Incidental Mutation 'R6011:Serpina1a'
ID 479765
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 043253-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6011 (G1)
Quality Score 139.008
Status Not validated
Chromosome 12
Chromosomal Location 103853589-103863562 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103857469 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 195 (D195V)
Ref Sequence ENSEMBL: ENSMUSP00000082132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]
AlphaFold P07758
Predicted Effect possibly damaging
Transcript: ENSMUST00000072876
AA Change: D218V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: D218V

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085056
AA Change: D195V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: D195V

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: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,245,744 N533K probably benign Het
Adamts15 G T 9: 30,902,786 H694Q probably damaging Het
Adcy5 T C 16: 35,157,228 L377P probably benign Het
Add2 T C 6: 86,098,625 L252P probably damaging Het
Amer1 ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 95,427,283 probably benign Het
Ankrd13d A G 19: 4,281,934 L39P probably damaging Het
Asic1 G T 15: 99,699,079 A541S probably benign Het
Bpifb2 A G 2: 153,889,576 probably null Het
Catsper3 A G 13: 55,786,492 I75M probably damaging Het
Ccser2 T C 14: 36,879,575 E837G probably benign Het
Clasp2 C T 9: 113,876,247 P557L probably benign Het
Clstn2 C T 9: 97,456,526 R860Q probably benign Het
Cyp2c66 A G 19: 39,141,936 K72E probably benign Het
Cyp3a44 A G 5: 145,801,274 probably null Het
Disp2 G A 2: 118,790,820 V678I possibly damaging Het
Dock4 T C 12: 40,817,757 probably null Het
Eml3 T C 19: 8,939,107 Y688H probably damaging Het
Fam129b T C 2: 32,922,865 Y482H probably damaging Het
Fam187a A G 11: 102,885,441 K24E probably damaging Het
Fhit T C 14: 9,870,068 K134E probably benign Het
Gm16485 A T 9: 8,972,453 probably benign Het
Gm5096 A G 18: 87,756,539 E62G probably damaging Het
Gm5294 A G 5: 138,821,619 *217W probably null Het
Gm7247 C T 14: 51,364,348 S26F probably benign Het
Gm9573 T A 17: 35,622,182 probably benign Het
Hmgxb3 G A 18: 61,163,024 T304I probably damaging Het
Lgsn A G 1: 31,203,766 S310G probably damaging Het
Lman1l A T 9: 57,615,755 D140E probably damaging Het
Olfr1148 A G 2: 87,833,915 N292S probably damaging Het
Olfr1290 C A 2: 111,489,847 A104S probably benign Het
Olfr1505 G A 19: 13,919,157 V46I probably benign Het
Olfr765 A T 10: 129,046,639 H141Q probably benign Het
Olfr843 T A 9: 19,248,511 E296V probably damaging Het
Pelo A G 13: 115,089,766 S52P probably benign Het
Prune2 A G 19: 17,118,716 N528S probably benign Het
Rfc3 T A 5: 151,643,719 I291L probably damaging Het
Rpl35 A T 2: 39,004,801 probably null Het
Sectm1b C T 11: 121,055,878 V64I possibly damaging Het
Serpina12 A G 12: 104,035,734 M241T probably damaging Het
Sesn2 C T 4: 132,499,397 V129M probably damaging Het
Slc4a1 A C 11: 102,352,531 V758G probably damaging Het
Tmx4 A T 2: 134,639,836 Y56N probably damaging Het
Traj50 T C 14: 54,167,634 probably benign Het
Trio T G 15: 27,735,545 K2820Q probably damaging Het
Ttc28 G A 5: 111,286,443 G2417S probably benign Het
Usp32 T C 11: 85,032,097 D665G possibly damaging 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
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
R9786:Serpina1a UTSW 12 103855881 missense possibly damaging 0.93
Z1088:Serpina1a UTSW 12 103854667 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGACTTGATGTTTGAAGCCAATTC -3'
(R):5'- ACAATGACCTGAAGCTGGTG -3'

Sequencing Primer
(F):5'- GATGTTTGAAGCCAATTCCTAAGC -3'
(R):5'- ACCTGAAGCTGGTGGAGAAGTTTC -3'
Posted On 2017-06-26