Incidental Mutation 'R1774:Usf3'
ID |
196971 |
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 |
039805-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R1774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44036033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 171
(N171S)
|
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 damaging
Transcript: ENSMUST00000119746
AA Change: N171S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112620 Gene: ENSMUSG00000068284 AA Change: N171S
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 damaging
Transcript: ENSMUST00000169582
AA Change: N171S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128627 Gene: ENSMUSG00000068284 AA Change: N171S
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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,982,351 (GRCm39) |
V312A |
probably damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,791,453 (GRCm39) |
V42A |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,387,012 (GRCm39) |
Q114L |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,144,964 (GRCm39) |
I625T |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,300,628 (GRCm39) |
V735A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,947,008 (GRCm39) |
I2909N |
probably damaging |
Het |
C7 |
C |
G |
15: 5,041,557 (GRCm39) |
D450H |
probably damaging |
Het |
Cachd1 |
C |
T |
4: 100,821,632 (GRCm39) |
T403I |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,824,240 (GRCm39) |
F560L |
probably benign |
Het |
Cacna2d2 |
A |
T |
9: 107,403,350 (GRCm39) |
Y944F |
probably benign |
Het |
Cdkal1 |
C |
T |
13: 30,034,031 (GRCm39) |
D21N |
probably damaging |
Het |
Col18a1 |
T |
C |
10: 76,895,815 (GRCm39) |
R901G |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,143,950 (GRCm39) |
P546L |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,210,041 (GRCm39) |
R624W |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,925,643 (GRCm39) |
I93F |
probably benign |
Het |
Cyp2c40 |
G |
C |
19: 39,775,250 (GRCm39) |
T334R |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,062,390 (GRCm39) |
D43E |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,833,357 (GRCm39) |
C1955F |
unknown |
Het |
Ethe1 |
G |
A |
7: 24,293,371 (GRCm39) |
V6I |
probably benign |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fasn |
T |
C |
11: 120,707,997 (GRCm39) |
Y685C |
probably damaging |
Het |
Gga2 |
T |
G |
7: 121,611,444 (GRCm39) |
D38A |
probably damaging |
Het |
Gm43302 |
T |
A |
5: 105,423,660 (GRCm39) |
I438F |
probably benign |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Hic2 |
G |
T |
16: 17,076,511 (GRCm39) |
V447L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,388,242 (GRCm39) |
C462Y |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,672 (GRCm39) |
D1138G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,224,433 (GRCm39) |
T158A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,595,611 (GRCm39) |
V120E |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,008,625 (GRCm39) |
N456S |
probably benign |
Het |
Itgal |
T |
A |
7: 126,908,794 (GRCm39) |
|
probably null |
Het |
Lrrc66 |
G |
C |
5: 73,768,198 (GRCm39) |
Q248E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,865,929 (GRCm39) |
M1271L |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,795,827 (GRCm39) |
S267P |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,233 (GRCm39) |
S550P |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,143,119 (GRCm39) |
|
probably null |
Het |
Mdm4 |
A |
C |
1: 132,924,384 (GRCm39) |
S246A |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,779,584 (GRCm39) |
E887G |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,659 (GRCm39) |
A254V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,064,300 (GRCm39) |
Y85C |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,465,988 (GRCm39) |
Y366H |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,515,678 (GRCm39) |
P1708S |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,093,543 (GRCm39) |
S41T |
probably benign |
Het |
Nptx2 |
T |
A |
5: 144,490,248 (GRCm39) |
S226T |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,473,771 (GRCm39) |
S562T |
probably benign |
Het |
Nxpe5 |
T |
C |
5: 138,237,797 (GRCm39) |
V107A |
probably benign |
Het |
Obi1 |
A |
G |
14: 104,717,098 (GRCm39) |
V425A |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,765,423 (GRCm39) |
E128G |
probably benign |
Het |
Or10ac1 |
A |
T |
6: 42,515,453 (GRCm39) |
F168I |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,328 (GRCm39) |
V43A |
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,855,674 (GRCm39) |
I280F |
probably benign |
Het |
Or6p1 |
A |
G |
1: 174,258,905 (GRCm39) |
T304A |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,495 (GRCm39) |
P214S |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,725 (GRCm39) |
F702I |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,022,094 (GRCm39) |
F1475S |
probably damaging |
Het |
Pde5a |
C |
A |
3: 122,523,013 (GRCm39) |
T40N |
probably benign |
Het |
Pnpla2 |
T |
A |
7: 141,039,481 (GRCm39) |
V398E |
probably damaging |
Het |
Pramel19 |
G |
A |
4: 101,797,655 (GRCm39) |
V18M |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab20 |
T |
C |
8: 11,504,223 (GRCm39) |
K159R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,123,747 (GRCm39) |
V510D |
probably benign |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
A |
T |
7: 12,731,534 (GRCm39) |
C23* |
probably null |
Het |
Slc35e2 |
T |
C |
4: 155,694,621 (GRCm39) |
V56A |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,909,643 (GRCm39) |
S143P |
probably damaging |
Het |
Stat5a |
C |
T |
11: 100,770,112 (GRCm39) |
S463F |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,146,562 (GRCm39) |
D360G |
possibly damaging |
Het |
Tas2r143 |
A |
T |
6: 42,377,305 (GRCm39) |
D45V |
probably damaging |
Het |
Tdrd5 |
G |
T |
1: 156,105,079 (GRCm39) |
R516S |
probably damaging |
Het |
Thy1 |
A |
G |
9: 43,958,636 (GRCm39) |
D126G |
probably benign |
Het |
Tspear |
C |
T |
10: 77,709,019 (GRCm39) |
T415I |
probably benign |
Het |
Ttll5 |
C |
A |
12: 85,980,176 (GRCm39) |
T920K |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,365,152 (GRCm39) |
F542L |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,574 (GRCm39) |
E64G |
possibly damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,675 (GRCm39) |
R34S |
probably damaging |
Het |
Wasf1 |
C |
G |
10: 40,810,475 (GRCm39) |
P239R |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,857 (GRCm39) |
R164* |
probably null |
Het |
Zan |
C |
A |
5: 137,418,251 (GRCm39) |
C2949F |
unknown |
Het |
Zbed4 |
T |
C |
15: 88,665,080 (GRCm39) |
S383P |
probably benign |
Het |
Zfand5 |
T |
A |
19: 21,253,895 (GRCm39) |
C33S |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,984 (GRCm39) |
Y437C |
probably damaging |
Het |
Zfp451 |
A |
C |
1: 33,852,849 (GRCm39) |
S22A |
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 |
|
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 |
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'- TGCTTGTATGATGACCCCACAATCC -3'
(R):5'- CCAACTGAAACGGTGACCACTGAG -3'
Sequencing Primer
(F):5'- TCCACTGGAAAGGCAATCTG -3'
(R):5'- CCACTTGATTGGCTTTCAGAAG -3'
|
Posted On |
2014-05-23 |