Incidental Mutation 'R4024:Usf3'
ID 475291
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 041612-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R4024 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 43993609-44047828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44036528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 336 (V336E)
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

DomainStartEndE-ValueType
HLH 24 75 4.26e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119746
AA Change: V336E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: V336E

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: V336E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: V336E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,215,251 (GRCm39) Y842H probably damaging Het
Adamts9 A G 6: 92,849,765 (GRCm39) probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Armc2 A G 10: 41,869,054 (GRCm39) S37P probably benign Het
Bhmt2 G A 13: 93,799,839 (GRCm39) probably benign Het
Bpifb1 A T 2: 154,054,966 (GRCm39) D286V probably damaging Het
Cadps T A 14: 12,705,539 (GRCm38) E285D probably damaging Het
Cap2 C T 13: 46,791,317 (GRCm39) probably benign Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Cmip A G 8: 118,174,155 (GRCm39) I412V possibly damaging Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dzank1 T C 2: 144,324,147 (GRCm39) S565G probably benign Het
Eef2k A G 7: 120,457,821 (GRCm39) Y60C probably benign Het
Fbxl4 T C 4: 22,377,074 (GRCm39) V170A possibly damaging Het
Foxk2 T A 11: 121,176,439 (GRCm39) I195N possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gpr6 G A 10: 40,947,264 (GRCm39) T106M probably damaging Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Hnmt T C 2: 23,893,777 (GRCm39) D239G probably benign Het
Igf2 A G 7: 142,208,044 (GRCm39) V111A probably benign Het
Lrriq3 G A 3: 154,893,939 (GRCm39) E547K probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Mroh8 A G 2: 157,098,272 (GRCm39) V292A probably benign Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nisch A G 14: 30,898,776 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,026,154 (GRCm39) T195A probably benign Het
Or10aa3 C T 1: 173,878,683 (GRCm39) T248I probably benign Het
Or2t47 G A 11: 58,442,222 (GRCm39) T281I possibly damaging Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Or8w1 T A 2: 87,465,499 (GRCm39) L197F probably damaging Het
Plekhn1 A G 4: 156,309,207 (GRCm39) V233A probably damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sash1 T C 10: 8,605,681 (GRCm39) D903G probably benign Het
Scn8a A G 15: 100,937,674 (GRCm39) D1681G probably damaging Het
Slk A G 19: 47,610,809 (GRCm39) probably null Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tlr11 C T 14: 50,600,303 (GRCm39) T763I probably benign Het
Ttbk2 T C 2: 120,590,736 (GRCm39) T308A possibly damaging Het
Tyk2 G A 9: 21,027,215 (GRCm39) L552F probably damaging Het
Ubp1 A G 9: 113,773,951 (GRCm39) D50G probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A T 9: 120,873,915 (GRCm39) I1172N possibly damaging Het
Vangl2 T C 1: 171,835,608 (GRCm39) S355G probably benign Het
Vmn1r216 A G 13: 23,284,061 (GRCm39) D248G probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vsig10l T C 7: 43,117,510 (GRCm39) V701A probably benign Het
Wdfy3 A G 5: 102,071,961 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,544 (GRCm39) C258S possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Usf3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2017-04-14