Incidental Mutation 'R4690:Serpinb13'
ID 354811
Institutional Source Beutler Lab
Gene Symbol Serpinb13
Ensembl Gene ENSMUSG00000048775
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13
Synonyms HUR7, HURPIN, PI13, headpin
MMRRC Submission 041941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4690 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106908714-106928925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106910574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 66 (S66L)
Ref Sequence ENSEMBL: ENSMUSP00000118572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027564] [ENSMUST00000136766]
AlphaFold Q8CDC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027564
AA Change: S66L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: S66L

DomainStartEndE-ValueType
SERPIN 13 389 1.55e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000136766
AA Change: S66L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775
AA Change: S66L

DomainStartEndE-ValueType
Pfam:Serpin 6 94 1.1e-16 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (89/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,039,706 (GRCm39) F436L probably damaging Het
Adam28 G T 14: 68,879,497 (GRCm39) Q184K probably benign Het
Adh6a A G 3: 138,031,932 (GRCm39) T275A possibly damaging Het
Agap2 A G 10: 126,927,244 (GRCm39) D1082G possibly damaging Het
Alox5 A T 6: 116,400,150 (GRCm39) V263E probably damaging Het
Arhgef16 C T 4: 154,372,420 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc188 T A 16: 18,036,159 (GRCm39) H111Q probably damaging Het
Cd40 T C 2: 164,911,615 (GRCm39) F209S possibly damaging Het
Cfap43 C A 19: 47,736,298 (GRCm39) V1398L probably benign Het
Cln3 A T 7: 126,174,565 (GRCm39) I286N possibly damaging Het
Col9a1 T C 1: 24,263,787 (GRCm39) probably null Het
Cpne9 A G 6: 113,279,016 (GRCm39) E470G probably damaging Het
Cul5 A T 9: 53,534,171 (GRCm39) W654R probably damaging Het
Cyp2a22 T A 7: 26,638,634 (GRCm39) K51* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dot1l C A 10: 80,622,016 (GRCm39) S556* probably null Het
Eif3d A T 15: 77,851,516 (GRCm39) M98K probably benign Het
Fiz1 A G 7: 5,012,167 (GRCm39) V117A probably benign Het
Fryl A G 5: 73,257,636 (GRCm39) V722A probably benign Het
Ftdc1 G A 16: 58,434,333 (GRCm39) T128I probably benign Het
Gm3095 G T 14: 3,964,471 (GRCm38) R63I probably benign Het
Gm7133 A T 1: 97,197,224 (GRCm39) noncoding transcript Het
Hoxb8 A T 11: 96,175,286 (GRCm39) D241V probably benign Het
Hrnr A G 3: 93,230,959 (GRCm39) Q399R unknown Het
Itpk1 A T 12: 102,572,434 (GRCm39) V93D probably damaging Het
Kars1 C T 8: 112,729,216 (GRCm39) A164T probably benign Het
Kcnq4 A T 4: 120,574,208 (GRCm39) I150N probably damaging Het
Kcnrg A T 14: 61,849,176 (GRCm39) L212F probably damaging Het
Kif5b A T 18: 6,216,759 (GRCm39) D521E probably benign Het
Klf11 C T 12: 24,705,071 (GRCm39) T158M probably damaging Het
Klhl6 T C 16: 19,776,034 (GRCm39) I175V probably benign Het
Lsm1 A G 8: 26,283,708 (GRCm39) N40S probably damaging Het
Map1b T C 13: 99,567,576 (GRCm39) E1715G unknown Het
Mecom C A 3: 30,292,459 (GRCm39) A4S probably benign Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Mug2 A T 6: 122,013,255 (GRCm39) I341L probably benign Het
Mxra7 A T 11: 116,707,078 (GRCm39) probably null Het
Myo5a T C 9: 75,061,105 (GRCm39) L537P probably damaging Het
Myo5b A T 18: 74,855,533 (GRCm39) N1241Y probably damaging Het
Naa16 T C 14: 79,582,497 (GRCm39) R531G probably damaging Het
Neb T A 2: 52,134,087 (GRCm39) M3299L probably benign Het
Nlrp4b T A 7: 10,453,130 (GRCm39) Y76N probably benign Het
Nmral1 T C 16: 4,534,205 (GRCm39) T79A probably damaging Het
Noct C T 3: 51,155,300 (GRCm39) Q23* probably null Het
Nrxn1 A T 17: 90,344,509 (GRCm39) V438D probably damaging Het
Or5b109 A C 19: 13,212,132 (GRCm39) N173H possibly damaging Het
Or5m9 T A 2: 85,877,242 (GRCm39) C139S probably damaging Het
Oxct2a T C 4: 123,216,836 (GRCm39) T182A probably benign Het
Pank2 T C 2: 131,115,945 (GRCm39) I121T probably damaging Het
Pcdh1 T A 18: 38,336,528 (GRCm39) T36S probably benign Het
Pfdn1 A T 18: 36,584,133 (GRCm39) M67K possibly damaging Het
Plec T C 15: 76,058,456 (GRCm39) E3849G probably damaging Het
Polr3a A T 14: 24,514,349 (GRCm39) S817T possibly damaging Het
Pomgnt1 T A 4: 116,012,707 (GRCm39) D401E probably damaging Het
Ppp1r13b T A 12: 111,798,992 (GRCm39) D891V probably damaging Het
Prr14l A G 5: 33,001,500 (GRCm39) probably benign Het
Ptk2b A G 14: 66,410,749 (GRCm39) probably null Het
Rab13 G C 3: 90,128,330 (GRCm39) probably null Het
Rexo1 C T 10: 80,382,255 (GRCm39) A751T probably benign Het
Rfx1 T C 8: 84,809,374 (GRCm39) V233A possibly damaging Het
Rnf149 C T 1: 39,616,295 (GRCm39) probably benign Het
Rrm1 A G 7: 102,097,086 (GRCm39) D122G probably benign Het
Serpina1b A G 12: 103,698,639 (GRCm39) F70S probably damaging Het
Sh3rf3 T C 10: 58,649,526 (GRCm39) S44P possibly damaging Het
Shroom1 A G 11: 53,356,549 (GRCm39) T471A possibly damaging Het
Slc6a1 A G 6: 114,279,792 (GRCm39) Y152C probably damaging Het
Spata31f3 T A 4: 42,873,032 (GRCm39) probably null Het
Spata6 A T 4: 111,632,023 (GRCm39) T145S probably damaging Het
Srcap G A 7: 127,137,186 (GRCm39) G956D probably damaging Het
Ssh2 A T 11: 77,346,031 (GRCm39) I1339F possibly damaging Het
Tardbp A T 4: 148,697,078 (GRCm39) *99K probably null Het
Tbc1d22a A G 15: 86,196,037 (GRCm39) Y336C probably damaging Het
Tmcc3 G A 10: 94,381,419 (GRCm39) probably benign Het
Tmem178b T G 6: 40,222,547 (GRCm39) D87E probably benign Het
Tmem184a A C 5: 139,791,377 (GRCm39) S380A probably benign Het
Tnfaip2 A G 12: 111,411,682 (GRCm39) K84R possibly damaging Het
Tpgs1 A G 10: 79,511,235 (GRCm39) T126A probably benign Het
Traf3ip1 A G 1: 91,447,834 (GRCm39) E437G possibly damaging Het
Trpc4ap C T 2: 155,477,053 (GRCm39) C755Y probably damaging Het
Tsfm A G 10: 126,866,547 (GRCm39) probably benign Het
Tulp1 A C 17: 28,570,811 (GRCm39) probably benign Het
Vmn1r23 A T 6: 57,903,010 (GRCm39) M256K probably benign Het
Zdhhc8 T C 16: 18,044,605 (GRCm39) D305G probably damaging Het
Zfp326 G A 5: 106,054,942 (GRCm39) R282H probably damaging Het
Other mutations in Serpinb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Serpinb13 APN 1 106,924,110 (GRCm39) missense probably damaging 1.00
IGL01758:Serpinb13 APN 1 106,928,484 (GRCm39) missense probably damaging 1.00
IGL02078:Serpinb13 APN 1 106,926,688 (GRCm39) missense probably damaging 0.99
IGL02183:Serpinb13 APN 1 106,926,640 (GRCm39) missense probably damaging 1.00
PIT4651001:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R0683:Serpinb13 UTSW 1 106,926,751 (GRCm39) missense probably damaging 1.00
R1263:Serpinb13 UTSW 1 106,928,466 (GRCm39) missense probably damaging 0.97
R1535:Serpinb13 UTSW 1 106,909,886 (GRCm39) start codon destroyed probably null 1.00
R1929:Serpinb13 UTSW 1 106,926,756 (GRCm39) missense possibly damaging 0.85
R2271:Serpinb13 UTSW 1 106,926,756 (GRCm39) missense possibly damaging 0.85
R2655:Serpinb13 UTSW 1 106,928,157 (GRCm39) missense probably damaging 0.99
R3115:Serpinb13 UTSW 1 106,910,568 (GRCm39) missense probably null 0.15
R3418:Serpinb13 UTSW 1 106,926,657 (GRCm39) missense probably damaging 0.99
R3419:Serpinb13 UTSW 1 106,926,657 (GRCm39) missense probably damaging 0.99
R3883:Serpinb13 UTSW 1 106,926,302 (GRCm39) missense probably benign 0.37
R4664:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4666:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4689:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4725:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4728:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4847:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R5249:Serpinb13 UTSW 1 106,926,427 (GRCm39) missense probably damaging 1.00
R5501:Serpinb13 UTSW 1 106,909,915 (GRCm39) missense possibly damaging 0.81
R5507:Serpinb13 UTSW 1 106,926,332 (GRCm39) missense probably benign 0.00
R6015:Serpinb13 UTSW 1 106,928,337 (GRCm39) missense probably benign 0.00
R6363:Serpinb13 UTSW 1 106,928,504 (GRCm39) nonsense probably null
R6720:Serpinb13 UTSW 1 106,921,792 (GRCm39) missense probably benign 0.12
R6847:Serpinb13 UTSW 1 106,926,663 (GRCm39) missense probably benign 0.24
R7237:Serpinb13 UTSW 1 106,926,679 (GRCm39) missense probably damaging 1.00
R8907:Serpinb13 UTSW 1 106,928,519 (GRCm39) missense probably damaging 1.00
R8966:Serpinb13 UTSW 1 106,928,165 (GRCm39) missense probably damaging 1.00
R9011:Serpinb13 UTSW 1 106,923,519 (GRCm39) missense probably benign 0.01
R9350:Serpinb13 UTSW 1 106,923,562 (GRCm39) nonsense probably null
R9375:Serpinb13 UTSW 1 106,909,997 (GRCm39) missense probably damaging 1.00
R9774:Serpinb13 UTSW 1 106,923,579 (GRCm39) missense probably benign 0.02
Z1177:Serpinb13 UTSW 1 106,910,033 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGGCAACATAGACATTTCTCTGG -3'
(R):5'- AATCCAGGAGCTTTTGAGCAAG -3'

Sequencing Primer
(F):5'- AGACATTTCTCTGGCTTTTCAAGGAG -3'
(R):5'- AGCCTCTAGGACTTTGTTATAGCAGC -3'
Posted On 2015-10-21