Incidental Mutation 'IGL01982:Usf3'
| ID |
182778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usf3
|
| Ensembl Gene |
ENSMUSG00000068284 |
| Gene Name |
upstream transcription factor family member 3 |
| Synonyms |
LOC207806, 5530400K22Rik, Gm608, LOC385650 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
IGL01982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43993609-44047828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44039180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1220
(N1220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119746]
[ENSMUST00000169582]
|
| AlphaFold |
B2RUQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119746
AA Change: N1220S
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: N1220S
| 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 |
possibly damaging
Transcript: ENSMUST00000169582
AA Change: N1220S
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: N1220S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,385,857 (GRCm39) |
S254A |
probably benign |
Het |
| Abca7 |
T |
G |
10: 79,838,475 (GRCm39) |
L583R |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,961,491 (GRCm39) |
L14H |
possibly damaging |
Het |
| Adar |
A |
G |
3: 89,645,397 (GRCm39) |
I3V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,845 (GRCm39) |
I103V |
probably benign |
Het |
| Asic3 |
C |
A |
5: 24,622,719 (GRCm39) |
T523N |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,419,326 (GRCm39) |
V1732A |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,838,384 (GRCm39) |
R211Q |
possibly damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,299 (GRCm39) |
Y2286C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,099,078 (GRCm39) |
E569G |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,521 (GRCm39) |
N237S |
probably benign |
Het |
| Bysl |
C |
A |
17: 47,921,996 (GRCm39) |
|
probably null |
Het |
| C2cd6 |
T |
C |
1: 59,106,932 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,861,003 (GRCm39) |
F925L |
probably damaging |
Het |
| Cdca2 |
A |
T |
14: 67,915,168 (GRCm39) |
V697E |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,776,081 (GRCm39) |
D324G |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,732 (GRCm39) |
I91F |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,187,335 (GRCm39) |
C11Y |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,252 (GRCm39) |
N142S |
possibly damaging |
Het |
| Cyp3a59 |
G |
T |
5: 146,041,545 (GRCm39) |
S363I |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,919 (GRCm39) |
D567E |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,006,448 (GRCm39) |
A233V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,887,107 (GRCm39) |
I2630F |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,609,658 (GRCm39) |
E77V |
probably null |
Het |
| Gjb6 |
C |
A |
14: 57,362,030 (GRCm39) |
W77L |
probably damaging |
Het |
| Gm21983 |
A |
G |
7: 26,879,703 (GRCm39) |
V88A |
possibly damaging |
Het |
| Gm8247 |
A |
G |
14: 44,823,088 (GRCm39) |
T52A |
probably damaging |
Het |
| Gpr108 |
T |
C |
17: 57,544,877 (GRCm39) |
K329E |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,935,908 (GRCm39) |
H289L |
probably benign |
Het |
| Ilvbl |
T |
C |
10: 78,414,856 (GRCm39) |
Y240H |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,947,159 (GRCm39) |
A1868T |
probably benign |
Het |
| Lrmda |
A |
C |
14: 22,634,550 (GRCm39) |
N112T |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,142,108 (GRCm39) |
Y1334C |
probably damaging |
Het |
| Macc1 |
C |
A |
12: 119,409,369 (GRCm39) |
P46T |
probably benign |
Het |
| Madd |
A |
T |
2: 91,006,052 (GRCm39) |
F381Y |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,128,677 (GRCm39) |
Q38* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,448,284 (GRCm39) |
D424E |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,699,100 (GRCm39) |
M463K |
possibly damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,562,492 (GRCm39) |
L157P |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,451,487 (GRCm39) |
S516P |
probably damaging |
Het |
| Nme5 |
T |
A |
18: 34,702,928 (GRCm39) |
D120V |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,869,282 (GRCm39) |
N2S |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,595,245 (GRCm39) |
|
probably benign |
Het |
| Omd |
T |
C |
13: 49,742,973 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,289 (GRCm39) |
E504D |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,803 (GRCm39) |
|
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,891 (GRCm39) |
F6L |
probably benign |
Het |
| Rab1a |
T |
C |
11: 20,174,717 (GRCm39) |
S97P |
probably benign |
Het |
| Ranbp3l |
G |
A |
15: 9,058,827 (GRCm39) |
G359R |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,094 (GRCm39) |
H3101L |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,946 (GRCm39) |
V623A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,911 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,909,980 (GRCm39) |
D1780G |
probably damaging |
Het |
| Tgm7 |
G |
T |
2: 120,924,106 (GRCm39) |
Y605* |
probably null |
Het |
| Tmem106b |
T |
C |
6: 13,071,968 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
G |
A |
1: 58,965,814 (GRCm39) |
A120V |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 21,007,769 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,057,970 (GRCm39) |
T973A |
probably benign |
Het |
| Ttyh3 |
C |
A |
5: 140,621,829 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
C |
5: 87,390,291 (GRCm39) |
I385S |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,623,773 (GRCm39) |
I155N |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,439,050 (GRCm39) |
Q377* |
probably null |
Het |
| Washc2 |
A |
T |
6: 116,213,150 (GRCm39) |
E570D |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,657,699 (GRCm39) |
V168A |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,788 (GRCm39) |
C169S |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation