Incidental Mutation 'R4176:Usp38'
ID 319514
Institutional Source Beutler Lab
Gene Symbol Usp38
Ensembl Gene ENSMUSG00000038250
Gene Name ubiquitin specific peptidase 38
Synonyms 4833420O05Rik, 4631402N15Rik
MMRRC Submission 041014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4176 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 81707362-81741557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81719928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 434 (S434A)
Ref Sequence ENSEMBL: ENSMUSP00000039943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042724]
AlphaFold Q8BW70
Predicted Effect probably benign
Transcript: ENSMUST00000042724
AA Change: S434A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: S434A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211538
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,522,000 (GRCm39) E1274G possibly damaging Het
Abi3bp A G 16: 56,472,563 (GRCm39) E424G probably damaging Het
Ankrd10 A G 8: 11,662,644 (GRCm39) I363T probably benign Het
Ankrd12 A T 17: 66,334,361 (GRCm39) N204K probably damaging Het
Brca2 C A 5: 150,463,098 (GRCm39) S954* probably null Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Dagla G T 19: 10,240,461 (GRCm39) D256E probably damaging Het
Dsg2 T A 18: 20,713,720 (GRCm39) F230L probably benign Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Emilin2 A T 17: 71,581,258 (GRCm39) D489E probably benign Het
Entrep3 T C 3: 89,091,754 (GRCm39) V87A probably damaging Het
Ermp1 A G 19: 29,623,365 (GRCm39) probably null Het
Fam149a A G 8: 45,794,321 (GRCm39) Y614H probably benign Het
Fnbp1 T C 2: 30,926,131 (GRCm39) probably null Het
Gabrb3 T C 7: 57,241,061 (GRCm39) F13S probably benign Het
Hydin G A 8: 111,320,452 (GRCm39) A4499T probably benign Het
Islr2 A T 9: 58,107,183 (GRCm39) C26S probably damaging Het
Jup T A 11: 100,263,287 (GRCm39) D696V probably benign Het
Kcnq5 A C 1: 21,605,392 (GRCm39) V171G probably damaging Het
Kntc1 T G 5: 123,914,680 (GRCm39) S667A possibly damaging Het
Loxhd1 A G 18: 77,418,755 (GRCm39) T293A possibly damaging Het
Lrp1b C A 2: 41,298,405 (GRCm39) C138F probably damaging Het
Lrrc37 T A 11: 103,427,426 (GRCm39) H1388L unknown Het
Mctp2 A G 7: 71,909,085 (GRCm39) I76T probably benign Het
Or2z8 A G 8: 72,812,028 (GRCm39) Y168C probably damaging Het
Or5k16 T C 16: 58,736,947 (GRCm39) D19G probably benign Het
Pbx1 A G 1: 168,018,841 (GRCm39) probably null Het
Pelp1 A T 11: 70,287,693 (GRCm39) W410R probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pkd1 T C 17: 24,806,971 (GRCm39) L3482P probably benign Het
Plekhn1 C T 4: 156,306,258 (GRCm39) G604E probably benign Het
Ptpn22 A G 3: 103,793,561 (GRCm39) T571A probably benign Het
Qrsl1 A T 10: 43,760,828 (GRCm39) S252T probably damaging Het
Rab3gap2 T A 1: 184,978,863 (GRCm39) M280K probably damaging Het
Serpinh1 T C 7: 98,996,206 (GRCm39) M293V probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a8 T A 17: 28,866,973 (GRCm39) E585D probably benign Het
Slc34a2 T G 5: 53,224,910 (GRCm39) C350W probably damaging Het
Slit2 T A 5: 48,394,586 (GRCm39) probably null Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Trpm7 T C 2: 126,671,083 (GRCm39) K633R possibly damaging Het
Zbtb16 A G 9: 48,571,101 (GRCm39) F555S probably damaging Het
Zfp141 A T 7: 42,125,705 (GRCm39) S256T probably benign 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
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
R5564:Usp38 UTSW 8 81,711,717 (GRCm39) missense probably damaging 0.96
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'- ACTTACGCTGCTTACACGG -3'
(R):5'- TCAAATGTCAGTAGGGAAGTCC -3'

Sequencing Primer
(F):5'- AGCAGGGACGATTCTCTCCTC -3'
(R):5'- CTTTCCTAAGCCCAGTGA -3'
Posted On 2015-06-10