Incidental Mutation 'R5564:Usp38'
ID 436747
Institutional Source Beutler Lab
Gene Symbol Usp38
Ensembl Gene ENSMUSG00000038250
Gene Name ubiquitin specific peptidase 38
Synonyms 4833420O05Rik, 4631402N15Rik
MMRRC Submission 043121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5564 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81707362-81741557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81711717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 773 (K773E)
Ref Sequence ENSEMBL: ENSMUSP00000039943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042724]
AlphaFold Q8BW70
Predicted Effect probably damaging
Transcript: ENSMUST00000042724
AA Change: K773E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: K773E

DomainStartEndE-ValueType
SCOP:d1gw5a_ 1 365 5e-3 SMART
Pfam:UCH 444 946 1.8e-47 PFAM
Pfam:UCH_1 445 921 2.2e-23 PFAM
low complexity region 995 1006 N/A INTRINSIC
low complexity region 1019 1033 N/A INTRINSIC
Meta Mutation Damage Score 0.2427 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,513 (GRCm39) V322A probably benign Het
Abca8b G T 11: 109,825,407 (GRCm39) L1598M probably benign Het
Adam4 T C 12: 81,466,348 (GRCm39) T758A probably benign Het
B3galnt2 T C 13: 14,169,814 (GRCm39) I424T probably damaging Het
Cacna1g T C 11: 94,321,312 (GRCm39) Y1316C probably damaging Het
Cacna2d1 T C 5: 16,517,517 (GRCm39) S388P probably damaging Het
Ccdc157 A G 11: 4,098,765 (GRCm39) L247S probably damaging Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cdhr3 G T 12: 33,098,985 (GRCm39) Y535* probably null Het
Clasp2 T C 9: 113,641,836 (GRCm39) probably null Het
Col16a1 T A 4: 129,947,151 (GRCm39) D165E probably damaging Het
Col9a1 A T 1: 24,234,436 (GRCm39) probably benign Het
Cpa3 A T 3: 20,296,307 (GRCm39) I10N possibly damaging Het
Cstf3 T A 2: 104,439,347 (GRCm39) probably benign Het
Dnah3 C A 7: 119,570,689 (GRCm39) probably null Het
E2f6 T C 12: 16,874,706 (GRCm39) C263R probably benign Het
Eps8l2 C A 7: 140,936,534 (GRCm39) Q288K possibly damaging Het
Fam193a T A 5: 34,578,199 (GRCm39) V231D probably damaging Het
Gjd3 C T 11: 102,691,029 (GRCm39) G325S probably benign Het
Gpatch8 T A 11: 102,429,111 (GRCm39) E39D unknown Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Kansl3 G T 1: 36,385,045 (GRCm39) H629N possibly damaging Het
Kcna10 C A 3: 107,101,545 (GRCm39) H59N probably benign Het
Kitl A T 10: 99,915,886 (GRCm39) E138D possibly damaging Het
Kpna2 T C 11: 106,881,571 (GRCm39) K353R probably damaging Het
M1ap T A 6: 82,958,798 (GRCm39) I143N probably damaging Het
Macf1 A G 4: 123,420,538 (GRCm39) S239P possibly damaging Het
Med13l T A 5: 118,880,105 (GRCm39) S1066T probably damaging Het
Mettl23 G T 11: 116,739,865 (GRCm39) E47* probably null Het
Or52i2 T C 7: 102,319,433 (GRCm39) F102S probably damaging Het
Or5af1 C T 11: 58,722,039 (GRCm39) Q20* probably null Het
Proca1 T A 11: 78,092,699 (GRCm39) D48E possibly damaging Het
Rab34 T G 11: 78,082,458 (GRCm39) V227G probably damaging Het
Rab7 A T 6: 87,990,632 (GRCm39) L14Q probably damaging Het
Rasgef1c C T 11: 49,847,934 (GRCm39) S23F probably benign Het
Rit1 A G 3: 88,633,457 (GRCm39) probably benign Het
Scin T C 12: 40,174,568 (GRCm39) T172A probably benign Het
Scmh1 C A 4: 120,325,575 (GRCm39) N97K probably damaging Het
Skint6 T C 4: 112,846,162 (GRCm39) E655G possibly damaging Het
Slc22a15 A G 3: 101,771,905 (GRCm39) V243A probably benign Het
Smg1 A G 7: 117,789,042 (GRCm39) probably benign Het
Smim7 C T 8: 73,324,867 (GRCm39) G3R probably damaging Het
Snurf C T 7: 59,645,282 (GRCm39) R44H possibly damaging Het
Snx13 G A 12: 35,174,471 (GRCm39) A667T possibly damaging Het
Sowaha T G 11: 53,369,590 (GRCm39) H382P probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem259 G T 10: 79,814,442 (GRCm39) probably null Het
Topbp1 A G 9: 103,211,277 (GRCm39) T945A probably damaging Het
Tor1aip2 T C 1: 155,939,307 (GRCm39) probably benign Het
Ube3b T C 5: 114,527,136 (GRCm39) V118A probably damaging Het
Wnk1 G A 6: 119,925,852 (GRCm39) probably benign Het
Zfp871 A G 17: 32,994,842 (GRCm39) V111A possibly damaging Het
Other mutations in Usp38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Usp38 APN 8 81,740,469 (GRCm39) missense probably damaging 0.99
IGL01373:Usp38 APN 8 81,716,647 (GRCm39) missense possibly damaging 0.80
IGL02089:Usp38 APN 8 81,712,343 (GRCm39) missense possibly damaging 0.48
IGL02528:Usp38 APN 8 81,719,864 (GRCm39) missense probably damaging 1.00
IGL02538:Usp38 APN 8 81,712,187 (GRCm39) missense probably damaging 1.00
IGL02615:Usp38 APN 8 81,711,780 (GRCm39) missense probably benign 0.00
IGL03340:Usp38 APN 8 81,738,905 (GRCm39) missense probably damaging 1.00
P0033:Usp38 UTSW 8 81,708,525 (GRCm39) missense probably benign 0.12
R0313:Usp38 UTSW 8 81,711,071 (GRCm39) nonsense probably null
R0331:Usp38 UTSW 8 81,722,469 (GRCm39) missense probably benign 0.00
R0497:Usp38 UTSW 8 81,711,053 (GRCm39) splice site probably benign
R0594:Usp38 UTSW 8 81,731,995 (GRCm39) missense probably damaging 0.97
R0632:Usp38 UTSW 8 81,740,779 (GRCm39) missense probably benign 0.03
R1355:Usp38 UTSW 8 81,711,662 (GRCm39) missense possibly damaging 0.61
R1500:Usp38 UTSW 8 81,722,399 (GRCm39) missense probably damaging 1.00
R1566:Usp38 UTSW 8 81,711,432 (GRCm39) missense probably benign 0.00
R1880:Usp38 UTSW 8 81,727,695 (GRCm39) missense probably damaging 1.00
R4161:Usp38 UTSW 8 81,719,967 (GRCm39) missense probably damaging 1.00
R4176:Usp38 UTSW 8 81,719,928 (GRCm39) missense probably benign 0.33
R4882:Usp38 UTSW 8 81,708,606 (GRCm39) nonsense probably null
R5344:Usp38 UTSW 8 81,712,392 (GRCm39) missense possibly damaging 0.76
R5481:Usp38 UTSW 8 81,719,952 (GRCm39) missense possibly damaging 0.89
R5897:Usp38 UTSW 8 81,732,082 (GRCm39) missense probably benign 0.03
R6111:Usp38 UTSW 8 81,740,551 (GRCm39) missense probably damaging 1.00
R6746:Usp38 UTSW 8 81,740,920 (GRCm39) missense possibly damaging 0.80
R6912:Usp38 UTSW 8 81,719,958 (GRCm39) missense probably damaging 1.00
R7051:Usp38 UTSW 8 81,727,750 (GRCm39) missense possibly damaging 0.50
R7483:Usp38 UTSW 8 81,741,190 (GRCm39) start gained probably benign
R7525:Usp38 UTSW 8 81,740,875 (GRCm39) missense probably damaging 1.00
R7565:Usp38 UTSW 8 81,708,601 (GRCm39) missense probably damaging 1.00
R7915:Usp38 UTSW 8 81,727,712 (GRCm39) missense probably damaging 1.00
R7934:Usp38 UTSW 8 81,711,077 (GRCm39) missense probably damaging 1.00
R7988:Usp38 UTSW 8 81,740,945 (GRCm39) missense probably benign 0.01
R8062:Usp38 UTSW 8 81,711,218 (GRCm39) missense probably damaging 1.00
R8340:Usp38 UTSW 8 81,712,031 (GRCm39) missense probably benign
R8514:Usp38 UTSW 8 81,712,346 (GRCm39) missense probably benign 0.01
R8919:Usp38 UTSW 8 81,708,479 (GRCm39) missense probably damaging 1.00
R9119:Usp38 UTSW 8 81,711,228 (GRCm39) missense probably damaging 1.00
R9664:Usp38 UTSW 8 81,741,164 (GRCm39) start gained probably benign
RF016:Usp38 UTSW 8 81,740,522 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGGCAGAAAGCTTCTTCAG -3'
(R):5'- TCAGTAAAGATGTACCTCAGAACCC -3'

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