Incidental Mutation 'R5034:Usf3'
| ID |
389471 |
| 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 |
042625-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 44036762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 414
(K414T)
|
| 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: K414T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: K414T
| 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: K414T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: K414T
| 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 |
0.0649 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (67/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
| Adam6b |
G |
T |
12: 113,454,547 (GRCm39) |
G455C |
probably damaging |
Het |
| Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,193 (GRCm39) |
S1312G |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
| Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
| Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
| Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
| Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
| Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Magel2 |
A |
T |
7: 62,029,616 (GRCm39) |
H840L |
unknown |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
| Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
| Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
| Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
| Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
| Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
| Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,253,377 (GRCm39) |
V218A |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
| Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
| Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
| Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
| Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
| Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
probably damaging |
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 |
|
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'- CCAGTGAGTGGTAGCAAGAC -3'
(R):5'- AACTGGCTGCCCATCTGTTG -3'
Sequencing Primer
(F):5'- TGGTAGCAAGACTGTAGACTCACC -3'
(R):5'- TGATAGCTGTAGCCACGTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation