Incidental Mutation 'IGL03088:Cyb5rl'
ID418230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5rl
Ensembl Gene ENSMUSG00000028621
Gene Namecytochrome b5 reductase-like
Synonyms2810410C14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL03088
Quality Score
Status
Chromosome4
Chromosomal Location107066988-107088268 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 107081028 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 12 (Y12*)
Ref Sequence ENSEMBL: ENSMUSP00000123206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000127916] [ENSMUST00000137269] [ENSMUST00000149453]
Predicted Effect probably null
Transcript: ENSMUST00000030364
AA Change: Y192*
SMART Domains Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: Y192*

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 15 56 1e-10 PFAM
Pfam:FAD_binding_6 80 156 2.3e-11 PFAM
Pfam:NAD_binding_1 152 266 1.8e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106756
AA Change: Y167*
SMART Domains Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: Y167*

DomainStartEndE-ValueType
Pfam:FAD_binding_6 20 117 4.7e-23 PFAM
Pfam:NAD_binding_1 127 241 3.2e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106758
AA Change: Y227*
SMART Domains Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: Y227*

DomainStartEndE-ValueType
Pfam:Oxidored-like 10 55 1.7e-15 PFAM
Pfam:FAD_binding_6 80 177 8.2e-25 PFAM
Pfam:NAD_binding_1 187 301 8.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106760
SMART Domains Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 15 56 2.5e-14 PFAM
Pfam:FAD_binding_6 80 156 3.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126207
SMART Domains Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
Pfam:Oxidored-like 4 49 1.3e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127916
AA Change: Y12*
Predicted Effect probably benign
Transcript: ENSMUST00000137269
SMART Domains Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
Pfam:FAD_binding_6 13 110 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149453
SMART Domains Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156406
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,293,384 L299R unknown Het
5330417C22Rik A G 3: 108,536,358 W31R probably damaging Het
8030411F24Rik A T 2: 148,783,407 H87L possibly damaging Het
Abca9 T G 11: 110,144,261 R693S probably benign Het
Adamts20 A T 15: 94,329,914 probably null Het
Afg1l T A 10: 42,426,497 D169V probably damaging Het
Agbl1 T A 7: 76,720,142 M663K probably benign Het
Angpt2 T A 8: 18,741,023 I86F probably benign Het
Ankrd2 G A 19: 42,041,985 E160K probably null Het
As3mt G T 19: 46,707,794 V14F probably damaging Het
Atp6v0a2 T C 5: 124,714,107 probably benign Het
Atp6v0d1 T A 8: 105,530,959 I113F probably damaging Het
Bank1 A G 3: 136,093,362 I406T probably damaging Het
BC053393 C A 11: 46,584,417 F146L probably benign Het
Bicdl1 A G 5: 115,663,822 V59A possibly damaging Het
Brsk1 A G 7: 4,710,454 probably benign Het
Cdh17 T A 4: 11,810,473 N721K probably damaging Het
Cercam A G 2: 29,881,687 probably benign Het
Clpb T A 7: 101,785,449 L484* probably null Het
Creb3l1 T A 2: 91,995,394 M127L probably benign Het
Ctla2b A C 13: 60,896,060 D122E probably damaging Het
Dennd5a T C 7: 109,908,381 Y800C probably damaging Het
Dmrt3 T G 19: 25,623,047 S419A probably benign Het
Fbxo38 A G 18: 62,522,472 V381A possibly damaging Het
Flg2 A T 3: 93,203,191 H842L unknown Het
Fn1 A T 1: 71,614,038 probably null Het
Fos A C 12: 85,475,856 T181P possibly damaging Het
Fzd10 A G 5: 128,602,605 Y463C possibly damaging Het
Gprc5b T C 7: 118,983,633 M338V probably benign Het
Gsta4 T C 9: 78,206,063 probably benign Het
Gstm2 T A 3: 107,986,046 T34S probably benign Het
Haspin C T 11: 73,136,625 R546Q probably damaging Het
Itgad G A 7: 128,203,032 R958H probably benign Het
Kansl1l A T 1: 66,735,725 H647Q probably damaging Het
Kif5c A C 2: 49,744,443 R762S probably benign Het
Klf4 A G 4: 55,530,811 L50P probably damaging Het
Klf4 C A 4: 55,530,758 A68S possibly damaging Het
Kmt2c T C 5: 25,299,804 E3502G probably damaging Het
Krt8 A G 15: 102,000,587 I202T possibly damaging Het
Lmcd1 A T 6: 112,310,688 T112S probably damaging Het
Lpxn T C 19: 12,833,211 C340R probably damaging Het
Man2a2 C T 7: 80,359,334 V844M possibly damaging Het
Map10 G A 8: 125,671,070 E401K probably benign Het
Mark4 A T 7: 19,451,584 L75Q probably damaging Het
Mlf2 T G 6: 124,933,982 M81R probably damaging Het
Mup3 A G 4: 62,086,842 I67T probably damaging Het
Mycbpap T C 11: 94,513,943 probably null Het
Myt1l T C 12: 29,920,477 V1185A probably benign Het
Ncoa7 C T 10: 30,698,125 probably null Het
Nos1 C A 5: 117,867,258 N14K probably damaging Het
Nova2 G T 7: 18,950,569 V116F unknown Het
Obox3 G A 7: 15,627,002 probably benign Het
Olfr110 A G 17: 37,498,648 probably benign Het
Olfr239 A T 17: 33,199,560 T171S probably benign Het
Olfr325 T A 11: 58,581,827 probably benign Het
Olfr914 A T 9: 38,607,301 S279C probably damaging Het
P2rx5 T A 11: 73,165,620 probably benign Het
Parvb T A 15: 84,308,843 probably benign Het
Popdc2 A T 16: 38,373,822 T202S probably damaging Het
Ppm1j T A 3: 104,785,409 Y411* probably null Het
Rapgefl1 C A 11: 98,849,232 L484M probably damaging Het
Sept14 A G 5: 129,697,733 probably benign Het
Slf1 A G 13: 77,084,435 C517R probably damaging Het
Smyd3 A G 1: 179,094,333 probably null Het
Snx9 A G 17: 5,924,610 T458A probably benign Het
Srgap1 T C 10: 121,825,693 D514G possibly damaging Het
Tbc1d14 A G 5: 36,524,964 S311P probably damaging Het
Tmem150c T G 5: 100,086,217 K91N probably damaging Het
Traf3 T A 12: 111,261,843 M471K probably damaging Het
Tubd1 G T 11: 86,552,999 G178C probably damaging Het
Vav2 T C 2: 27,267,250 K847E possibly damaging Het
Vmn2r100 A T 17: 19,522,039 H225L probably benign Het
Wrn A T 8: 33,268,823 probably benign Het
Xpo7 T G 14: 70,681,262 S710R probably benign Het
Zfp780b C T 7: 27,962,992 V713I possibly damaging Het
Zkscan17 A T 11: 59,487,766 I197N probably damaging Het
Other mutations in Cyb5rl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Cyb5rl APN 4 107084296 missense probably benign 0.21
IGL01350:Cyb5rl APN 4 107084212 missense possibly damaging 0.77
IGL02418:Cyb5rl APN 4 107070985 missense probably damaging 1.00
IGL02746:Cyb5rl APN 4 107068639 missense probably benign 0.12
IGL03279:Cyb5rl APN 4 107084128 missense possibly damaging 0.95
R1301:Cyb5rl UTSW 4 107080907 missense probably damaging 1.00
R1731:Cyb5rl UTSW 4 107080913 missense probably damaging 1.00
R2091:Cyb5rl UTSW 4 107071006 missense probably damaging 1.00
R2165:Cyb5rl UTSW 4 107068683 missense probably damaging 1.00
R2504:Cyb5rl UTSW 4 107080945 missense probably benign 0.01
R4223:Cyb5rl UTSW 4 107080988 missense probably damaging 0.97
R4851:Cyb5rl UTSW 4 107084313 missense probably benign 0.39
R4964:Cyb5rl UTSW 4 107069132 intron probably benign
R5797:Cyb5rl UTSW 4 107084207 missense possibly damaging 0.69
R6575:Cyb5rl UTSW 4 107085353 missense probably benign 0.20
R6688:Cyb5rl UTSW 4 107073905 missense probably damaging 0.99
R6986:Cyb5rl UTSW 4 107070876 missense probably benign 0.18
Posted On2016-08-02