Incidental Mutation 'R5536:Usf3'
ID 434847
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 043094-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 43993609-44047828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44037733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 738 (T738A)
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 probably benign
Transcript: ENSMUST00000119746
AA Change: T738A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: T738A

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 benign
Transcript: ENSMUST00000169582
AA Change: T738A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: T738A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A 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
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
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'- CTTTGCAGCCTGTGATGTCC -3'
(R):5'- AAGTGTTTCTTGGCACCTGGC -3'

Sequencing Primer
(F):5'- TCCTCATCAGGAACTACAAATCAAAG -3'
(R):5'- GGCACCTGGCTTCTTGC -3'
Posted On 2016-10-24