Incidental Mutation 'R9786:Serpina1a'
ID 734351
Institutional Source Beutler Lab
Gene Symbol Serpina1a
Ensembl Gene ENSMUSG00000066366
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1A
Synonyms PI1, Aat2, Spi1-1, Aat-2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9786 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 103853589-103863562 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103855881 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 264 (L264P)
Ref Sequence ENSEMBL: ENSMUSP00000072652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]
AlphaFold P07758
Predicted Effect possibly damaging
Transcript: ENSMUST00000072876
AA Change: L264P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: L264P

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085056
AA Change: L241P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: L241P

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124717
SMART Domains Protein: ENSMUSP00000120398
Gene: ENSMUSG00000066366

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
Pfam:Serpin 46 96 2.7e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik C T 13: 59,742,684 D441N possibly damaging Het
A4gnt T A 9: 99,620,483 M232K possibly damaging Het
Abcc1 T C 16: 14,405,063 S243P probably damaging Het
Acsl1 T C 8: 46,521,449 Y320H probably damaging Het
Adam11 A G 11: 102,762,264 S61G probably benign Het
Adamts1 G A 16: 85,795,414 T965I probably benign Het
Adcyap1r1 T A 6: 55,479,197 M190K probably damaging Het
Ankrd2 T A 19: 42,044,919 L300Q Het
Ankrd27 A T 7: 35,591,869 Q30L possibly damaging Het
Atp8b5 T A 4: 43,305,798 I114K probably damaging Het
Atrn A T 2: 130,944,889 I205F probably damaging Het
BC035947 A G 1: 78,511,924 probably benign Het
Boc C T 16: 44,491,329 R677H Het
D3Ertd254e T A 3: 36,165,704 C625* probably null Het
Dpysl3 G T 18: 43,329,857 T485K probably damaging Het
Esyt3 T C 9: 99,311,985 D867G possibly damaging Het
Fam178b G A 1: 36,564,436 T478I probably damaging Het
Fam26f A G 10: 34,127,647 F88S probably benign Het
Foxd2 G T 4: 114,907,653 T390K possibly damaging Het
Furin A G 7: 80,390,897 V731A probably benign Het
Gm6583 T A 5: 112,355,073 E255V probably benign Het
Grin2a T A 16: 9,653,602 I601F possibly damaging Het
Hat1 G A 2: 71,420,615 R169Q possibly damaging Het
Ighe G C 12: 113,273,231 Q6E Het
Ighv8-2 T C 12: 114,462,559 I31V probably benign Het
Klk1 A G 7: 44,228,680 D120G probably damaging Het
Kmt2e A G 5: 23,497,984 D1054G probably benign Het
Lamp5 A T 2: 136,069,078 I244F probably damaging Het
Mcm5 C T 8: 75,117,540 S313F probably benign Het
Mfsd4b1 T C 10: 40,002,869 E344G probably damaging Het
Mns1 A G 9: 72,439,274 K13R probably benign Het
Mrpl43 C T 19: 45,005,907 S91N probably benign Het
Mtbp T C 15: 55,617,636 S706P probably benign Het
Nelfb A T 2: 25,205,133 V348D probably damaging Het
Olfr1049 G A 2: 86,255,084 S203L probably benign Het
Olfr281 T C 15: 98,456,832 I174T possibly damaging Het
Olfr355 T A 2: 36,927,404 K237* probably null Het
Olfr497 A T 7: 108,422,717 I49F probably benign Het
Olfr835 C T 9: 19,035,945 A274V possibly damaging Het
Pde6c T C 19: 38,151,561 I324T possibly damaging Het
Phlpp2 T A 8: 109,934,023 L770* probably null Het
Pik3c2b T A 1: 133,091,600 F1029I possibly damaging Het
Rfx2 A T 17: 56,780,890 S500R probably benign Het
Sarm1 T C 11: 78,474,917 M761V probably benign Het
Slc37a1 G T 17: 31,337,991 G377V probably damaging Het
Slc38a4 T A 15: 97,008,497 M364L probably damaging Het
Slc7a15 A G 12: 8,530,280 F384S probably benign Het
Smyd4 T C 11: 75,390,799 V366A probably benign Het
Spata31d1b T A 13: 59,718,341 V1101D possibly damaging Het
Stab2 C A 10: 86,922,133 M1090I probably benign Het
Tex15 C T 8: 33,572,429 T903I probably damaging Het
Tgds A T 14: 118,130,637 Y41* probably null Het
Tle4 G T 19: 14,517,940 H142N probably benign Het
Tlx2 T C 6: 83,069,293 probably null Het
Tmem151a C G 19: 5,081,841 A446P probably damaging Het
Tmem205 A T 9: 21,921,200 D138E probably damaging Het
Tmem57 A T 4: 134,830,682 Y173* probably null Het
Tmprss9 A G 10: 80,898,208 K1009E unknown Het
Tnk2 T A 16: 32,680,057 C729* probably null Het
Trim46 T A 3: 89,235,092 D696V probably damaging Het
Tuba3b G A 6: 145,618,756 R84Q probably benign Het
Unc119b C T 5: 115,125,462 D228N probably damaging Het
Usp17la A G 7: 104,861,657 T490A probably benign Het
Zfp687 C T 3: 95,012,457 M1I probably null Het
Zfp729a T C 13: 67,620,509 T534A possibly damaging Het
Zfp985 A T 4: 147,583,590 H305L probably benign Het
Zscan10 C T 17: 23,609,356 Q291* probably null Het
Other mutations in Serpina1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Serpina1a APN 12 103854706 missense probably damaging 0.99
IGL02511:Serpina1a APN 12 103855967 nonsense probably null
R0071:Serpina1a UTSW 12 103855743 missense probably benign 0.03
R1610:Serpina1a UTSW 12 103853837 missense possibly damaging 0.69
R1959:Serpina1a UTSW 12 103853800 nonsense probably null
R3107:Serpina1a UTSW 12 103853841 missense probably damaging 1.00
R3108:Serpina1a UTSW 12 103853841 missense probably damaging 1.00
R4303:Serpina1a UTSW 12 103854675 missense probably damaging 1.00
R4814:Serpina1a UTSW 12 103854763 missense probably benign 0.01
R6011:Serpina1a UTSW 12 103857469 missense probably damaging 0.97
R6547:Serpina1a UTSW 12 103855921 missense probably damaging 1.00
R6548:Serpina1a UTSW 12 103853758 missense probably benign 0.00
R6724:Serpina1a UTSW 12 103860420 intron probably benign
R6915:Serpina1a UTSW 12 103853851 missense possibly damaging 0.68
R6991:Serpina1a UTSW 12 103853833 missense probably benign 0.04
R7570:Serpina1a UTSW 12 103853837 missense possibly damaging 0.69
R7629:Serpina1a UTSW 12 103853808 missense probably damaging 1.00
R8353:Serpina1a UTSW 12 103855779 missense probably benign 0.01
R8556:Serpina1a UTSW 12 103855970 missense probably damaging 1.00
R8909:Serpina1a UTSW 12 103854679 missense probably damaging 0.97
R9021:Serpina1a UTSW 12 103858034 missense probably benign 0.01
R9058:Serpina1a UTSW 12 103853742 missense possibly damaging 0.94
Z1088:Serpina1a UTSW 12 103854667 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAGGTCTCTGTCTGGGTGTCAC -3'
(R):5'- TTACCCTCACCAAAGTGCCTG -3'

Sequencing Primer
(F):5'- CTGGGTGTCACCTTCTGCG -3'
(R):5'- TAGAAGGCTAGTAGTGTCCCC -3'
Posted On 2022-11-14