Incidental Mutation 'R6122:Usf3'
| ID |
485799 |
| 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 |
044269-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R6122 (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 44037670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 717
(I717L)
|
| 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: I717L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: I717L
| 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: I717L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: I717L
| 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 |
0.1110 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
| Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
| Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
| Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
| Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
| Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
| Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
| Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
| Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
| Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
| Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
| Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
| Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
| Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
| Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
| Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
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 |
|
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'- AGCCCCACAGACTTTTGGAG -3'
(R):5'- AGGAAGCTGTTGCAAGACTG -3'
Sequencing Primer
(F):5'- TTGGAGGAAAGCATCTTGTCCAC -3'
(R):5'- GCTGTTGCAAGACTGTAAGTAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation