Incidental Mutation 'IGL00585:Serpinb1c'
ID277812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1c
Ensembl Gene ENSMUSG00000079049
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 1c
Synonymsovalbumin, EIC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL00585
Quality Score
Status
Chromosome13
Chromosomal Location32881434-32898211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32883975 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 213 (K213E)
Ref Sequence ENSEMBL: ENSMUSP00000021834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021834] [ENSMUST00000221019]
Predicted Effect probably damaging
Transcript: ENSMUST00000021834
AA Change: K213E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: K213E

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-167 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Cacng7 A G 7: 3,366,031 Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Gtf2h2 A G 13: 100,480,998 probably benign Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Mgme1 C T 2: 144,271,989 P4S probably benign Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 M224R possibly damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly damaging Het
Other mutations in Serpinb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00490:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00497:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00501:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00567:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00575:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00586:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00588:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00589:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00983:Serpinb1c APN 13 32884224 missense possibly damaging 0.52
IGL01589:Serpinb1c APN 13 32886172 missense probably damaging 1.00
IGL03393:Serpinb1c APN 13 32882061 missense probably damaging 1.00
R0096:Serpinb1c UTSW 13 32886283 splice site probably benign
R0711:Serpinb1c UTSW 13 32886283 splice site probably benign
R1222:Serpinb1c UTSW 13 32896951 missense possibly damaging 0.53
R1301:Serpinb1c UTSW 13 32896960 nonsense probably null
R1570:Serpinb1c UTSW 13 32896990 missense probably benign 0.05
R1574:Serpinb1c UTSW 13 32888996 missense possibly damaging 0.89
R1574:Serpinb1c UTSW 13 32888996 missense possibly damaging 0.89
R1891:Serpinb1c UTSW 13 32884252 missense probably benign 0.35
R4932:Serpinb1c UTSW 13 32882164 missense probably damaging 1.00
R5831:Serpinb1c UTSW 13 32897098 start codon destroyed probably null 1.00
R6010:Serpinb1c UTSW 13 32882059 missense probably damaging 1.00
R6701:Serpinb1c UTSW 13 32896941 missense probably benign 0.37
R7522:Serpinb1c UTSW 13 32882217 missense probably benign 0.04
R8050:Serpinb1c UTSW 13 32882069 nonsense probably null
R8155:Serpinb1c UTSW 13 32897055 missense probably damaging 1.00
Posted On2015-04-16