
M271K |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,899,752 (GRCm39) |
S707P |
probably benign |
Het |
| Tert |
G |
A |
13: 73,796,104 (GRCm39) |
R1017H |
probably benign |
Het |
| Tox |
C |
G |
4: 6,688,886 (GRCm39) |
V493L |
probably damaging |
Het |
| Tpo |
C |
T |
12: 30,153,968 (GRCm39) |
A246T |
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,613 (GRCm39) |
V358D |
probably damaging |
Het |
| Trim56 |
C |
T |
5: 137,141,528 (GRCm39) |
V663M |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,668 (GRCm39) |
E509G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,392 (GRCm39) |
D305G |
possibly damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,903,058 (GRCm39) |
R457G |
probably damaging |
Het |
| Vti1a |
A |
C |
19: 55,369,411 (GRCm39) |
N101T |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,686,762 (GRCm39) |
F259L |
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 |
|
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 |
|
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'- GTTCAGAGCATCCCAACAGG -3'
(R):5'- CATGGCTGTCAGTAATCCTCATG -3'
Sequencing Primer
(F):5'- GGAAATGCTGTCCCACCAAGG -3'
(R):5'- TGGGATTGGACTTCTGTACAGAAAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation