Incidental Mutation 'R8692:Usf3'
| ID |
668471 |
| 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 |
068546-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R8692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44040103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1528
(S1528P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119746
AA Change: S1528P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S1528P
| 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 |
probably benign
Transcript: ENSMUST00000169582
AA Change: S1528P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S1528P
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,327,874 (GRCm39) |
I1402S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,032,409 (GRCm39) |
D736G |
probably benign |
Het |
| Acy1 |
T |
C |
9: 106,310,377 (GRCm39) |
E377G |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,058,270 (GRCm39) |
V2251M |
probably damaging |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,587,410 (GRCm39) |
K129R |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,875,793 (GRCm39) |
F259I |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,162,083 (GRCm39) |
N307S |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,423,769 (GRCm39) |
V143M |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,444 (GRCm39) |
I561K |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,472,175 (GRCm39) |
S3531A |
probably benign |
Het |
| Dnajc14 |
T |
A |
10: 128,642,900 (GRCm39) |
I274N |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,853,077 (GRCm39) |
L48S |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,242,549 (GRCm39) |
I115N |
probably damaging |
Het |
| Ermp1 |
T |
A |
19: 29,594,093 (GRCm39) |
L692F |
probably benign |
Het |
| Fcho2 |
GT |
G |
13: 98,882,382 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,615,722 (GRCm39) |
C536S |
probably benign |
Het |
| Fermt2 |
A |
T |
14: 45,742,099 (GRCm39) |
C82* |
probably null |
Het |
| Gabra6 |
G |
T |
11: 42,210,537 (GRCm39) |
D61E |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,690,140 (GRCm39) |
S611T |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
G |
A |
18: 9,726,336 (GRCm39) |
A112V |
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,472,071 (GRCm39) |
L2Q |
probably damaging |
Het |
| Hif3a |
A |
T |
7: 16,788,701 (GRCm39) |
L90Q |
probably benign |
Het |
| Irf3 |
C |
T |
7: 44,649,889 (GRCm39) |
Q168* |
probably null |
Het |
| Krt82 |
T |
G |
15: 101,456,828 (GRCm39) |
D184A |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,594,445 (GRCm39) |
S28P |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,752,443 (GRCm39) |
N197K |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,199,587 (GRCm39) |
D243G |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,450,875 (GRCm39) |
W299R |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,792,050 (GRCm39) |
R862L |
possibly damaging |
Het |
| Nasp |
T |
A |
4: 116,469,280 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,414,049 (GRCm39) |
I1073T |
probably damaging |
Het |
| Nek2 |
A |
T |
1: 191,554,745 (GRCm39) |
K152N |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,960 (GRCm39) |
E68G |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,096 (GRCm39) |
I13F |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,595 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,955,228 (GRCm39) |
I361N |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,289,805 (GRCm39) |
S875T |
possibly damaging |
Het |
| Pde7b |
G |
T |
10: 20,423,639 (GRCm39) |
P79Q |
probably benign |
Het |
| Phb2 |
G |
A |
6: 124,692,097 (GRCm39) |
A228T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,225,971 (GRCm39) |
C888* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,462,374 (GRCm39) |
L2060Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,052 (GRCm39) |
M496V |
probably benign |
Het |
| Ppfibp1 |
C |
T |
6: 146,892,013 (GRCm39) |
T91I |
probably benign |
Het |
| Ppp1r9b |
T |
C |
11: 94,891,077 (GRCm39) |
L557P |
probably damaging |
Het |
| Ppp2r5c |
G |
T |
12: 110,489,032 (GRCm39) |
V68L |
probably benign |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,115,353 (GRCm39) |
T745I |
probably damaging |
Het |
| Rnf144a |
G |
A |
12: 26,370,972 (GRCm39) |
T163I |
probably benign |
Het |
| Sbsn |
A |
T |
7: 30,451,522 (GRCm39) |
H179L |
unknown |
Het |
| Simc1 |
G |
A |
13: 54,673,193 (GRCm39) |
V514I |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,047,051 (GRCm39) |
M249T |
|
Het |
| Slfn4 |
T |
A |
11: 83,079,709 (GRCm39) |
H466Q |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,808,794 (GRCm39) |
C172S |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,673,989 (GRCm39) |
I1698T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tiam2 |
A |
C |
17: 3,479,082 (GRCm39) |
D605A |
probably damaging |
Het |
| Tmed4 |
A |
T |
11: 6,223,822 (GRCm39) |
D151E |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,794,465 (GRCm39) |
I211F |
possibly damaging |
Het |
| Ttpa |
A |
G |
4: 20,008,585 (GRCm39) |
D49G |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,379,325 (GRCm39) |
T1991I |
|
Het |
| Vash1 |
G |
A |
12: 86,735,863 (GRCm39) |
V250M |
possibly damaging |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,809 (GRCm39) |
*368Q |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,972 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,557 (GRCm39) |
F203L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,319,514 (GRCm39) |
Q489K |
probably benign |
Het |
| Vmn2r-ps158 |
G |
T |
7: 42,697,108 (GRCm39) |
A722S |
probably benign |
Het |
| Zfp385b |
A |
T |
2: 77,549,971 (GRCm39) |
V38E |
probably damaging |
Het |
| Zfp820 |
A |
G |
17: 22,037,876 (GRCm39) |
I484T |
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 |
|
|
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 |
|
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'- ACTTGTATCAGCTGCAGCATC -3'
(R):5'- TGCCCAGATACATGGTCAGAAC -3'
Sequencing Primer
(F):5'- ATCAGCTGCAGCATCATGTG -3'
(R):5'- GATACATGGTCAGAACCCTGCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation