Incidental Mutation 'R4024:Usf3'
ID |
475291 |
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 |
041612-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R4024 (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 A
at 44036528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 336
(V336E)
|
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 |
possibly damaging
Transcript: ENSMUST00000119746
AA Change: V336E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112620 Gene: ENSMUSG00000068284 AA Change: V336E
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 |
possibly damaging
Transcript: ENSMUST00000169582
AA Change: V336E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128627 Gene: ENSMUSG00000068284 AA Change: V336E
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,215,251 (GRCm39) |
Y842H |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,849,765 (GRCm39) |
|
probably benign |
Het |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
Armc2 |
A |
G |
10: 41,869,054 (GRCm39) |
S37P |
probably benign |
Het |
Bhmt2 |
G |
A |
13: 93,799,839 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
T |
2: 154,054,966 (GRCm39) |
D286V |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,705,539 (GRCm38) |
E285D |
probably damaging |
Het |
Cap2 |
C |
T |
13: 46,791,317 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Cmip |
A |
G |
8: 118,174,155 (GRCm39) |
I412V |
possibly damaging |
Het |
Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,324,147 (GRCm39) |
S565G |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,821 (GRCm39) |
Y60C |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,074 (GRCm39) |
V170A |
possibly damaging |
Het |
Foxk2 |
T |
A |
11: 121,176,439 (GRCm39) |
I195N |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gpr6 |
G |
A |
10: 40,947,264 (GRCm39) |
T106M |
probably damaging |
Het |
Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
Hnmt |
T |
C |
2: 23,893,777 (GRCm39) |
D239G |
probably benign |
Het |
Igf2 |
A |
G |
7: 142,208,044 (GRCm39) |
V111A |
probably benign |
Het |
Lrriq3 |
G |
A |
3: 154,893,939 (GRCm39) |
E547K |
probably benign |
Het |
Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
Mroh8 |
A |
G |
2: 157,098,272 (GRCm39) |
V292A |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,776 (GRCm39) |
|
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,026,154 (GRCm39) |
T195A |
probably benign |
Het |
Or10aa3 |
C |
T |
1: 173,878,683 (GRCm39) |
T248I |
probably benign |
Het |
Or2t47 |
G |
A |
11: 58,442,222 (GRCm39) |
T281I |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
Or8w1 |
T |
A |
2: 87,465,499 (GRCm39) |
L197F |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,309,207 (GRCm39) |
V233A |
probably damaging |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,605,681 (GRCm39) |
D903G |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,937,674 (GRCm39) |
D1681G |
probably damaging |
Het |
Slk |
A |
G |
19: 47,610,809 (GRCm39) |
|
probably null |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Tlr11 |
C |
T |
14: 50,600,303 (GRCm39) |
T763I |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,590,736 (GRCm39) |
T308A |
possibly damaging |
Het |
Tyk2 |
G |
A |
9: 21,027,215 (GRCm39) |
L552F |
probably damaging |
Het |
Ubp1 |
A |
G |
9: 113,773,951 (GRCm39) |
D50G |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,873,915 (GRCm39) |
I1172N |
possibly damaging |
Het |
Vangl2 |
T |
C |
1: 171,835,608 (GRCm39) |
S355G |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,284,061 (GRCm39) |
D248G |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,117,510 (GRCm39) |
V701A |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,071,961 (GRCm39) |
|
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,544 (GRCm39) |
C258S |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
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 |
|
Posted On |
2017-04-14 |