Incidental Mutation 'R7063:Serpina3m'
ID 548408
Institutional Source Beutler Lab
Gene Symbol Serpina3m
Ensembl Gene ENSMUSG00000079012
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3M
Synonyms Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46
MMRRC Submission 045159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7063 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104353424-104360518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104357726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 217 (I217L)
Ref Sequence ENSEMBL: ENSMUSP00000130979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101078] [ENSMUST00000168797]
AlphaFold Q03734
Predicted Effect probably benign
Transcript: ENSMUST00000101078
AA Change: I217L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: I217L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168797
AA Change: I217L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: I217L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A G 7: 16,299,038 (GRCm39) V9A probably benign Het
Btbd6 A G 12: 112,941,132 (GRCm39) Y148C probably damaging Het
Casr T C 16: 36,314,936 (GRCm39) I968V probably benign Het
Celf1 T C 2: 90,843,189 (GRCm39) probably null Het
Chst2 G T 9: 95,287,621 (GRCm39) R242S probably benign Het
Clca3a1 T A 3: 144,460,967 (GRCm39) D228V probably damaging Het
Cwf19l2 A G 9: 3,430,532 (GRCm39) Y288C probably benign Het
Cyp2r1 A G 7: 114,152,184 (GRCm39) S49P probably damaging Het
Dnah5 A G 15: 28,233,394 (GRCm39) E251G probably benign Het
Eepd1 A G 9: 25,394,332 (GRCm39) R199G possibly damaging Het
Fat1 C T 8: 45,493,812 (GRCm39) T3986I probably benign Het
Gbp4 G A 5: 105,266,314 (GRCm39) R576C probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Gm6408 T C 5: 146,420,594 (GRCm39) I158T probably benign Het
Gpr89 C G 3: 96,783,014 (GRCm39) R312P probably damaging Het
Idh2 A G 7: 79,745,432 (GRCm39) V403A probably damaging Het
Lclat1 A G 17: 73,546,986 (GRCm39) E301G possibly damaging Het
Lgmn A G 12: 102,368,937 (GRCm39) Y181H probably damaging Het
Lgr5 T C 10: 115,292,639 (GRCm39) Y417C probably damaging Het
Man1a G T 10: 53,906,840 (GRCm39) N311K probably damaging Het
Nat10 G A 2: 103,578,422 (GRCm39) L228F probably benign Het
Or10d3 T G 9: 39,461,411 (GRCm39) Y252S possibly damaging Het
Or10v5 A G 19: 11,805,548 (GRCm39) F281L probably damaging Het
Or5b12b A G 19: 12,861,449 (GRCm39) D68G probably damaging Het
Or5p55 C A 7: 107,567,411 (GRCm39) A269E probably benign Het
Pcmtd2 T A 2: 181,496,776 (GRCm39) Y130* probably null Het
Potefam3f G A 8: 20,479,013 (GRCm39) C7Y Het
Qrfprl A G 6: 65,418,387 (GRCm39) probably benign Het
Rapgef5 A G 12: 117,652,864 (GRCm39) D62G possibly damaging Het
Supt16 T C 14: 52,409,505 (GRCm39) R802G possibly damaging Het
Sypl2 A T 3: 108,124,971 (GRCm39) M130K probably benign Het
Tmtc2 A T 10: 105,184,386 (GRCm39) L503Q probably damaging Het
Ubald2 A G 11: 116,325,443 (GRCm39) Q60R probably benign Het
Vav1 C T 17: 57,618,860 (GRCm39) Q673* probably null Het
Vgll2 T C 10: 51,904,072 (GRCm39) S312P probably benign Het
Vmn1r191 C T 13: 22,362,864 (GRCm39) A297T probably benign Het
Vmn1r7 T A 6: 57,001,418 (GRCm39) I281F possibly damaging Het
Vmn2r108 T C 17: 20,701,410 (GRCm39) Y30C probably damaging Het
Vmn2r16 A G 5: 109,511,650 (GRCm39) N619S probably damaging Het
Vstm5 A G 9: 15,150,549 (GRCm39) probably benign Het
Zfp7 A G 15: 76,775,919 (GRCm39) I654V possibly damaging Het
Zmat2 A G 18: 36,929,627 (GRCm39) N129S probably null Het
Other mutations in Serpina3m
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4976:Serpina3m UTSW 12 104,324,882 (GRCm39) splice site probably null
R1797:Serpina3m UTSW 12 104,355,774 (GRCm39) missense probably damaging 1.00
R1929:Serpina3m UTSW 12 104,355,581 (GRCm39) missense probably damaging 0.97
R1991:Serpina3m UTSW 12 104,355,958 (GRCm39) nonsense probably null
R2032:Serpina3m UTSW 12 104,355,928 (GRCm39) missense probably benign 0.00
R2094:Serpina3m UTSW 12 104,355,529 (GRCm39) missense probably benign 0.35
R2103:Serpina3m UTSW 12 104,355,958 (GRCm39) nonsense probably null
R2121:Serpina3m UTSW 12 104,355,941 (GRCm39) missense possibly damaging 0.59
R2147:Serpina3m UTSW 12 104,355,483 (GRCm39) missense probably benign 0.01
R2241:Serpina3m UTSW 12 104,355,708 (GRCm39) missense probably benign 0.01
R2330:Serpina3m UTSW 12 104,357,963 (GRCm39) missense possibly damaging 0.61
R4057:Serpina3m UTSW 12 104,357,996 (GRCm39) splice site probably benign
R4275:Serpina3m UTSW 12 104,355,375 (GRCm39) missense probably damaging 0.99
R4466:Serpina3m UTSW 12 104,357,874 (GRCm39) missense probably damaging 1.00
R4901:Serpina3m UTSW 12 104,355,908 (GRCm39) nonsense probably null
R4924:Serpina3m UTSW 12 104,357,729 (GRCm39) missense probably benign 0.00
R4964:Serpina3m UTSW 12 104,355,360 (GRCm39) missense probably benign 0.43
R5723:Serpina3m UTSW 12 104,360,170 (GRCm39) missense probably damaging 0.96
R5836:Serpina3m UTSW 12 104,355,509 (GRCm39) missense probably damaging 1.00
R6172:Serpina3m UTSW 12 104,355,486 (GRCm39) missense probably damaging 1.00
R6619:Serpina3m UTSW 12 104,357,766 (GRCm39) missense probably benign 0.02
R6857:Serpina3m UTSW 12 104,355,585 (GRCm39) missense probably damaging 1.00
R6886:Serpina3m UTSW 12 104,355,386 (GRCm39) missense possibly damaging 0.94
R7170:Serpina3m UTSW 12 104,355,777 (GRCm39) missense probably damaging 1.00
R7622:Serpina3m UTSW 12 104,355,834 (GRCm39) missense possibly damaging 0.82
R8222:Serpina3m UTSW 12 104,358,960 (GRCm39) missense possibly damaging 0.78
R8771:Serpina3m UTSW 12 104,357,841 (GRCm39) missense probably damaging 0.98
R8853:Serpina3m UTSW 12 104,355,914 (GRCm39) missense probably benign
R8913:Serpina3m UTSW 12 104,355,477 (GRCm39) missense probably benign 0.32
R9641:Serpina3m UTSW 12 104,360,085 (GRCm39) nonsense probably null
R9709:Serpina3m UTSW 12 104,359,008 (GRCm39) missense probably damaging 1.00
Z1177:Serpina3m UTSW 12 104,355,711 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCTAGCAGCTTGGTCAACTACC -3'
(R):5'- GGTTGTAAGCTGGCTTCCAC -3'

Sequencing Primer
(F):5'- AAGGGACACTCTGAGTGA -3'
(R):5'- TGCATCCTGCCCTGGTCAG -3'
Posted On 2019-05-13