Incidental Mutation 'IGL02124:Usf3'
ID280749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usf3
Ensembl Gene ENSMUSG00000068284
Gene Nameupstream transcription factor family member 3
SynonymsLOC207806, Gm608, LOC385650, 5530400K22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.370) question?
Stock #IGL02124
Quality Score
Status
Chromosome16
Chromosomal Location44173246-44227465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44219656 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 1500 (Q1500K)
Ref Sequence ENSEMBL: ENSMUSP00000128627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119746] [ENSMUST00000169582]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119746
AA Change: Q1500K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: Q1500K

DomainStartEndE-ValueType
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: Q1500K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: Q1500K

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,186,734 R182G possibly damaging Het
Casd1 A T 6: 4,624,142 I312F probably benign Het
Cdc27 T C 11: 104,522,731 T395A probably damaging Het
Cep152 A G 2: 125,563,461 I1717T probably benign Het
Ces1f A T 8: 93,265,860 V321E possibly damaging Het
Chrnb3 T C 8: 27,396,804 probably benign Het
Col14a1 T A 15: 55,463,703 F1416L unknown Het
Cplx4 T C 18: 65,970,052 probably benign Het
Cubn A T 2: 13,381,837 I1539N probably damaging Het
Dapk1 A G 13: 60,730,882 T562A probably benign Het
Dnmt1 C A 9: 20,908,549 V1433F probably damaging Het
Dytn A G 1: 63,641,092 L436P probably damaging Het
Evpl T C 11: 116,227,015 I783V probably benign Het
Fat4 T A 3: 38,888,404 V482E probably damaging Het
Fcrlb T A 1: 170,907,358 E400V probably benign Het
Folh1 T C 7: 86,725,418 D656G probably damaging Het
Frem3 A C 8: 80,613,094 D672A probably damaging Het
G3bp2 A G 5: 92,073,247 M3T possibly damaging Het
Gm973 C T 1: 59,582,473 Q26* probably null Het
Hsp90b1 T C 10: 86,705,358 probably benign Het
Hspg2 G A 4: 137,518,814 probably null Het
Lpin3 T C 2: 160,895,833 probably null Het
Mtss1l G A 8: 110,737,624 R295Q probably damaging Het
Muc5b G T 7: 141,855,632 W1151L unknown Het
Myo3a A G 2: 22,577,526 Y264C probably benign Het
Olfr1230 A G 2: 89,297,063 V69A probably benign Het
Olfr484 T A 7: 108,125,042 I74L probably benign Het
Olfr543 T C 7: 102,477,535 T112A possibly damaging Het
Pecam1 C T 11: 106,690,981 G380S probably damaging Het
Phf21a C T 2: 92,349,422 T345I probably damaging Het
Polg G A 7: 79,459,737 S444L probably damaging Het
Prickle1 A G 15: 93,503,146 Y486H probably damaging Het
Scg5 G A 2: 113,792,037 probably benign Het
Sept5 G T 16: 18,624,829 D123E probably damaging Het
Skint6 G A 4: 113,087,796 T483I probably benign Het
Tep1 A T 14: 50,854,124 probably benign Het
Tepsin T C 11: 120,091,721 R440G probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trpm4 A T 7: 45,310,523 V649E probably damaging Het
Vmn1r231 T C 17: 20,890,306 S116G probably damaging Het
Vmn1r45 T A 6: 89,933,053 I312L probably benign Het
Other mutations in Usf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Usf3 APN 16 44212637 splice site probably null
IGL01971:Usf3 APN 16 44217446 unclassified probably null
IGL01982:Usf3 APN 16 44218817 missense possibly damaging 0.89
IGL02309:Usf3 APN 16 44200663 missense probably benign 0.20
IGL02454:Usf3 APN 16 44217182 missense probably damaging 1.00
IGL02526:Usf3 APN 16 44220311 missense possibly damaging 0.89
IGL02671:Usf3 APN 16 44221781 missense probably damaging 1.00
IGL02800:Usf3 APN 16 44219096 missense probably benign 0.00
IGL02899:Usf3 APN 16 44221226 missense probably damaging 1.00
IGL03223:Usf3 APN 16 44216450 missense probably damaging 1.00
I1329:Usf3 UTSW 16 44220530 missense probably damaging 1.00
R0208:Usf3 UTSW 16 44216906 missense probably damaging 0.98
R0900:Usf3 UTSW 16 44215958 missense probably benign
R1160:Usf3 UTSW 16 44218547 missense probably damaging 1.00
R1417:Usf3 UTSW 16 44217449 missense probably benign 0.00
R1512:Usf3 UTSW 16 44221198 missense probably damaging 1.00
R1603:Usf3 UTSW 16 44218172 missense probably benign
R1702:Usf3 UTSW 16 44219632 nonsense probably null
R1774:Usf3 UTSW 16 44215670 missense probably damaging 1.00
R2344:Usf3 UTSW 16 44216051 missense probably benign
R2400:Usf3 UTSW 16 44215747 missense probably benign 0.04
R2484:Usf3 UTSW 16 44220682 missense probably damaging 0.99
R2570:Usf3 UTSW 16 44216381 missense probably benign 0.00
R3730:Usf3 UTSW 16 44218575 missense probably benign 0.00
R4024:Usf3 UTSW 16 44216165 missense possibly damaging 0.76
R4451:Usf3 UTSW 16 44217888 missense possibly damaging 0.76
R4883:Usf3 UTSW 16 44219579 missense probably damaging 1.00
R4895:Usf3 UTSW 16 44221096 missense possibly damaging 0.93
R4924:Usf3 UTSW 16 44217355 missense probably benign
R5020:Usf3 UTSW 16 44215526 missense probably damaging 1.00
R5034:Usf3 UTSW 16 44216399 missense probably damaging 1.00
R5053:Usf3 UTSW 16 44217187 missense probably benign 0.01
R5058:Usf3 UTSW 16 44212707 missense probably damaging 1.00
R5164:Usf3 UTSW 16 44218180 missense probably damaging 1.00
R5391:Usf3 UTSW 16 44217463 missense probably benign 0.01
R5407:Usf3 UTSW 16 44217406 missense probably benign 0.01
R5536:Usf3 UTSW 16 44217370 missense probably benign 0.16
R5805:Usf3 UTSW 16 44220746 missense possibly damaging 0.50
R5966:Usf3 UTSW 16 44220859 missense probably benign 0.14
R6024:Usf3 UTSW 16 44219840 missense probably damaging 1.00
R6122:Usf3 UTSW 16 44217307 missense probably damaging 0.99
R6180:Usf3 UTSW 16 44221105 missense probably damaging 1.00
R6362:Usf3 UTSW 16 44218577 missense probably benign 0.01
R6579:Usf3 UTSW 16 44218834 missense possibly damaging 0.54
R6874:Usf3 UTSW 16 44219740 missense probably benign 0.00
X0057:Usf3 UTSW 16 44220784 missense probably benign 0.32
X0066:Usf3 UTSW 16 44220427 missense probably benign 0.00
Posted On2015-04-16