Incidental Mutation 'R4924:Serpina3m'
ID 378893
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 042526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4924 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104353424-104360518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104357729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 218 (S218T)
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: S218T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: S218T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168797
AA Change: S218T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: S218T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 119,902,351 (GRCm39) H625Y probably damaging Het
Adamts4 C T 1: 171,086,643 (GRCm39) R812W probably damaging Het
Ajuba A C 14: 54,809,056 (GRCm39) probably null Het
Aox1 T A 1: 58,344,503 (GRCm39) V532D probably damaging Het
Arpc1b G A 5: 145,063,625 (GRCm39) S295N probably benign Het
Baiap2 A G 11: 119,887,850 (GRCm39) S335G probably damaging Het
Brap T G 5: 121,803,318 (GRCm39) N155K probably damaging Het
Btn1a1 A G 13: 23,648,396 (GRCm39) probably benign Het
Ccl12 G A 11: 81,993,475 (GRCm39) V38I probably benign Het
Cemip T C 7: 83,602,146 (GRCm39) Y881C probably damaging Het
Cep128 T C 12: 90,989,174 (GRCm39) silent Het
Chd5 A C 4: 152,450,886 (GRCm39) D670A possibly damaging Het
Cmip T C 8: 117,983,994 (GRCm39) Y52H probably benign Het
Dmtn A G 14: 70,855,399 (GRCm39) I30T probably benign Het
Dscaml1 T A 9: 45,656,487 (GRCm39) M1609K probably damaging Het
Edar C A 10: 58,465,197 (GRCm39) E55D probably damaging Het
Ehmt1 A T 2: 24,729,734 (GRCm39) I601N probably damaging Het
Fam120a A T 13: 49,055,572 (GRCm39) N705K probably benign Het
Gm21718 G T 14: 51,550,292 (GRCm39) noncoding transcript Het
Gnaz A G 10: 74,827,545 (GRCm39) D99G probably benign Het
Helz G A 11: 107,493,165 (GRCm39) G196D probably damaging Het
Hif1a T C 12: 73,986,331 (GRCm39) S341P probably damaging Het
Hivep1 G T 13: 42,311,792 (GRCm39) S1344I probably benign Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Ift81 A G 5: 122,732,679 (GRCm39) L285S possibly damaging Het
Inpp4b T A 8: 82,849,253 (GRCm39) N891K probably damaging Het
Irx6 C T 8: 93,404,981 (GRCm39) T283M probably benign Het
Kdm5b A G 1: 134,559,089 (GRCm39) K1538E probably benign Het
Kif13a A G 13: 47,083,075 (GRCm39) V8A probably damaging Het
Krtap15-1 T A 16: 88,626,036 (GRCm39) N34K probably damaging Het
Lama2 T G 10: 27,245,137 (GRCm39) I215L probably damaging Het
Ldlrad3 C T 2: 101,900,328 (GRCm39) R58H possibly damaging Het
Lvrn C T 18: 47,027,792 (GRCm39) P869L probably damaging Het
Myo1d A G 11: 80,565,504 (GRCm39) F411S probably damaging Het
Myo5b T A 18: 74,828,455 (GRCm39) H702Q probably benign Het
Nat8f4 G T 6: 85,878,401 (GRCm39) Q41K probably benign Het
Nckap5 C A 1: 125,954,765 (GRCm39) E596* probably null Het
Nek10 T A 14: 14,846,594 (GRCm38) probably null Het
Notch3 T C 17: 32,363,705 (GRCm39) Y1145C probably damaging Het
Nr4a2 A T 2: 57,002,035 (GRCm39) H76Q probably benign Het
Nup98 T C 7: 101,784,185 (GRCm39) Q1049R probably damaging Het
Or4k48 A T 2: 111,476,121 (GRCm39) S74T possibly damaging Het
Or5k1b T A 16: 58,580,982 (GRCm39) R186* probably null Het
Or8k33 A T 2: 86,383,853 (GRCm39) F205Y probably damaging Het
Pepd T C 7: 34,720,409 (GRCm39) Y231H probably benign Het
Plagl1 G T 10: 13,003,301 (GRCm39) A190S possibly damaging Het
Plat T A 8: 23,268,269 (GRCm39) I345N probably damaging Het
Pnmt A G 11: 98,278,286 (GRCm39) E120G probably damaging Het
Prkrip1 C A 5: 136,227,797 (GRCm39) probably null Het
Pygm G A 19: 6,443,754 (GRCm39) A572T probably damaging Het
Rbm4b T C 19: 4,807,400 (GRCm39) F39L probably damaging Het
Rpe65 A G 3: 159,328,268 (GRCm39) H388R probably benign Het
Scn4a G T 11: 106,210,914 (GRCm39) A1701E possibly damaging Het
Sdk2 C A 11: 113,748,584 (GRCm39) W616L probably damaging Het
Siglece C T 7: 43,309,297 (GRCm39) R87H probably damaging Het
Sim1 C A 10: 50,785,998 (GRCm39) L284M probably damaging Het
Smok3c G T 5: 138,063,844 (GRCm39) E444* probably null Het
Snx4 T C 16: 33,115,100 (GRCm39) V427A probably benign Het
Srp68 A T 11: 116,151,684 (GRCm39) V304E probably damaging Het
Stag1 A T 9: 100,678,808 (GRCm39) H243L possibly damaging Het
Stx6 T C 1: 155,049,737 (GRCm39) V14A probably damaging Het
Sv2b T A 7: 74,786,169 (GRCm39) Y417F probably benign Het
Tas2r103 A G 6: 133,013,161 (GRCm39) Y302H probably benign Het
Thop1 T C 10: 80,916,028 (GRCm39) S404P probably benign Het
Trp53bp1 G T 2: 121,051,701 (GRCm39) C988* probably null Het
Tsbp1 C T 17: 34,678,951 (GRCm39) P221L probably damaging Het
Ube3c A G 5: 29,836,269 (GRCm39) E630G possibly damaging Het
Usf3 T C 16: 44,037,718 (GRCm39) S733P probably benign Het
Vmn1r195 A G 13: 22,463,189 (GRCm39) T220A probably benign Het
Vmn1r201 A T 13: 22,658,882 (GRCm39) H32L probably benign Het
Wnt2 A G 6: 18,023,239 (GRCm39) C137R probably damaging Het
Ythdc2 T C 18: 44,980,871 (GRCm39) S489P probably damaging Het
Zfp248 A G 6: 118,406,033 (GRCm39) C418R probably damaging Het
Zfp946 T G 17: 22,674,502 (GRCm39) F419V probably damaging Het
Zfp994 C T 17: 22,419,738 (GRCm39) E404K probably damaging Het
Zfpm1 T C 8: 123,061,347 (GRCm39) V304A possibly damaging 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
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
R7063:Serpina3m UTSW 12 104,357,726 (GRCm39) missense probably benign 0.00
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'- GCTAGCAGCTTGGTCAACTAC -3'
(R):5'- TGTAAGCTGGCTTCCACCTG -3'

Sequencing Primer
(F):5'- GACACTCTGAGTGACTGA -3'
(R):5'- TGCATCCTGCCCTGGTCAG -3'
Posted On 2016-04-15