Incidental Mutation 'R8421:Usf3'
| ID |
653221 |
| 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 |
067898-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R8421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44037572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 684
(Q684L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112620
(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: Q684L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: Q684L
| 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 |
possibly damaging
Transcript: ENSMUST00000169582
AA Change: Q684L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: Q684L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,880,486 (GRCm39) |
E1239G |
unknown |
Het |
| Actn3 |
T |
C |
19: 4,911,741 (GRCm39) |
M806V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,048,812 (GRCm39) |
T676A |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,379,085 (GRCm39) |
Q12K |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,384 (GRCm39) |
V157D |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,791 (GRCm39) |
M163K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,518,487 (GRCm39) |
M117K |
probably benign |
Het |
| Ccdc87 |
T |
C |
19: 4,891,313 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,348,602 (GRCm39) |
R142K |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,886,718 (GRCm39) |
V431I |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,966 (GRCm39) |
D719G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,948,595 (GRCm39) |
F88S |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,968,122 (GRCm38) |
D261G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,102,477 (GRCm39) |
D2641G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,480 (GRCm39) |
V2174D |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,142 (GRCm39) |
L244P |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,379 (GRCm39) |
D620E |
unknown |
Het |
| Ide |
A |
G |
19: 37,255,403 (GRCm39) |
V800A |
|
Het |
| Ikbkb |
A |
T |
8: 23,168,804 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,493,365 (GRCm39) |
F197Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,615,435 (GRCm39) |
Y3656F |
|
Het |
| Mapkbp1 |
C |
A |
2: 119,849,431 (GRCm39) |
N708K |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,279 (GRCm39) |
M179T |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Mrpl35 |
T |
C |
6: 71,793,151 (GRCm39) |
K167E |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,366,935 (GRCm39) |
V594A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,102,269 (GRCm39) |
T356A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,111,174 (GRCm39) |
Y1692C |
probably damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,247 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,698,491 (GRCm39) |
|
probably null |
Het |
| Oxnad1 |
T |
G |
14: 31,821,431 (GRCm39) |
I172S |
probably benign |
Het |
| Padi4 |
C |
A |
4: 140,475,533 (GRCm39) |
C544F |
probably damaging |
Het |
| Pard3 |
A |
C |
8: 127,867,158 (GRCm39) |
|
probably benign |
Het |
| Plvap |
G |
A |
8: 71,964,176 (GRCm39) |
T62M |
probably damaging |
Het |
| Potefam1 |
T |
A |
2: 111,048,955 (GRCm39) |
K275* |
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,822 (GRCm39) |
A463V |
probably damaging |
Het |
| Prss21 |
T |
A |
17: 24,088,342 (GRCm39) |
D102E |
possibly damaging |
Het |
| Psmb10 |
G |
T |
8: 106,663,342 (GRCm39) |
Q182K |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,849,968 (GRCm39) |
P319S |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,826,929 (GRCm39) |
E112G |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,094,786 (GRCm39) |
T393A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,413,734 (GRCm39) |
E954G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,958,972 (GRCm39) |
I79F |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,561 (GRCm39) |
K135E |
probably benign |
Het |
| Ube2q2l |
T |
C |
6: 136,378,350 (GRCm39) |
E160G |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,178,304 (GRCm39) |
E3044G |
unknown |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,459 (GRCm39) |
M218K |
possibly damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r67 |
A |
C |
7: 84,785,893 (GRCm39) |
L704R |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,483 (GRCm39) |
T755A |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,017,331 (GRCm39) |
T381A |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,620 (GRCm39) |
D957G |
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 |
|
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 |
|
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'- CCCACAGACTTTTGGAGGAAAG -3'
(R):5'- AGTTGTTGTTAGTGAAACGCAG -3'
Sequencing Primer
(F):5'- TTGGAGGAAAGCATCTTGTCCAC -3'
(R):5'- CTGGTTTGACTGTTTGCAGAAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation