Incidental Mutation 'R5020:Usf3'
| ID |
389169 |
| 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 |
042611-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5020 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44035889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 123
(I123N)
|
| 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: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: I123N
| 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: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: I123N
| 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 |
0.2613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,042,929 (GRCm39) |
|
probably null |
Het |
| Actl6a |
A |
G |
3: 32,774,656 (GRCm39) |
I340V |
possibly damaging |
Het |
| Alppl2 |
C |
T |
1: 87,017,431 (GRCm39) |
V19I |
probably benign |
Het |
| Ankrd34c |
T |
C |
9: 89,611,759 (GRCm39) |
K194R |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,483,475 (GRCm39) |
M672L |
probably benign |
Het |
| Arhgap31 |
T |
C |
16: 38,423,438 (GRCm39) |
D876G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,269,869 (GRCm39) |
N1327K |
probably damaging |
Het |
| Atp5f1d |
C |
A |
10: 79,981,263 (GRCm39) |
P101Q |
probably benign |
Het |
| Bcl7b |
G |
A |
5: 135,200,017 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,483,901 (GRCm39) |
S2907C |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,134 (GRCm39) |
E350G |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,811 (GRCm39) |
D2929E |
probably damaging |
Het |
| Clec2i |
T |
A |
6: 128,870,621 (GRCm39) |
V78E |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,237,897 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
T |
16: 59,375,159 (GRCm39) |
V2032I |
possibly damaging |
Het |
| Eif5b |
A |
T |
1: 38,058,150 (GRCm39) |
K151* |
probably null |
Het |
| Gemin7 |
T |
A |
7: 19,299,348 (GRCm39) |
E82D |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,633,152 (GRCm39) |
E45G |
possibly damaging |
Het |
| Gm21915 |
T |
C |
9: 40,581,966 (GRCm39) |
S20P |
probably damaging |
Het |
| Gm8126 |
A |
C |
14: 43,119,026 (GRCm39) |
E165A |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,405 (GRCm39) |
D1047G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,201,397 (GRCm39) |
Y150F |
probably damaging |
Het |
| Inhca |
T |
C |
9: 103,159,701 (GRCm39) |
D70G |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,245,315 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,365,217 (GRCm39) |
Q645R |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,897,868 (GRCm39) |
M712V |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,015,255 (GRCm39) |
S823P |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,068 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Mga |
A |
T |
2: 119,781,654 (GRCm39) |
K2136* |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,652,204 (GRCm39) |
E304G |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,445,984 (GRCm39) |
D29E |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,713 (GRCm39) |
I984N |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,469,270 (GRCm39) |
Y628H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,076 (GRCm39) |
C440Y |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,136,637 (GRCm39) |
V29A |
probably benign |
Het |
| Or6p1 |
T |
G |
1: 174,258,237 (GRCm39) |
L81R |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,022,016 (GRCm39) |
V513A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,869 (GRCm39) |
N124S |
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,914,622 (GRCm39) |
F139S |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,666,714 (GRCm39) |
L1081H |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,323 (GRCm39) |
F160I |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,091,540 (GRCm39) |
D115A |
probably damaging |
Het |
| Plekho1 |
A |
G |
3: 95,896,851 (GRCm39) |
F215S |
probably damaging |
Het |
| Psma4 |
C |
A |
9: 54,860,056 (GRCm39) |
A47E |
probably damaging |
Het |
| Rasa4 |
A |
C |
5: 136,130,153 (GRCm39) |
Q303P |
probably damaging |
Het |
| Rbmxl2 |
C |
T |
7: 106,809,414 (GRCm39) |
P233L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,239,636 (GRCm39) |
L877H |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,964,307 (GRCm39) |
|
probably null |
Het |
| Septin12 |
T |
C |
16: 4,811,620 (GRCm39) |
D116G |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,263 (GRCm39) |
V670E |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,988,612 (GRCm39) |
I544N |
probably benign |
Het |
| Spsb3 |
T |
G |
17: 25,106,036 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,652 (GRCm39) |
F164L |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,836 (GRCm39) |
T59A |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,566,531 (GRCm39) |
I649K |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,793 (GRCm39) |
D37G |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,113 (GRCm39) |
A496V |
probably benign |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,955 (GRCm39) |
S234T |
possibly damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,741 (GRCm39) |
S314* |
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,801,892 (GRCm39) |
F1922S |
probably damaging |
Het |
| Zfp219 |
C |
T |
14: 52,247,112 (GRCm39) |
R5H |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,674,584 (GRCm39) |
C446F |
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 |
|
|
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'- GTGGCTTAGCACATATAGTTTTGC -3'
(R):5'- ACACGGGAGTCACAAGCTTG -3'
Sequencing Primer
(F):5'- GCTTAGCACATATAGTTTTGCTTAAG -3'
(R):5'- AGTCACAAGCTTGCAGGTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation