Incidental Mutation 'R6872:Serpina3k'
ID 536225
Institutional Source Beutler Lab
Gene Symbol Serpina3k
Ensembl Gene ENSMUSG00000058207
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3K
Synonyms Spi-2, alpha-1 antiproteinase, MMSpi2, 1300001I07Rik, RP54, contrapsin, Spi2, MMCM2, D12Rp54
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 104304745-104311998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104310519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 350 (K350Q)
Ref Sequence ENSEMBL: ENSMUSP00000042095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043058
AA Change: K350Q

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: K350Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 57 417 4.77e-195 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101078
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging Het
Other mutations in Serpina3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Serpina3k APN 12 104,309,369 (GRCm39) missense probably benign 0.36
IGL01402:Serpina3k APN 12 104,306,882 (GRCm39) missense probably benign 0.00
IGL01404:Serpina3k APN 12 104,306,882 (GRCm39) missense probably benign 0.00
IGL01958:Serpina3k APN 12 104,307,316 (GRCm39) missense probably damaging 1.00
IGL02031:Serpina3k APN 12 104,311,525 (GRCm39) missense probably benign 0.08
IGL02055:Serpina3k APN 12 104,307,295 (GRCm39) nonsense probably null
IGL02981:Serpina3k APN 12 104,307,250 (GRCm39) missense probably benign 0.02
IGL03269:Serpina3k APN 12 104,306,780 (GRCm39) missense possibly damaging 0.83
R1076:Serpina3k UTSW 12 104,307,253 (GRCm39) missense probably benign 0.00
R2360:Serpina3k UTSW 12 104,307,166 (GRCm39) nonsense probably null
R3816:Serpina3k UTSW 12 104,307,221 (GRCm39) missense probably benign 0.08
R4577:Serpina3k UTSW 12 104,310,451 (GRCm39) missense possibly damaging 0.94
R4656:Serpina3k UTSW 12 104,311,532 (GRCm39) missense probably damaging 1.00
R4732:Serpina3k UTSW 12 104,307,119 (GRCm39) missense probably damaging 1.00
R4733:Serpina3k UTSW 12 104,307,119 (GRCm39) missense probably damaging 1.00
R4916:Serpina3k UTSW 12 104,309,269 (GRCm39) missense probably damaging 1.00
R4999:Serpina3k UTSW 12 104,307,305 (GRCm39) missense probably damaging 1.00
R5053:Serpina3k UTSW 12 104,309,473 (GRCm39) critical splice donor site probably null
R6300:Serpina3k UTSW 12 104,306,981 (GRCm39) missense probably damaging 1.00
R6343:Serpina3k UTSW 12 104,311,562 (GRCm39) missense probably benign
R6851:Serpina3k UTSW 12 104,311,625 (GRCm39) missense probably benign 0.00
R6858:Serpina3k UTSW 12 104,311,504 (GRCm39) missense possibly damaging 0.85
R6992:Serpina3k UTSW 12 104,307,366 (GRCm39) missense probably benign 0.00
R7025:Serpina3k UTSW 12 104,307,401 (GRCm39) missense probably benign 0.01
R7050:Serpina3k UTSW 12 104,307,403 (GRCm39) missense possibly damaging 0.96
R7238:Serpina3k UTSW 12 104,309,367 (GRCm39) missense probably damaging 1.00
R7240:Serpina3k UTSW 12 104,306,861 (GRCm39) missense probably benign 0.05
R7469:Serpina3k UTSW 12 104,311,594 (GRCm39) missense not run
R8837:Serpina3k UTSW 12 104,309,292 (GRCm39) missense probably benign 0.00
R9025:Serpina3k UTSW 12 104,307,230 (GRCm39) missense probably damaging 1.00
R9497:Serpina3k UTSW 12 104,309,430 (GRCm39) missense probably benign 0.01
X0019:Serpina3k UTSW 12 104,306,834 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGGGACTCTTACCTTGCTC -3'
(R):5'- GCAGGGCAGCACATGTTAGTATC -3'

Sequencing Primer
(F):5'- AGAGGATGTCCTTCCAGA -3'
(R):5'- CCATGGTTCTATGGAGCAACTCTAG -3'
Posted On 2018-10-18