Incidental Mutation 'R4895:Usf3'
ID 377595
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 042499-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 43993609-44047828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44041459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1980 (S1980R)
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: S1980R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S1980R

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 possibly damaging
Transcript: ENSMUST00000169582
AA Change: S1980R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S1980R

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
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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
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 PCR Primer
(F):5'- ACATCCAACATGCATGGGG -3'
(R):5'- TGCCACCCTCAGGAATAAAAGG -3'

Sequencing Primer
(F):5'- GTTGCAAGGCCAACTTTGC -3'
(R):5'- CCGAAATTTTGTGACAGTGAATGCTG -3'
Posted On 2016-03-17