Incidental Mutation 'R9266:Usf3'
ID |
702563 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R9266 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44040095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1525
(T1525I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
AlphaFold |
B2RUQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119746
AA Change: T1525I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112620 Gene: ENSMUSG00000068284 AA Change: T1525I
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 damaging
Transcript: ENSMUST00000169582
AA Change: T1525I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128627 Gene: ENSMUSG00000068284 AA Change: T1525I
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
A |
17: 36,270,178 (GRCm39) |
E627* |
probably null |
Het |
Aoc1l2 |
A |
G |
6: 48,907,171 (GRCm39) |
N57S |
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,006,386 (GRCm39) |
V670A |
probably benign |
Het |
Arhgef16 |
C |
A |
4: 154,375,922 (GRCm39) |
R24L |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,985,967 (GRCm39) |
D251E |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,649,271 (GRCm39) |
S447G |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,704,108 (GRCm39) |
M337V |
probably benign |
Het |
Atp8b1 |
C |
T |
18: 64,710,528 (GRCm39) |
D170N |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,856,230 (GRCm39) |
|
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cdh19 |
A |
G |
1: 110,817,771 (GRCm39) |
L657P |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,372,544 (GRCm39) |
V598E |
probably damaging |
Het |
Cwc22 |
A |
G |
2: 77,754,952 (GRCm39) |
I208T |
probably benign |
Het |
Cyp4a32 |
T |
A |
4: 115,468,307 (GRCm39) |
D292E |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,845,990 (GRCm39) |
V1510I |
probably benign |
Het |
Dpp3 |
G |
T |
19: 4,964,686 (GRCm39) |
Y540* |
probably null |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Elf1 |
A |
G |
14: 79,798,290 (GRCm39) |
D59G |
probably benign |
Het |
Epc1 |
A |
T |
18: 6,449,219 (GRCm39) |
M476K |
probably benign |
Het |
Espnl |
C |
A |
1: 91,272,771 (GRCm39) |
S710R |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,683,926 (GRCm39) |
W148R |
probably damaging |
Het |
Fhod1 |
A |
G |
8: 106,065,531 (GRCm39) |
L88P |
unknown |
Het |
Frmd4a |
A |
G |
2: 4,610,846 (GRCm39) |
S999G |
probably damaging |
Het |
Glmp |
T |
C |
3: 88,233,036 (GRCm39) |
I58T |
probably damaging |
Het |
Gm45861 |
T |
A |
8: 28,074,674 (GRCm39) |
D1341E |
unknown |
Het |
Gpr179 |
A |
G |
11: 97,227,766 (GRCm39) |
I1463T |
probably benign |
Het |
Gsdmc2 |
T |
C |
15: 63,698,088 (GRCm39) |
E339G |
probably damaging |
Het |
Insm1 |
A |
T |
2: 146,064,933 (GRCm39) |
I250F |
probably damaging |
Het |
Insm1 |
G |
A |
2: 146,064,943 (GRCm39) |
G253D |
possibly damaging |
Het |
Itih1 |
A |
T |
14: 30,652,222 (GRCm39) |
S824T |
probably damaging |
Het |
Lactb |
A |
G |
9: 66,878,499 (GRCm39) |
Y190H |
possibly damaging |
Het |
Lrba |
T |
C |
3: 86,198,774 (GRCm39) |
M197T |
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,459,853 (GRCm39) |
I160V |
probably benign |
Het |
Lrrc59 |
A |
T |
11: 94,532,044 (GRCm39) |
|
probably null |
Het |
Ltk |
A |
T |
2: 119,585,121 (GRCm39) |
M425K |
possibly damaging |
Het |
Map9 |
T |
C |
3: 82,278,594 (GRCm39) |
V198A |
possibly damaging |
Het |
Mms22l |
T |
C |
4: 24,578,878 (GRCm39) |
Y746H |
probably damaging |
Het |
Ms4a4b |
A |
G |
19: 11,432,060 (GRCm39) |
I60M |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,480,065 (GRCm39) |
W44R |
probably benign |
Het |
Nadsyn1 |
A |
T |
7: 143,369,348 (GRCm39) |
W128R |
probably damaging |
Het |
Nrcam |
G |
A |
12: 44,636,917 (GRCm39) |
A1117T |
probably damaging |
Het |
Ntng1 |
G |
A |
3: 110,050,923 (GRCm39) |
|
probably benign |
Het |
Ntng1 |
A |
G |
3: 110,051,162 (GRCm39) |
F56L |
unknown |
Het |
Oas2 |
A |
T |
5: 120,887,637 (GRCm39) |
Y68N |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,854 (GRCm39) |
F222I |
possibly damaging |
Het |
Or5b101 |
A |
C |
19: 13,005,648 (GRCm39) |
L15R |
probably damaging |
Het |
Or6c6c |
T |
C |
10: 129,541,547 (GRCm39) |
S267P |
probably benign |
Het |
Pals2 |
T |
C |
6: 50,140,463 (GRCm39) |
M161T |
probably benign |
Het |
Paqr8 |
C |
T |
1: 21,005,863 (GRCm39) |
T339I |
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,881,814 (GRCm39) |
E525G |
probably benign |
Het |
Psg28 |
T |
G |
7: 18,161,752 (GRCm39) |
L250F |
probably benign |
Het |
S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
Slc16a4 |
A |
T |
3: 107,199,788 (GRCm39) |
T12S |
probably benign |
Het |
Slc9b1 |
A |
G |
3: 135,054,468 (GRCm39) |
|
probably benign |
Het |
Slit3 |
T |
C |
11: 35,598,808 (GRCm39) |
S1471P |
probably damaging |
Het |
Smpdl3a |
T |
C |
10: 57,678,596 (GRCm39) |
V133A |
possibly damaging |
Het |
Snap23 |
C |
T |
2: 120,414,781 (GRCm39) |
|
probably benign |
Het |
Spp2 |
A |
G |
1: 88,344,975 (GRCm39) |
M146V |
probably benign |
Het |
Syf2 |
C |
A |
4: 134,663,321 (GRCm39) |
N164K |
possibly damaging |
Het |
Sync |
T |
G |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
Tex56 |
A |
G |
13: 35,116,569 (GRCm39) |
K106R |
possibly damaging |
Het |
Tmigd3 |
T |
C |
3: 105,824,216 (GRCm39) |
F62L |
probably benign |
Het |
Trpa1 |
C |
T |
1: 14,980,953 (GRCm39) |
|
probably null |
Het |
U2surp |
A |
T |
9: 95,366,468 (GRCm39) |
I480N |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,057 (GRCm39) |
I841M |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,738,007 (GRCm39) |
Q868L |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,828,385 (GRCm39) |
E309G |
possibly 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 |
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 |
|
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'- GCATCACTTGTATCAGCTGC -3'
(R):5'- AGATACATGGTCAGAACCCTGC -3'
Sequencing Primer
(F):5'- ATCAGCTGCAGCATCATGTG -3'
(R):5'- AACATCCTGTTGCTGGTGTAGAAC -3'
|
Posted On |
2022-03-25 |