Incidental Mutation 'IGL02322:Cyp2b19'
ID 288266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2b19
Ensembl Gene ENSMUSG00000066704
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 19
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02322
Quality Score
Status
Chromosome 7
Chromosomal Location 26757142-26772630 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26762378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 208 (S208P)
Ref Sequence ENSEMBL: ENSMUSP00000077021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077855]
AlphaFold O55071
Predicted Effect possibly damaging
Transcript: ENSMUST00000077855
AA Change: S208P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: S208P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:p450 32 489 8.7e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138018
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 105,698,636 A355V probably benign Het
Adam9 A G 8: 24,955,974 V801A probably damaging Het
Ankrd36 T A 11: 5,614,619 V479D possibly damaging Het
Arid5a C T 1: 36,319,416 P423L probably benign Het
Atp13a4 T C 16: 29,440,102 I650V probably benign Het
B4gat1 C A 19: 5,039,127 P51T possibly damaging Het
Caskin2 G A 11: 115,804,477 T310M probably damaging Het
Ccdc121 A G 1: 181,510,434 S318P possibly damaging Het
Ccdc159 G T 9: 21,929,373 V79L possibly damaging Het
Ccser2 A T 14: 36,909,129 V18E probably damaging Het
Cct8l1 T C 5: 25,517,583 V432A probably benign Het
Cdh11 A T 8: 102,647,519 F529Y probably benign Het
Cep250 A G 2: 155,990,328 E1370G probably damaging Het
Col22a1 C A 15: 71,822,653 G717C unknown Het
Csmd2 T C 4: 128,463,727 probably benign Het
Ctrb1 A C 8: 111,689,319 probably null Het
Dnmt3l T A 10: 78,052,738 I158N possibly damaging Het
Evi5l T C 8: 4,187,236 probably benign Het
Fkbpl A G 17: 34,645,324 E22G probably benign Het
Flnb T A 14: 7,894,676 F825I probably damaging Het
Gjb6 A T 14: 57,124,275 N176K probably damaging Het
Gpc2 G T 5: 138,276,237 probably null Het
H1fnt T C 15: 98,256,876 T131A possibly damaging Het
Il20 C T 1: 130,909,576 C104Y probably damaging Het
Mgat5 A G 1: 127,382,985 N212S probably benign Het
Olfm5 C T 7: 104,154,401 G210D probably damaging Het
Olfr1226 T A 2: 89,193,462 T191S probably damaging Het
Olfr1387 A G 11: 49,459,957 S93G probably benign Het
Olig2 T C 16: 91,226,658 S87P probably benign Het
Osbpl7 G T 11: 97,056,124 A418S probably benign Het
Otog G T 7: 46,301,457 R2551L probably benign Het
Oxt A T 2: 130,576,280 N24I probably damaging Het
Pibf1 A G 14: 99,210,983 Y626C probably damaging Het
Plekhh2 A T 17: 84,589,466 K934* probably null Het
Pramef17 G A 4: 143,992,021 probably benign Het
Prdm9 A T 17: 15,562,848 N57K probably damaging Het
Rapsn A G 2: 91,041,906 D195G possibly damaging Het
Rimbp3 T G 16: 17,211,615 F968V probably benign Het
Rpgrip1 A G 14: 52,150,042 N1047S possibly damaging Het
Slc35g1 C T 19: 38,400,565 R107* probably null Het
Ssh2 A C 11: 77,416,413 probably null Het
Tiparp C A 3: 65,532,020 C70* probably null Het
Vmn2r110 A G 17: 20,573,935 I824T probably damaging Het
Vmn2r78 T C 7: 86,921,479 S402P probably damaging Het
Vps13c A G 9: 67,937,901 E2089G probably benign Het
Xirp2 A T 2: 67,508,738 H441L probably benign Het
Zdhhc3 C T 9: 123,100,477 G31D probably benign Het
Zfp330 A G 8: 82,770,821 L64S probably damaging Het
Other mutations in Cyp2b19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Cyp2b19 APN 7 26763461 missense possibly damaging 0.91
IGL01338:Cyp2b19 APN 7 26759417 missense probably benign 0.09
IGL01374:Cyp2b19 APN 7 26759079 missense probably benign 0.06
IGL01613:Cyp2b19 APN 7 26763461 missense possibly damaging 0.91
IGL01695:Cyp2b19 APN 7 26759064 missense probably damaging 1.00
IGL03077:Cyp2b19 APN 7 26762384 missense probably benign
R0047:Cyp2b19 UTSW 7 26766826 missense probably benign 0.01
R0047:Cyp2b19 UTSW 7 26766826 missense probably benign 0.01
R0452:Cyp2b19 UTSW 7 26766762 missense probably benign 0.01
R0865:Cyp2b19 UTSW 7 26762229 splice site probably benign
R1514:Cyp2b19 UTSW 7 26767160 missense probably benign 0.00
R1681:Cyp2b19 UTSW 7 26763340 splice site probably null
R2362:Cyp2b19 UTSW 7 26764377 missense probably damaging 1.00
R4015:Cyp2b19 UTSW 7 26762343 missense probably damaging 1.00
R4259:Cyp2b19 UTSW 7 26763382 missense probably damaging 1.00
R4592:Cyp2b19 UTSW 7 26771394 missense probably benign 0.04
R4705:Cyp2b19 UTSW 7 26757292 missense probably benign 0.03
R4789:Cyp2b19 UTSW 7 26764376 missense probably benign 0.16
R5481:Cyp2b19 UTSW 7 26766821 missense probably damaging 0.99
R5749:Cyp2b19 UTSW 7 26763419 missense possibly damaging 0.84
R6041:Cyp2b19 UTSW 7 26759427 missense probably damaging 1.00
R6170:Cyp2b19 UTSW 7 26759094 missense possibly damaging 0.80
R6259:Cyp2b19 UTSW 7 26771392 missense possibly damaging 0.91
R6370:Cyp2b19 UTSW 7 26763358 missense probably benign 0.07
R6519:Cyp2b19 UTSW 7 26759111 missense probably benign
R6656:Cyp2b19 UTSW 7 26766855 missense probably benign
R7283:Cyp2b19 UTSW 7 26766914 missense probably damaging 1.00
R7583:Cyp2b19 UTSW 7 26759064 missense probably damaging 1.00
R7686:Cyp2b19 UTSW 7 26762343 missense probably damaging 1.00
R7732:Cyp2b19 UTSW 7 26771344 missense possibly damaging 0.67
R7831:Cyp2b19 UTSW 7 26767140 missense possibly damaging 0.80
R8035:Cyp2b19 UTSW 7 26771250 missense probably damaging 1.00
R8853:Cyp2b19 UTSW 7 26757220 missense possibly damaging 0.53
R9574:Cyp2b19 UTSW 7 26766927 missense probably damaging 1.00
R9574:Cyp2b19 UTSW 7 26766928 missense probably null 1.00
R9650:Cyp2b19 UTSW 7 26766783 missense possibly damaging 0.85
R9681:Cyp2b19 UTSW 7 26766903 missense probably benign 0.00
Posted On 2015-04-16