Incidental Mutation 'IGL02526:Usf3'
ID297102
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 #IGL02526
Quality Score
Status
Chromosome16
Chromosomal Location44173246-44227465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44220311 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 1718 (A1718D)
Ref Sequence ENSEMBL: ENSMUSP00000128627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119746] [ENSMUST00000169582]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119746
AA Change: A1718D

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: A1718D

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: A1718D

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: A1718D

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S 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
IGL02124:Usf3 APN 16 44219656 missense possibly damaging 0.82
IGL02309:Usf3 APN 16 44200663 missense probably benign 0.20
IGL02454:Usf3 APN 16 44217182 missense probably damaging 1.00
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