Incidental Mutation 'R7625:Cyp2c38'
ID 589423
Institutional Source Beutler Lab
Gene Symbol Cyp2c38
Ensembl Gene ENSMUSG00000032808
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 38
Synonyms
MMRRC Submission 045719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7625 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 39379109-39451519 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39451368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 44 (Q44L)
Ref Sequence ENSEMBL: ENSMUSP00000044722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035488]
AlphaFold P56655
Predicted Effect possibly damaging
Transcript: ENSMUST00000035488
AA Change: Q44L

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: Q44L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:p450 30 487 1.5e-161 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,773,587 (GRCm39) V506E probably damaging Het
Acaa2 G T 18: 74,937,213 (GRCm39) V366F possibly damaging Het
Ago1 G A 4: 126,337,022 (GRCm39) R532C probably benign Het
Ank2 T G 3: 126,846,449 (GRCm39) D182A probably damaging Het
Anxa4 T C 6: 86,714,801 (GRCm39) D302G probably damaging Het
Apoa4 A T 9: 46,154,410 (GRCm39) E337V probably damaging Het
Atf1 A G 15: 100,152,158 (GRCm39) probably null Het
Atp8b3 A C 10: 80,355,980 (GRCm39) V1244G probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camk2a G A 18: 61,085,412 (GRCm39) V132M probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Chd8 G A 14: 52,474,534 (GRCm39) P166S probably benign Het
Chl1 T A 6: 103,706,086 (GRCm39) S1140R probably damaging Het
Clstn3 G T 6: 124,414,377 (GRCm39) S783* probably null Het
Col6a1 A G 10: 76,549,760 (GRCm39) S562P unknown Het
Cpb2 G A 14: 75,509,989 (GRCm39) V250M possibly damaging Het
Dgat1 T C 15: 76,387,395 (GRCm39) M325V possibly damaging Het
Dnah11 T A 12: 118,160,377 (GRCm39) M118L probably benign Het
Dpy19l3 T A 7: 35,452,106 (GRCm39) I13L probably benign Het
Enkd1 A G 8: 106,431,265 (GRCm39) probably null Het
Fam241b A G 10: 61,970,479 (GRCm39) probably benign Het
Fhit T A 14: 9,870,177 (GRCm38) probably null Het
Gp6 T C 7: 4,373,173 (GRCm39) E250G probably benign Het
Hmgb1 T C 5: 148,987,150 (GRCm39) E84G probably benign Het
Hscb T A 5: 110,977,012 (GRCm39) I227F probably damaging Het
Hspg2 T A 4: 137,292,249 (GRCm39) L4047Q probably damaging Het
Hsph1 A G 5: 149,541,901 (GRCm39) L775P probably benign Het
Hydin A T 8: 111,268,476 (GRCm39) S2947C probably benign Het
Intu T C 3: 40,652,029 (GRCm39) S829P probably benign Het
Kcnn3 C A 3: 89,516,977 (GRCm39) T462K probably damaging Het
Kndc1 G A 7: 139,517,930 (GRCm39) C1622Y possibly damaging Het
Lifr T C 15: 7,198,723 (GRCm39) Y318H probably damaging Het
Mier2 A G 10: 79,378,543 (GRCm39) S332P probably damaging Het
Mindy4 T C 6: 55,253,598 (GRCm39) I489T possibly damaging Het
Mmp8 A T 9: 7,566,218 (GRCm39) Q358L probably benign Het
Ms4a4a T A 19: 11,367,728 (GRCm39) probably null Het
Nav1 G C 1: 135,395,483 (GRCm39) S962C probably damaging Het
Nfe2l1 G A 11: 96,710,271 (GRCm39) R653C probably damaging Het
Nherf4 A T 9: 44,161,594 (GRCm39) I95N probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Nrf1 G A 6: 30,116,230 (GRCm39) V301I probably benign Het
Oog1 T C 12: 87,655,082 (GRCm39) F410S probably benign Het
Or52a33 A G 7: 103,289,165 (GRCm39) Y61H probably damaging Het
Or6k4 G A 1: 173,964,733 (GRCm39) C141Y probably benign Het
Pcdhga8 G A 18: 37,859,954 (GRCm39) V337I probably benign Het
Pelp1 G T 11: 70,286,260 (GRCm39) N572K probably benign Het
Pikfyve T C 1: 65,307,036 (GRCm39) V1808A possibly damaging Het
Pirt A C 11: 66,816,769 (GRCm39) S27R probably damaging Het
Pramel20 A T 4: 143,298,821 (GRCm39) I255L probably benign Het
Rgs17 A T 10: 5,791,488 (GRCm39) D96E probably benign Het
Senp1 A G 15: 97,964,679 (GRCm39) F206L probably benign Het
Sh3rf1 T A 8: 61,825,756 (GRCm39) S584T probably benign Het
Tex44 A T 1: 86,354,459 (GRCm39) K123* probably null Het
Tpst2 C A 5: 112,455,887 (GRCm39) T142K probably damaging Het
Ttc28 G A 5: 111,433,085 (GRCm39) G2040R possibly damaging Het
Uggt2 T A 14: 119,263,905 (GRCm39) I1042F probably damaging Het
Vmn2r91 T C 17: 18,325,693 (GRCm39) S104P probably damaging Het
Wdfy3 T C 5: 102,003,252 (GRCm39) probably null Het
Zeb2 G A 2: 44,892,584 (GRCm39) A223V probably damaging Het
Zfp1002 T C 2: 150,096,520 (GRCm39) D303G probably benign Het
Zfp566 A G 7: 29,777,930 (GRCm39) S84P probably benign Het
Zfp994 T A 17: 22,420,736 (GRCm39) H71L possibly damaging Het
Other mutations in Cyp2c38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Cyp2c38 APN 19 39,449,169 (GRCm39) nonsense probably null
IGL01109:Cyp2c38 APN 19 39,451,329 (GRCm39) critical splice donor site probably null
IGL01521:Cyp2c38 APN 19 39,449,114 (GRCm39) missense probably damaging 0.99
IGL02036:Cyp2c38 APN 19 39,448,760 (GRCm39) missense probably null 0.97
IGL02187:Cyp2c38 APN 19 39,424,649 (GRCm39) missense probably benign 0.14
IGL02954:Cyp2c38 APN 19 39,379,520 (GRCm39) missense probably damaging 0.99
R0479:Cyp2c38 UTSW 19 39,451,449 (GRCm39) missense probably damaging 0.99
R0684:Cyp2c38 UTSW 19 39,379,500 (GRCm39) missense probably damaging 0.99
R0919:Cyp2c38 UTSW 19 39,393,113 (GRCm39) missense probably benign 0.07
R1462:Cyp2c38 UTSW 19 39,380,632 (GRCm39) missense probably damaging 0.96
R1462:Cyp2c38 UTSW 19 39,380,632 (GRCm39) missense probably damaging 0.96
R1642:Cyp2c38 UTSW 19 39,390,153 (GRCm39) missense probably damaging 1.00
R1715:Cyp2c38 UTSW 19 39,393,239 (GRCm39) missense probably benign 0.25
R1900:Cyp2c38 UTSW 19 39,426,756 (GRCm39) missense probably benign 0.40
R1954:Cyp2c38 UTSW 19 39,393,131 (GRCm39) missense probably damaging 0.99
R1955:Cyp2c38 UTSW 19 39,393,131 (GRCm39) missense probably damaging 0.99
R2860:Cyp2c38 UTSW 19 39,449,138 (GRCm39) missense probably benign 0.01
R2861:Cyp2c38 UTSW 19 39,449,138 (GRCm39) missense probably benign 0.01
R2862:Cyp2c38 UTSW 19 39,449,138 (GRCm39) missense probably benign 0.01
R3084:Cyp2c38 UTSW 19 39,390,145 (GRCm39) missense probably benign 0.00
R3727:Cyp2c38 UTSW 19 39,380,739 (GRCm39) splice site probably benign
R4648:Cyp2c38 UTSW 19 39,449,132 (GRCm39) missense probably benign 0.05
R5119:Cyp2c38 UTSW 19 39,449,065 (GRCm39) missense probably damaging 1.00
R5636:Cyp2c38 UTSW 19 39,426,750 (GRCm39) nonsense probably null
R5651:Cyp2c38 UTSW 19 39,449,156 (GRCm39) missense probably damaging 0.99
R6263:Cyp2c38 UTSW 19 39,380,659 (GRCm39) missense probably damaging 1.00
R6384:Cyp2c38 UTSW 19 39,380,737 (GRCm39) splice site probably null
R6853:Cyp2c38 UTSW 19 39,426,748 (GRCm39) missense probably benign 0.02
R6915:Cyp2c38 UTSW 19 39,424,512 (GRCm39) missense probably damaging 0.99
R7201:Cyp2c38 UTSW 19 39,390,220 (GRCm39) missense probably damaging 1.00
R7570:Cyp2c38 UTSW 19 39,393,187 (GRCm39) missense possibly damaging 0.76
R7666:Cyp2c38 UTSW 19 39,426,686 (GRCm39) missense possibly damaging 0.52
R8681:Cyp2c38 UTSW 19 39,390,135 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TTACTCTCTTTCTGACAAGTGCCAG -3'
(R):5'- TGCTATAAAAGATCAGTGGTGCC -3'

Sequencing Primer
(F):5'- TTCTGACAAGTGCCAGCTGTAAAAG -3'
(R):5'- AGATCAGTGGTGCCTGATCTCAAC -3'
Posted On 2019-10-24