Incidental Mutation 'R5058:Usf3'
ID 391057
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 042648-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 43993609-44047828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44033070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 76 (L76P)
Ref Sequence ENSEMBL: ENSMUSP00000128627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088356] [ENSMUST00000119746] [ENSMUST00000169582]
AlphaFold B2RUQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000088356
AA Change: L76P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085694
Gene: ENSMUSG00000068284
AA Change: L76P

DomainStartEndE-ValueType
HLH 24 75 4.26e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119746
AA Change: L76P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: L76P

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 probably damaging
Transcript: ENSMUST00000169582
AA Change: L76P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: L76P

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 0.2776 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging 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
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
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'- TGACACATAGCAAACGGTTAGTTG -3'
(R):5'- CAGCTACAATGATCTCATTTGCAATGC -3'

Sequencing Primer
(F):5'- AGCAAACGGTTAGTTGCTTAATAG -3'
(R):5'- GCAATGCTTTCTCCTGCGGTG -3'
Posted On 2016-06-06